Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3627dup (p.Glu1210fs)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Pathogenic
Apr 2016 by
Evidence-based…
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.3627dup (p.Glu1210fs)
Variation ID: 37534 Accession: VCV000037534.53
- Type and length
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Duplication, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43091903-43091904 (GRCh38) [ NCBI UCSC ] 17: 41243920-41243921 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 1, 2014 Oct 20, 2024 Apr 22, 2016 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.3627dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Glu1210fs frameshift NM_001407571.1:c.3414dup NP_001394500.1:p.Glu1139fs frameshift NM_001407581.1:c.3627dup NP_001394510.1:p.Glu1210fs frameshift NM_001407582.1:c.3627dup NP_001394511.1:p.Glu1210fs frameshift NM_001407583.1:c.3627dup NP_001394512.1:p.Glu1210fs frameshift NM_001407585.1:c.3627dup NP_001394514.1:p.Glu1210fs frameshift NM_001407587.1:c.3624dup NP_001394516.1:p.Glu1209fs frameshift NM_001407590.1:c.3624dup NP_001394519.1:p.Glu1209fs frameshift NM_001407591.1:c.3624dup NP_001394520.1:p.Glu1209fs frameshift NM_001407593.1:c.3627dup NP_001394522.1:p.Glu1210fs frameshift NM_001407594.1:c.3627dup NP_001394523.1:p.Glu1210fs frameshift NM_001407596.1:c.3627dup NP_001394525.1:p.Glu1210fs frameshift NM_001407597.1:c.3627dup NP_001394526.1:p.Glu1210fs frameshift NM_001407598.1:c.3627dup NP_001394527.1:p.Glu1210fs frameshift NM_001407602.1:c.3627dup NP_001394531.1:p.Glu1210fs frameshift NM_001407603.1:c.3627dup NP_001394532.1:p.Glu1210fs frameshift NM_001407605.1:c.3627dup NP_001394534.1:p.Glu1210fs frameshift NM_001407610.1:c.3624dup NP_001394539.1:p.Glu1209fs frameshift NM_001407611.1:c.3624dup NP_001394540.1:p.Glu1209fs frameshift NM_001407612.1:c.3624dup NP_001394541.1:p.Glu1209fs frameshift NM_001407613.1:c.3624dup NP_001394542.1:p.Glu1209fs frameshift NM_001407614.1:c.3624dup NP_001394543.1:p.Glu1209fs frameshift NM_001407615.1:c.3624dup NP_001394544.1:p.Glu1209fs frameshift NM_001407616.1:c.3627dup NP_001394545.1:p.Glu1210fs frameshift NM_001407617.1:c.3627dup NP_001394546.1:p.Glu1210fs frameshift NM_001407618.1:c.3627dup NP_001394547.1:p.Glu1210fs frameshift NM_001407619.1:c.3627dup NP_001394548.1:p.Glu1210fs frameshift NM_001407620.1:c.3627dup NP_001394549.1:p.Glu1210fs frameshift NM_001407621.1:c.3627dup NP_001394550.1:p.Glu1210fs frameshift NM_001407622.1:c.3627dup NP_001394551.1:p.Glu1210fs frameshift NM_001407623.1:c.3627dup NP_001394552.1:p.Glu1210fs frameshift NM_001407624.1:c.3627dup NP_001394553.1:p.Glu1210fs frameshift NM_001407625.1:c.3627dup NP_001394554.1:p.Glu1210fs frameshift NM_001407626.1:c.3627dup NP_001394555.1:p.Glu1210fs frameshift NM_001407627.1:c.3624dup NP_001394556.1:p.Glu1209fs frameshift NM_001407628.1:c.3624dup NP_001394557.1:p.Glu1209fs frameshift NM_001407629.1:c.3624dup NP_001394558.1:p.Glu1209fs frameshift NM_001407630.1:c.3624dup NP_001394559.1:p.Glu1209fs frameshift NM_001407631.1:c.3624dup NP_001394560.1:p.Glu1209fs frameshift NM_001407632.1:c.3624dup NP_001394561.1:p.Glu1209fs frameshift NM_001407633.1:c.3624dup NP_001394562.1:p.Glu1209fs frameshift NM_001407634.1:c.3624dup NP_001394563.1:p.Glu1209fs frameshift NM_001407635.1:c.3624dup NP_001394564.1:p.Glu1209fs frameshift NM_001407636.1:c.3624dup NP_001394565.1:p.Glu1209fs frameshift NM_001407637.1:c.3624dup NP_001394566.1:p.Glu1209fs frameshift NM_001407638.1:c.3624dup NP_001394567.1:p.Glu1209fs frameshift NM_001407639.1:c.3627dup NP_001394568.1:p.Glu1210fs frameshift NM_001407640.1:c.3627dup NP_001394569.1:p.Glu1210fs frameshift NM_001407641.1:c.3627dup NP_001394570.1:p.Glu1210fs frameshift NM_001407642.1:c.3627dup NP_001394571.1:p.Glu1210fs frameshift NM_001407644.1:c.3624dup NP_001394573.1:p.Glu1209fs frameshift NM_001407645.1:c.3624dup NP_001394574.1:p.Glu1209fs frameshift NM_001407646.1:c.3618dup NP_001394575.1:p.Glu1207fs frameshift NM_001407647.1:c.3618dup NP_001394576.1:p.Glu1207fs frameshift NM_001407648.1:c.3504dup NP_001394577.1:p.Glu1169fs frameshift NM_001407649.1:c.3501dup NP_001394578.1:p.Glu1168fs frameshift NM_001407652.1:c.3627dup NP_001394581.1:p.Glu1210fs frameshift NM_001407653.1:c.3549dup NP_001394582.1:p.Glu1184fs frameshift NM_001407654.1:c.3549dup NP_001394583.1:p.Glu1184fs frameshift NM_001407655.1:c.3549dup NP_001394584.1:p.Glu1184fs frameshift NM_001407656.1:c.3549dup NP_001394585.1:p.Glu1184fs frameshift NM_001407657.1:c.3549dup NP_001394586.1:p.Glu1184fs frameshift NM_001407658.1:c.3549dup NP_001394587.1:p.Glu1184fs frameshift NM_001407659.1:c.3546dup NP_001394588.1:p.Glu1183fs frameshift NM_001407660.1:c.3546dup NP_001394589.1:p.Glu1183fs frameshift NM_001407661.1:c.3546dup NP_001394590.1:p.Glu1183fs frameshift NM_001407662.1:c.3546dup NP_001394591.1:p.Glu1183fs frameshift NM_001407663.1:c.3549dup NP_001394592.1:p.Glu1184fs frameshift NM_001407664.1:c.3504dup NP_001394593.1:p.Glu1169fs frameshift NM_001407665.1:c.3504dup NP_001394594.1:p.Glu1169fs frameshift NM_001407666.1:c.3504dup NP_001394595.1:p.Glu1169fs frameshift NM_001407667.1:c.3504dup NP_001394596.1:p.Glu1169fs frameshift NM_001407668.1:c.3504dup NP_001394597.1:p.Glu1169fs frameshift NM_001407669.1:c.3504dup NP_001394598.1:p.Glu1169fs frameshift NM_001407670.1:c.3501dup NP_001394599.1:p.Glu1168fs frameshift NM_001407671.1:c.3501dup NP_001394600.1:p.Glu1168fs frameshift NM_001407672.1:c.3501dup NP_001394601.1:p.Glu1168fs frameshift NM_001407673.1:c.3501dup NP_001394602.1:p.Glu1168fs frameshift NM_001407674.1:c.3504dup NP_001394603.1:p.Glu1169fs frameshift NM_001407675.1:c.3504dup NP_001394604.1:p.Glu1169fs frameshift NM_001407676.1:c.3504dup NP_001394605.1:p.Glu1169fs frameshift NM_001407677.1:c.3504dup NP_001394606.1:p.Glu1169fs frameshift NM_001407678.1:c.3504dup NP_001394607.1:p.Glu1169fs frameshift NM_001407679.1:c.3504dup NP_001394608.1:p.Glu1169fs frameshift NM_001407680.1:c.3504dup NP_001394609.1:p.Glu1169fs frameshift NM_001407681.1:c.3504dup NP_001394610.1:p.Glu1169fs frameshift NM_001407682.1:c.3504dup NP_001394611.1:p.Glu1169fs frameshift NM_001407683.1:c.3504dup NP_001394612.1:p.Glu1169fs frameshift NM_001407684.1:c.3627dup NP_001394613.1:p.Glu1210fs frameshift NM_001407685.1:c.3501dup NP_001394614.1:p.Glu1168fs frameshift NM_001407686.1:c.3501dup NP_001394615.1:p.Glu1168fs frameshift NM_001407687.1:c.3501dup NP_001394616.1:p.Glu1168fs frameshift NM_001407688.1:c.3501dup NP_001394617.1:p.Glu1168fs frameshift NM_001407689.1:c.3501dup NP_001394618.1:p.Glu1168fs frameshift NM_001407690.1:c.3501dup NP_001394619.1:p.Glu1168fs frameshift NM_001407691.1:c.3501dup NP_001394620.1:p.Glu1168fs frameshift NM_001407692.1:c.3486dup NP_001394621.1:p.Glu1163fs frameshift NM_001407694.1:c.3486dup NP_001394623.1:p.Glu1163fs frameshift NM_001407695.1:c.3486dup NP_001394624.1:p.Glu1163fs frameshift NM_001407696.1:c.3486dup NP_001394625.1:p.Glu1163fs frameshift NM_001407697.1:c.3486dup NP_001394626.1:p.Glu1163fs frameshift NM_001407698.1:c.3486dup NP_001394627.1:p.Glu1163fs frameshift NM_001407724.1:c.3486dup NP_001394653.1:p.Glu1163fs frameshift NM_001407725.1:c.3486dup NP_001394654.1:p.Glu1163fs frameshift NM_001407726.1:c.3486dup NP_001394655.1:p.Glu1163fs frameshift NM_001407727.1:c.3486dup NP_001394656.1:p.Glu1163fs frameshift NM_001407728.1:c.3486dup NP_001394657.1:p.Glu1163fs frameshift NM_001407729.1:c.3486dup NP_001394658.1:p.Glu1163fs frameshift NM_001407730.1:c.3486dup NP_001394659.1:p.Glu1163fs frameshift NM_001407731.1:c.3486dup NP_001394660.1:p.Glu1163fs frameshift NM_001407732.1:c.3486dup NP_001394661.1:p.Glu1163fs frameshift NM_001407733.1:c.3486dup NP_001394662.1:p.Glu1163fs frameshift NM_001407734.1:c.3486dup NP_001394663.1:p.Glu1163fs frameshift NM_001407735.1:c.3486dup NP_001394664.1:p.Glu1163fs frameshift NM_001407736.1:c.3486dup NP_001394665.1:p.Glu1163fs frameshift NM_001407737.1:c.3486dup NP_001394666.1:p.Glu1163fs frameshift NM_001407738.1:c.3486dup NP_001394667.1:p.Glu1163fs frameshift NM_001407739.1:c.3486dup NP_001394668.1:p.Glu1163fs frameshift NM_001407740.1:c.3483dup NP_001394669.1:p.Glu1162fs frameshift NM_001407741.1:c.3483dup NP_001394670.1:p.Glu1162fs frameshift NM_001407742.1:c.3483dup NP_001394671.1:p.Glu1162fs frameshift NM_001407743.1:c.3483dup NP_001394672.1:p.Glu1162fs frameshift NM_001407744.1:c.3483dup NP_001394673.1:p.Glu1162fs frameshift NM_001407745.1:c.3483dup NP_001394674.1:p.Glu1162fs frameshift NM_001407746.1:c.3483dup NP_001394675.1:p.Glu1162fs frameshift NM_001407747.1:c.3483dup NP_001394676.1:p.Glu1162fs frameshift NM_001407748.1:c.3483dup NP_001394677.1:p.Glu1162fs frameshift NM_001407749.1:c.3483dup NP_001394678.1:p.Glu1162fs frameshift NM_001407750.1:c.3486dup NP_001394679.1:p.Glu1163fs frameshift NM_001407751.1:c.3486dup NP_001394680.1:p.Glu1163fs frameshift NM_001407752.1:c.3486dup NP_001394681.1:p.Glu1163fs frameshift NM_001407838.1:c.3483dup NP_001394767.1:p.Glu1162fs frameshift NM_001407839.1:c.3483dup NP_001394768.1:p.Glu1162fs frameshift NM_001407841.1:c.3483dup NP_001394770.1:p.Glu1162fs frameshift NM_001407842.1:c.3483dup NP_001394771.1:p.Glu1162fs frameshift NM_001407843.1:c.3483dup NP_001394772.1:p.Glu1162fs frameshift NM_001407844.1:c.3483dup NP_001394773.1:p.Glu1162fs frameshift NM_001407845.1:c.3483dup NP_001394774.1:p.Glu1162fs frameshift NM_001407846.1:c.3483dup NP_001394775.1:p.Glu1162fs frameshift NM_001407847.1:c.3483dup NP_001394776.1:p.Glu1162fs frameshift NM_001407848.1:c.3483dup NP_001394777.1:p.Glu1162fs frameshift NM_001407849.1:c.3483dup NP_001394778.1:p.Glu1162fs frameshift NM_001407850.1:c.3486dup NP_001394779.1:p.Glu1163fs frameshift NM_001407851.1:c.3486dup NP_001394780.1:p.Glu1163fs frameshift NM_001407852.1:c.3486dup NP_001394781.1:p.Glu1163fs frameshift NM_001407853.1:c.3414dup NP_001394782.1:p.Glu1139fs frameshift NM_001407854.1:c.3627dup NP_001394783.1:p.Glu1210fs frameshift NM_001407858.1:c.3627dup NP_001394787.1:p.Glu1210fs frameshift NM_001407859.1:c.3627dup NP_001394788.1:p.Glu1210fs frameshift NM_001407860.1:c.3624dup NP_001394789.1:p.Glu1209fs frameshift NM_001407861.1:c.3624dup NP_001394790.1:p.Glu1209fs frameshift NM_001407862.1:c.3426dup NP_001394791.1:p.Glu1143fs frameshift NM_001407863.1:c.3504dup NP_001394792.1:p.Glu1169fs frameshift NM_001407874.1:c.3423dup NP_001394803.1:p.Glu1142fs frameshift NM_001407875.1:c.3423dup NP_001394804.1:p.Glu1142fs frameshift NM_001407879.1:c.3417dup NP_001394808.1:p.Glu1140fs frameshift NM_001407881.1:c.3417dup NP_001394810.1:p.Glu1140fs frameshift NM_001407882.1:c.3417dup NP_001394811.1:p.Glu1140fs frameshift NM_001407884.1:c.3417dup NP_001394813.1:p.Glu1140fs frameshift NM_001407885.1:c.3417dup NP_001394814.1:p.Glu1140fs frameshift NM_001407886.1:c.3417dup NP_001394815.1:p.Glu1140fs frameshift NM_001407887.1:c.3417dup NP_001394816.1:p.Glu1140fs frameshift NM_001407889.1:c.3417dup NP_001394818.1:p.Glu1140fs frameshift NM_001407894.1:c.3414dup NP_001394823.1:p.Glu1139fs frameshift NM_001407895.1:c.3414dup NP_001394824.1:p.Glu1139fs frameshift NM_001407896.1:c.3414dup NP_001394825.1:p.Glu1139fs frameshift NM_001407897.1:c.3414dup NP_001394826.1:p.Glu1139fs frameshift NM_001407898.1:c.3414dup NP_001394827.1:p.Glu1139fs frameshift NM_001407899.1:c.3414dup NP_001394828.1:p.Glu1139fs frameshift NM_001407900.1:c.3417dup NP_001394829.1:p.Glu1140fs frameshift NM_001407902.1:c.3417dup NP_001394831.1:p.Glu1140fs frameshift NM_001407904.1:c.3417dup NP_001394833.1:p.Glu1140fs frameshift NM_001407906.1:c.3417dup NP_001394835.1:p.Glu1140fs frameshift NM_001407907.1:c.3417dup NP_001394836.1:p.Glu1140fs frameshift NM_001407908.1:c.3417dup NP_001394837.1:p.Glu1140fs frameshift NM_001407909.1:c.3417dup NP_001394838.1:p.Glu1140fs frameshift NM_001407910.1:c.3417dup NP_001394839.1:p.Glu1140fs frameshift NM_001407915.1:c.3414dup NP_001394844.1:p.Glu1139fs frameshift NM_001407916.1:c.3414dup NP_001394845.1:p.Glu1139fs frameshift NM_001407917.1:c.3414dup NP_001394846.1:p.Glu1139fs frameshift NM_001407918.1:c.3414dup NP_001394847.1:p.Glu1139fs frameshift NM_001407919.1:c.3504dup NP_001394848.1:p.Glu1169fs frameshift NM_001407920.1:c.3363dup NP_001394849.1:p.Glu1122fs frameshift NM_001407921.1:c.3363dup NP_001394850.1:p.Glu1122fs frameshift NM_001407922.1:c.3363dup NP_001394851.1:p.Glu1122fs frameshift NM_001407923.1:c.3363dup NP_001394852.1:p.Glu1122fs frameshift NM_001407924.1:c.3363dup NP_001394853.1:p.Glu1122fs frameshift NM_001407925.1:c.3363dup NP_001394854.1:p.Glu1122fs frameshift NM_001407926.1:c.3363dup NP_001394855.1:p.Glu1122fs frameshift NM_001407927.1:c.3363dup NP_001394856.1:p.Glu1122fs frameshift NM_001407928.1:c.3363dup NP_001394857.1:p.Glu1122fs frameshift NM_001407929.1:c.3363dup NP_001394858.1:p.Glu1122fs frameshift NM_001407930.1:c.3360dup NP_001394859.1:p.Glu1121fs frameshift NM_001407931.1:c.3360dup NP_001394860.1:p.Glu1121fs frameshift NM_001407932.1:c.3360dup NP_001394861.1:p.Glu1121fs frameshift NM_001407933.1:c.3363dup NP_001394862.1:p.Glu1122fs frameshift NM_001407934.1:c.3360dup NP_001394863.1:p.Glu1121fs frameshift NM_001407935.1:c.3363dup NP_001394864.1:p.Glu1122fs frameshift NM_001407936.1:c.3360dup NP_001394865.1:p.Glu1121fs frameshift NM_001407937.1:c.3504dup NP_001394866.1:p.Glu1169fs frameshift NM_001407938.1:c.3504dup NP_001394867.1:p.Glu1169fs frameshift NM_001407939.1:c.3504dup NP_001394868.1:p.Glu1169fs frameshift NM_001407940.1:c.3501dup NP_001394869.1:p.Glu1168fs frameshift NM_001407941.1:c.3501dup NP_001394870.1:p.Glu1168fs frameshift NM_001407942.1:c.3486dup NP_001394871.1:p.Glu1163fs frameshift NM_001407943.1:c.3483dup NP_001394872.1:p.Glu1162fs frameshift NM_001407944.1:c.3486dup NP_001394873.1:p.Glu1163fs frameshift NM_001407945.1:c.3486dup NP_001394874.1:p.Glu1163fs frameshift NM_001407946.1:c.3294dup NP_001394875.1:p.Glu1099fs frameshift NM_001407947.1:c.3294dup NP_001394876.1:p.Glu1099fs frameshift NM_001407948.1:c.3294dup NP_001394877.1:p.Glu1099fs frameshift NM_001407949.1:c.3294dup NP_001394878.1:p.Glu1099fs frameshift NM_001407950.1:c.3294dup NP_001394879.1:p.Glu1099fs frameshift NM_001407951.1:c.3294dup NP_001394880.1:p.Glu1099fs frameshift NM_001407952.1:c.3294dup NP_001394881.1:p.Glu1099fs frameshift NM_001407953.1:c.3294dup NP_001394882.1:p.Glu1099fs frameshift NM_001407954.1:c.3291dup NP_001394883.1:p.Glu1098fs frameshift NM_001407955.1:c.3291dup NP_001394884.1:p.Glu1098fs frameshift NM_001407956.1:c.3291dup NP_001394885.1:p.Glu1098fs frameshift NM_001407957.1:c.3294dup NP_001394886.1:p.Glu1099fs frameshift NM_001407958.1:c.3291dup NP_001394887.1:p.Glu1098fs frameshift NM_001407959.1:c.3246dup NP_001394888.1:p.Glu1083fs frameshift NM_001407960.1:c.3246dup NP_001394889.1:p.Glu1083fs frameshift NM_001407962.1:c.3243dup NP_001394891.1:p.Glu1082fs frameshift NM_001407963.1:c.3246dup NP_001394892.1:p.Glu1083fs frameshift NM_001407964.1:c.3483dup NP_001394893.1:p.Glu1162fs frameshift NM_001407965.1:c.3123dup NP_001394894.1:p.Glu1042fs frameshift NM_001407966.1:c.2739dup NP_001394895.1:p.Glu914fs frameshift NM_001407967.1:c.2739dup NP_001394896.1:p.Glu914fs frameshift NM_001407968.1:c.1023dup NP_001394897.1:p.Glu342fs frameshift NM_001407969.1:c.1023dup NP_001394898.1:p.Glu342fs frameshift NM_001407970.1:c.788-872dup intron variant NM_001407971.1:c.788-872dup intron variant NM_001407972.1:c.785-872dup intron variant NM_001407973.1:c.788-872dup intron variant NM_001407974.1:c.788-872dup intron variant NM_001407975.1:c.788-872dup intron variant NM_001407976.1:c.788-872dup intron variant NM_001407977.1:c.788-872dup intron variant NM_001407978.1:c.788-872dup intron variant NM_001407979.1:c.788-872dup intron variant NM_001407980.1:c.788-872dup intron variant NM_001407981.1:c.788-872dup intron variant NM_001407982.1:c.788-872dup intron variant NM_001407983.1:c.788-872dup intron variant NM_001407984.1:c.785-872dup intron variant NM_001407985.1:c.785-872dup intron variant NM_001407986.1:c.785-872dup intron variant NM_001407990.1:c.788-872dup intron variant NM_001407991.1:c.785-872dup intron variant NM_001407992.1:c.785-872dup intron variant NM_001407993.1:c.788-872dup intron variant NM_001408392.1:c.785-872dup intron variant NM_001408396.1:c.785-872dup intron variant NM_001408397.1:c.785-872dup intron variant NM_001408398.1:c.785-872dup intron variant NM_001408399.1:c.785-872dup intron variant NM_001408400.1:c.785-872dup intron variant NM_001408401.1:c.785-872dup intron variant NM_001408402.1:c.785-872dup intron variant NM_001408403.1:c.788-872dup intron variant NM_001408404.1:c.788-872dup intron variant NM_001408406.1:c.791-881dup intron variant NM_001408407.1:c.785-872dup intron variant NM_001408408.1:c.779-872dup intron variant NM_001408409.1:c.710-872dup intron variant NM_001408410.1:c.647-872dup intron variant NM_001408411.1:c.710-872dup intron variant NM_001408412.1:c.710-872dup intron variant NM_001408413.1:c.707-872dup intron variant NM_001408414.1:c.710-872dup intron variant NM_001408415.1:c.710-872dup intron variant NM_001408416.1:c.707-872dup intron variant NM_001408418.1:c.671-872dup intron variant NM_001408419.1:c.671-872dup intron variant NM_001408420.1:c.671-872dup intron variant NM_001408421.1:c.668-872dup intron variant NM_001408422.1:c.671-872dup intron variant NM_001408423.1:c.671-872dup intron variant NM_001408424.1:c.668-872dup intron variant NM_001408425.1:c.665-872dup intron variant NM_001408426.1:c.665-872dup intron variant NM_001408427.1:c.665-872dup intron variant NM_001408428.1:c.665-872dup intron variant NM_001408429.1:c.665-872dup intron variant NM_001408430.1:c.665-872dup intron variant NM_001408431.1:c.668-872dup intron variant NM_001408432.1:c.662-872dup intron variant NM_001408433.1:c.662-872dup intron variant NM_001408434.1:c.662-872dup intron variant NM_001408435.1:c.662-872dup intron variant NM_001408436.1:c.665-872dup intron variant NM_001408437.1:c.665-872dup intron variant NM_001408438.1:c.665-872dup intron variant NM_001408439.1:c.665-872dup intron variant NM_001408440.1:c.665-872dup intron variant NM_001408441.1:c.665-872dup intron variant NM_001408442.1:c.665-872dup intron variant NM_001408443.1:c.665-872dup intron variant NM_001408444.1:c.665-872dup intron variant NM_001408445.1:c.662-872dup intron variant NM_001408446.1:c.662-872dup intron variant NM_001408447.1:c.662-872dup intron variant NM_001408448.1:c.662-872dup intron variant NM_001408450.1:c.662-872dup intron variant NM_001408451.1:c.653-872dup intron variant NM_001408452.1:c.647-872dup intron variant NM_001408453.1:c.647-872dup intron variant NM_001408454.1:c.647-872dup intron variant NM_001408455.1:c.647-872dup intron variant NM_001408456.1:c.647-872dup intron variant NM_001408457.1:c.647-872dup intron variant NM_001408458.1:c.647-872dup intron variant NM_001408459.1:c.647-872dup intron variant NM_001408460.1:c.647-872dup intron variant NM_001408461.1:c.647-872dup intron variant NM_001408462.1:c.644-872dup intron variant NM_001408463.1:c.644-872dup intron variant NM_001408464.1:c.644-872dup intron variant NM_001408465.1:c.644-872dup intron variant NM_001408466.1:c.647-872dup intron variant NM_001408467.1:c.647-872dup intron variant NM_001408468.1:c.644-872dup intron variant NM_001408469.1:c.647-872dup intron variant NM_001408470.1:c.644-872dup intron variant NM_001408472.1:c.788-872dup intron variant NM_001408473.1:c.785-872dup intron variant NM_001408474.1:c.587-872dup intron variant NM_001408475.1:c.584-872dup intron variant NM_001408476.1:c.587-872dup intron variant NM_001408478.1:c.578-872dup intron variant NM_001408479.1:c.578-872dup intron variant NM_001408480.1:c.578-872dup intron variant NM_001408481.1:c.578-872dup intron variant NM_001408482.1:c.578-872dup intron variant NM_001408483.1:c.578-872dup intron variant NM_001408484.1:c.578-872dup intron variant NM_001408485.1:c.578-872dup intron variant NM_001408489.1:c.578-872dup intron variant NM_001408490.1:c.575-872dup intron variant NM_001408491.1:c.575-872dup intron variant NM_001408492.1:c.578-872dup intron variant NM_001408493.1:c.575-872dup intron variant NM_001408494.1:c.548-872dup intron variant NM_001408495.1:c.545-872dup intron variant NM_001408496.1:c.524-872dup intron variant NM_001408497.1:c.524-872dup intron variant NM_001408498.1:c.524-872dup intron variant NM_001408499.1:c.524-872dup intron variant NM_001408500.1:c.524-872dup intron variant NM_001408501.1:c.524-872dup intron variant NM_001408502.1:c.455-872dup intron variant NM_001408503.1:c.521-872dup intron variant NM_001408504.1:c.521-872dup intron variant NM_001408505.1:c.521-872dup intron variant NM_001408506.1:c.461-872dup intron variant NM_001408507.1:c.461-872dup intron variant NM_001408508.1:c.452-872dup intron variant NM_001408509.1:c.452-872dup intron variant NM_001408510.1:c.407-872dup intron variant NM_001408511.1:c.404-872dup intron variant NM_001408512.1:c.284-872dup intron variant NM_001408513.1:c.578-872dup intron variant NM_001408514.1:c.578-872dup intron variant NM_007294.3:c.3627dupA frameshift NM_007294.3:c.3627insA frameshift NM_007297.4:c.3486dup NP_009228.2:p.Glu1163fs frameshift NM_007298.4:c.788-872dup intron variant NM_007299.4:c.788-872dup intron variant NM_007300.4:c.3627dup NP_009231.2:p.Glu1210fs frameshift NR_027676.1:n.3763dup NC_000017.11:g.43091904dup NC_000017.10:g.41243921dup NG_005905.2:g.126080dup NG_087068.1:g.886dup LRG_292:g.126080dup LRG_292t1:c.3627dup LRG_292p1:p.Glu1210Argfs U14680.1:n.3746_3747insA - Protein change
- E1163fs, E1210fs, E1099fs, E1139fs, E1209fs, E1082fs, E1098fs, E1184fs, E1207fs, E1083fs, E1140fs, E1143fs, E1162fs, E1168fs, E342fs, E914fs, E1042fs, E1121fs, E1122fs, E1142fs, E1169fs, E1183fs
- Other names
-
3746insA
- Canonical SPDI
- NC_000017.11:43091903:T:TT
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13050 | 14856 | |
| LOC126862571 | - | - | - | GRCh38 | - | 1651 |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Pathogenic (9) |
reviewed by expert panel
|
Apr 22, 2016 | RCV000031115.22 | |
| Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
|
Jan 17, 2024 | RCV000048263.26 | |
| Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
May 10, 2023 | RCV000130022.20 | |
| Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
|
Jul 1, 2023 | RCV000301326.33 | |
| Pathogenic (1) |
no assertion criteria provided
|
- | RCV001358494.10 | |
| Pathogenic (1) |
no assertion criteria provided
|
May 21, 2018 | RCV000677818.9 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
|---|---|---|---|---|---|
|
Pathogenic
(Apr 22, 2016)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000282312.1
First in ClinVar: Jun 24, 2016 Last updated: Jun 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
|
Pathogenic
(Nov 28, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000600337.2
First in ClinVar: Sep 28, 2017 Last updated: Jan 03, 2022 |
|
|
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Pathogenic
(May 12, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000329127.8
First in ClinVar: Dec 06, 2016 Last updated: Jun 10, 2023 |
Comment:
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of … (more)
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Observed in association with breast and/or ovarian cancer and is a recurrent variant in Korean populations (Kim et al., 2006; Schneegans et al., 2012; Kim et al., 2012; Solano et al., 2012; Hirasawa et al., 2017; Lerner-Ellis et al., 2021); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Not observed at significant frequency in large population cohorts (gnomAD); Also known as 3746dupA; This variant is associated with the following publications: (PMID: 16949048, 24916970, 28012317, 24728189, 22217648, 22382806, 20950396, 22762150, 17100994, 29348823, 25863477, 11802209, 29907814, 30257646, 29922827, 28888541, 23633455, 22160602, 27836010, 28111427, 28205045, 16084575, 16455195, 23961350, 27488874, 22798144, 30720863, 30078507, 30720243, 30350268, 33087929, 30309222, 31825140, 32455662, 31090900, 31447099, 34657373, 30702160, 34645131, 32885271) (less)
|
|
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Pathogenic
(Mar 16, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004215187.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
|
|
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Pathogenic
(Jul 01, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV001247354.26
First in ClinVar: May 12, 2020 Last updated: Oct 20, 2024 |
Comment:
BRCA1: PVS1, PM2, PS4:Moderate, PP1
Number of individuals with the variant: 2
|
|
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Pathogenic
(May 25, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
Accession: SCV000839900.1
First in ClinVar: Nov 05, 2016 Last updated: Nov 05, 2016 |
Comment:
The c.3627dup (p.Glu1210Argfs*9) variant in the BRCA1 gene has been detected multiple patients with breast cancer and/or ovarian cancer [PMID 16949048, 23633455, 22160602]. This 1 … (more)
The c.3627dup (p.Glu1210Argfs*9) variant in the BRCA1 gene has been detected multiple patients with breast cancer and/or ovarian cancer [PMID 16949048, 23633455, 22160602]. This 1 bp duplication in exon 10 results in a frameshift and the creation of a premature stop codon. This variant is thus predicted to result in a loss of function of the protein. This variant has not been detected in the ExAC database. This variant thus classified as pathogenic. (less)
|
|
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Pathogenic
(Sep 03, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast and ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000699047.2
First in ClinVar: Dec 26, 2017 Last updated: Oct 10, 2020 |
Comment:
Variant summary: BRCA1 c.3627dupA (p.Glu1210ArgfsX9) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Variant summary: BRCA1 c.3627dupA (p.Glu1210ArgfsX9) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 7.9e-06 in 251602 control chromosomes. c.3627dupA has been reported in the literature in multiple individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (Kim_2006, Lecarpentier_2012, Solano_2013, Peixoto_2014). These data indicate that the variant is very likely to be associated with disease. Ten clinical diagnostic laboratories and one expert panel (ENIGMA) have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
|
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Pathogenic
(Oct 02, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000325707.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
|
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Pathogenic
(Jan 23, 2015)
|
criteria provided, single submitter
Method: literature only
|
Breast-ovarian cancer, familial 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000221074.2
First in ClinVar: Mar 29, 2015 Last updated: Dec 24, 2022 |
|
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Pathogenic
(Apr 20, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Human Genetics Bochum, Ruhr University Bochum
Accession: SCV004042785.1
First in ClinVar: Oct 21, 2023 Last updated: Oct 21, 2023 |
Comment:
ACMG criteria used to clasify this variant:PVS1, PS4_SUP, PM2_SUP
|
|
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Pathogenic
(May 10, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000683117.4
First in ClinVar: Feb 19, 2018 Last updated: Feb 14, 2024 |
Comment:
This variant inserts 1 nucleotide in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to … (more)
This variant inserts 1 nucleotide in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been observed in multiple individuals and families affected with breast and ovarian cancer (PMID: 16084575, 16949048, 16455195 , 20033483, 22160602, 22762150, 22798144, 23961350, 23633455, 24728189, 24916970, 27167707, 29446198, 29907814, 30257646, 32019277). This variant has been identified in 2/251268 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
|
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Pathogenic
(Jan 17, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000076276.14
First in ClinVar: Jul 03, 2013 Last updated: Feb 20, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Glu1210Argfs*9) in the BRCA1 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Glu1210Argfs*9) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is present in population databases (rs80357729, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 16949048, 22160602, 22382806, 22798144, 23633455). This variant is also known as 3627insA and 3746insA. ClinVar contains an entry for this variant (Variation ID: 37534). For these reasons, this variant has been classified as Pathogenic. (less)
|
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Pathogenic
(Jul 19, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
All of Us Research Program, National Institutes of Health
Accession: SCV004817776.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
|
Comment:
This variant inserts 1 nucleotide in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to … (more)
This variant inserts 1 nucleotide in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional studies have not been reported for this variant. This variant has been observed in multiple individuals and families affected with breast and ovarian cancer (PMID: 16084575, 16949048, 16455195 , 20033483, 22160602, 22762150, 22798144, 23961350, 23633455, 24728189, 24916970, 27167707, 29446198, 29907814, 30257646, 32019277). This variant has been identified in 2/251268 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
Number of individuals with the variant: 1
|
|
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Pathogenic
(Oct 14, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV004848280.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024 |
Comment:
The p.Glu1210ArgfsX9 variant in BRCA1 has been reported in >10 individuals with breast and/or ovarian cancer (HBOC; Kim 2006, George 2013, Hirasawa 2017, Li 2018, … (more)
The p.Glu1210ArgfsX9 variant in BRCA1 has been reported in >10 individuals with breast and/or ovarian cancer (HBOC; Kim 2006, George 2013, Hirasawa 2017, Li 2018, BIC database). It has also been identified in 2/18370 East Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org); however, this frequency is low enough to be consistent with the frequency of hereditary breast and ovarian cancer in the general population. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 1210 and leads to a premature termination codon 9 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function of the BRCA1 gene is an established disease mechanism in autosomal dominant hereditary breast and ovarian cancer syndrome. Additionally, this variant was classified as Pathogenic on Apr 22, 2016 by the ClinGen-approved ENIGMA expert panel (Variation ID: 37534). In summary, this variant meets criteria to be classified as pathogenic for autosomal dominant HBOC. ACMG/AMP Criteria applied: PVS1, PM2, PS4_M. (less)
|
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Pathogenic
(Apr 22, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000184848.8
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
The c.3627dupA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of A at nucleotide position 3627, causing a … (more)
The c.3627dupA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of A at nucleotide position 3627, causing a translational frameshift with a predicted alternate stop codon (p.E1210Rfs*9). This mutation has been reported in many Korean breast and ovarian cancer families and may be associated with a Korean founder effect (Kim BY et al. Biochem. Biophys. Res. Commun. 2006 Oct;349:604-10; Schneegans SM et al. Fam. Cancer. 2012 Jun;11:181-8; George J et al. Clin. Cancer Res. 2013 Jul;19:3474-84; Kim H et al. Breast Cancer Res. Treat. 2012 Aug;134:1315-26; Jang JH et al. J. Hum. Genet. 2012 Mar;57:212-5; Son BH et al. Breast Cancer Res. Treat. 2012 Jun;133:1143-52; Song H et al. Hum. Mol. Genet. 2014 Sep;23:4703-9; Rebbeck TR et al. Breast Cancer Res. 2016 11;18:112; Park JS et al. Cancer Res. Treat. 2017 Oct;49:1012-1021; Han SH et al. Clin. Genet. 2006 Dec;70:496-501; Ahn SH et al. Cancer Lett. 2007 Jan;245:90-5; Seong MW et al. Clin. Genet. 2009 Aug;76:152-60). This mutation was also detected in 1/230 unselected Japanese women with ovarian cancer (Hirasawa A et al. Oncotarget. 2017 Nov;8:112258-112267) and in a cohort of women diagnosed with triple negative breast cancer (Hoyer J et al. BMC Cancer. 2018 Sep;18:926). This alteration was identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum. Mutat. 2018 05;39:593-620). Of note, this alteration is also designated as 3746insA in published literature. In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
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Pathogenic
(May 29, 2002)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
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Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144817.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 4
Observation 2:
Number of individuals with the variant: 1
Ethnicity/Population group: Asian
Observation 3:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: Germany
Observation 4:
Number of individuals with the variant: 1
Ethnicity/Population group: Latin American, Caribbean
Observation 5:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European
Observation 6:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European
Geographic origin: Germany
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Pathogenic
(Feb 14, 2012)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
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Sharing Clinical Reports Project (SCRP)
Accession: SCV000053713.5
First in ClinVar: Apr 04, 2013 Last updated: Jun 24, 2016 |
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Pathogenic
(Jan 31, 2014)
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no assertion criteria provided
Method: research
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Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
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Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587322.1 First in ClinVar: Aug 05, 2017 Last updated: Aug 05, 2017 |
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Pathogenic
(May 21, 2018)
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no assertion criteria provided
Method: clinical testing
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Ovarian Serous Surface Papillary Adenocarcinoma
Affected status: yes
Allele origin:
germline
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3DMed Clinical Laboratory Inc
Accession: SCV000803978.1
First in ClinVar: Aug 27, 2018 Last updated: Aug 27, 2018 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Malignant tumor of breast
Affected status: yes
Allele origin:
unknown
|
Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001554243.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
The BRCA1 p.Glu1210ArgfsX9 variant was identified in 20 of 10984 proband chromosomes (frequency: 0.002) from Korean and American individuals with breast and ovarian cancer and … (more)
The BRCA1 p.Glu1210ArgfsX9 variant was identified in 20 of 10984 proband chromosomes (frequency: 0.002) from Korean and American individuals with breast and ovarian cancer and was not identified in 3738 control chromosomes from healthy individuals (Han 2006 17100994, Jang 2012 22217648, Park 2017 28205045 , Song 2014 24728189, Rebbeck 2016 27836010, Kim 2006 16949048, Park 2017 28111427). The variant was identified in 1 breast cancer case with a pathogenic BRCA2 variant, c.6724_6725delGA (Rebbeck 2016 27836010). The variant was also identified in dbSNP (ID: rs80357729) as “With Pathogenic allele”, in ClinVar (classified pathogenic, reviewed by an expert panel in 2016; submitters: ENIGMA, CIMBA, GeneDx, Invitae, Ambry Genetics, Counsyl, Quest Diagnostics Nichols Institute San Juan Capistrano, Color Genomics, Laboratory Corporation of America, SCRP, BIC), Clinvitae (6x), LOVD 3.0, UMD-LSDB (28x as causal), BIC Database (9x as class 5 pathogenic), ARUP Laboratories (as definitely pathogenic), but was not identified in Cosmic, MutDB, Zhejiang University Database, the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project, the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The c.3627dupA variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 1210 and leads to a premature stop codon 9 codons downstream. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the BRCA1 gene are an established mechanism of disease in hereditary breast and ovarian cancer and is the type of variant expected to cause the disorder. In summary, based on the above information this variant meets our laboratory’s criteria to be classified as pathogenic. (less)
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Comment:
Comment:
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Observed in association with breast and/or ovarian cancer and is a recurrent variant in Korean populations (Kim et al., 2006; Schneegans et al., 2012; Kim et al., 2012; Solano et al., 2012; Hirasawa et al., 2017; Lerner-Ellis et al., 2021); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Not observed at significant frequency in large population cohorts (gnomAD); Also known as 3746dupA; This variant is associated with the following publications: (PMID: 16949048, 24916970, 28012317, 24728189, 22217648, 22382806, 20950396, 22762150, 17100994, 29348823, 25863477, 11802209, 29907814, 30257646, 29922827, 28888541, 23633455, 22160602, 27836010, 28111427, 28205045, 16084575, 16455195, 23961350, 27488874, 22798144, 30720863, 30078507, 30720243, 30350268, 33087929, 30309222, 31825140, 32455662, 31090900, 31447099, 34657373, 30702160, 34645131, 32885271)
Comment:
BRCA1: PVS1, PM2, PS4:Moderate, PP1
Comment:
The c.3627dup (p.Glu1210Argfs*9) variant in the BRCA1 gene has been detected multiple patients with breast cancer and/or ovarian cancer [PMID 16949048, 23633455, 22160602]. This 1 bp duplication in exon 10 results in a frameshift and the creation of a premature stop codon. This variant is thus predicted to result in a loss of function of the protein. This variant has not been detected in the ExAC database. This variant thus classified as pathogenic.
Comment:
Variant summary: BRCA1 c.3627dupA (p.Glu1210ArgfsX9) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 7.9e-06 in 251602 control chromosomes. c.3627dupA has been reported in the literature in multiple individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (Kim_2006, Lecarpentier_2012, Solano_2013, Peixoto_2014). These data indicate that the variant is very likely to be associated with disease. Ten clinical diagnostic laboratories and one expert panel (ENIGMA) have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Comment:
ACMG criteria used to clasify this variant:PVS1, PS4_SUP, PM2_SUP
Comment:
This variant inserts 1 nucleotide in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been observed in multiple individuals and families affected with breast and ovarian cancer (PMID: 16084575, 16949048, 16455195 , 20033483, 22160602, 22762150, 22798144, 23961350, 23633455, 24728189, 24916970, 27167707, 29446198, 29907814, 30257646, 32019277). This variant has been identified in 2/251268 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Comment:
This sequence change creates a premature translational stop signal (p.Glu1210Argfs*9) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is present in population databases (rs80357729, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 16949048, 22160602, 22382806, 22798144, 23633455). This variant is also known as 3627insA and 3746insA. ClinVar contains an entry for this variant (Variation ID: 37534). For these reasons, this variant has been classified as Pathogenic.
Comment:
This variant inserts 1 nucleotide in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional studies have not been reported for this variant. This variant has been observed in multiple individuals and families affected with breast and ovarian cancer (PMID: 16084575, 16949048, 16455195 , 20033483, 22160602, 22762150, 22798144, 23961350, 23633455, 24728189, 24916970, 27167707, 29446198, 29907814, 30257646, 32019277). This variant has been identified in 2/251268 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Comment:
The p.Glu1210ArgfsX9 variant in BRCA1 has been reported in >10 individuals with breast and/or ovarian cancer (HBOC; Kim 2006, George 2013, Hirasawa 2017, Li 2018, BIC database). It has also been identified in 2/18370 East Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org); however, this frequency is low enough to be consistent with the frequency of hereditary breast and ovarian cancer in the general population. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 1210 and leads to a premature termination codon 9 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function of the BRCA1 gene is an established disease mechanism in autosomal dominant hereditary breast and ovarian cancer syndrome. Additionally, this variant was classified as Pathogenic on Apr 22, 2016 by the ClinGen-approved ENIGMA expert panel (Variation ID: 37534). In summary, this variant meets criteria to be classified as pathogenic for autosomal dominant HBOC. ACMG/AMP Criteria applied: PVS1, PM2, PS4_M.
Comment:
The c.3627dupA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of A at nucleotide position 3627, causing a translational frameshift with a predicted alternate stop codon (p.E1210Rfs*9). This mutation has been reported in many Korean breast and ovarian cancer families and may be associated with a Korean founder effect (Kim BY et al. Biochem. Biophys. Res. Commun. 2006 Oct;349:604-10; Schneegans SM et al. Fam. Cancer. 2012 Jun;11:181-8; George J et al. Clin. Cancer Res. 2013 Jul;19:3474-84; Kim H et al. Breast Cancer Res. Treat. 2012 Aug;134:1315-26; Jang JH et al. J. Hum. Genet. 2012 Mar;57:212-5; Son BH et al. Breast Cancer Res. Treat. 2012 Jun;133:1143-52; Song H et al. Hum. Mol. Genet. 2014 Sep;23:4703-9; Rebbeck TR et al. Breast Cancer Res. 2016 11;18:112; Park JS et al. Cancer Res. Treat. 2017 Oct;49:1012-1021; Han SH et al. Clin. Genet. 2006 Dec;70:496-501; Ahn SH et al. Cancer Lett. 2007 Jan;245:90-5; Seong MW et al. Clin. Genet. 2009 Aug;76:152-60). This mutation was also detected in 1/230 unselected Japanese women with ovarian cancer (Hirasawa A et al. Oncotarget. 2017 Nov;8:112258-112267) and in a cohort of women diagnosed with triple negative breast cancer (Hoyer J et al. BMC Cancer. 2018 Sep;18:926). This alteration was identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum. Mutat. 2018 05;39:593-620). Of note, this alteration is also designated as 3746insA in published literature. In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Comment:
The BRCA1 p.Glu1210ArgfsX9 variant was identified in 20 of 10984 proband chromosomes (frequency: 0.002) from Korean and American individuals with breast and ovarian cancer and was not identified in 3738 control chromosomes from healthy individuals (Han 2006 17100994, Jang 2012 22217648, Park 2017 28205045 , Song 2014 24728189, Rebbeck 2016 27836010, Kim 2006 16949048, Park 2017 28111427). The variant was identified in 1 breast cancer case with a pathogenic BRCA2 variant, c.6724_6725delGA (Rebbeck 2016 27836010). The variant was also identified in dbSNP (ID: rs80357729) as “With Pathogenic allele”, in ClinVar (classified pathogenic, reviewed by an expert panel in 2016; submitters: ENIGMA, CIMBA, GeneDx, Invitae, Ambry Genetics, Counsyl, Quest Diagnostics Nichols Institute San Juan Capistrano, Color Genomics, Laboratory Corporation of America, SCRP, BIC), Clinvitae (6x), LOVD 3.0, UMD-LSDB (28x as causal), BIC Database (9x as class 5 pathogenic), ARUP Laboratories (as definitely pathogenic), but was not identified in Cosmic, MutDB, Zhejiang University Database, the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project, the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The c.3627dupA variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 1210 and leads to a premature stop codon 9 codons downstream. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the BRCA1 gene are an established mechanism of disease in hereditary breast and ovarian cancer and is the type of variant expected to cause the disorder. In summary, based on the above information this variant meets our laboratory’s criteria to be classified as pathogenic.
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Comment:
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Observed in association with breast and/or ovarian cancer and is a recurrent variant in Korean populations (Kim et al., 2006; Schneegans et al., 2012; Kim et al., 2012; Solano et al., 2012; Hirasawa et al., 2017; Lerner-Ellis et al., 2021); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Not observed at significant frequency in large population cohorts (gnomAD); Also known as 3746dupA; This variant is associated with the following publications: (PMID: 16949048, 24916970, 28012317, 24728189, 22217648, 22382806, 20950396, 22762150, 17100994, 29348823, 25863477, 11802209, 29907814, 30257646, 29922827, 28888541, 23633455, 22160602, 27836010, 28111427, 28205045, 16084575, 16455195, 23961350, 27488874, 22798144, 30720863, 30078507, 30720243, 30350268, 33087929, 30309222, 31825140, 32455662, 31090900, 31447099, 34657373, 30702160, 34645131, 32885271)
Comment:
BRCA1: PVS1, PM2, PS4:Moderate, PP1
Comment:
The c.3627dup (p.Glu1210Argfs*9) variant in the BRCA1 gene has been detected multiple patients with breast cancer and/or ovarian cancer [PMID 16949048, 23633455, 22160602]. This 1 bp duplication in exon 10 results in a frameshift and the creation of a premature stop codon. This variant is thus predicted to result in a loss of function of the protein. This variant has not been detected in the ExAC database. This variant thus classified as pathogenic.
Comment:
Variant summary: BRCA1 c.3627dupA (p.Glu1210ArgfsX9) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 7.9e-06 in 251602 control chromosomes. c.3627dupA has been reported in the literature in multiple individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (Kim_2006, Lecarpentier_2012, Solano_2013, Peixoto_2014). These data indicate that the variant is very likely to be associated with disease. Ten clinical diagnostic laboratories and one expert panel (ENIGMA) have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Comment:
ACMG criteria used to clasify this variant:PVS1, PS4_SUP, PM2_SUP
Comment:
This variant inserts 1 nucleotide in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been observed in multiple individuals and families affected with breast and ovarian cancer (PMID: 16084575, 16949048, 16455195 , 20033483, 22160602, 22762150, 22798144, 23961350, 23633455, 24728189, 24916970, 27167707, 29446198, 29907814, 30257646, 32019277). This variant has been identified in 2/251268 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Comment:
This sequence change creates a premature translational stop signal (p.Glu1210Argfs*9) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is present in population databases (rs80357729, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 16949048, 22160602, 22382806, 22798144, 23633455). This variant is also known as 3627insA and 3746insA. ClinVar contains an entry for this variant (Variation ID: 37534). For these reasons, this variant has been classified as Pathogenic.
Comment:
This variant inserts 1 nucleotide in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional studies have not been reported for this variant. This variant has been observed in multiple individuals and families affected with breast and ovarian cancer (PMID: 16084575, 16949048, 16455195 , 20033483, 22160602, 22762150, 22798144, 23961350, 23633455, 24728189, 24916970, 27167707, 29446198, 29907814, 30257646, 32019277). This variant has been identified in 2/251268 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Comment:
The p.Glu1210ArgfsX9 variant in BRCA1 has been reported in >10 individuals with breast and/or ovarian cancer (HBOC; Kim 2006, George 2013, Hirasawa 2017, Li 2018, BIC database). It has also been identified in 2/18370 East Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org); however, this frequency is low enough to be consistent with the frequency of hereditary breast and ovarian cancer in the general population. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 1210 and leads to a premature termination codon 9 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function of the BRCA1 gene is an established disease mechanism in autosomal dominant hereditary breast and ovarian cancer syndrome. Additionally, this variant was classified as Pathogenic on Apr 22, 2016 by the ClinGen-approved ENIGMA expert panel (Variation ID: 37534). In summary, this variant meets criteria to be classified as pathogenic for autosomal dominant HBOC. ACMG/AMP Criteria applied: PVS1, PM2, PS4_M.
Comment:
The c.3627dupA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of A at nucleotide position 3627, causing a translational frameshift with a predicted alternate stop codon (p.E1210Rfs*9). This mutation has been reported in many Korean breast and ovarian cancer families and may be associated with a Korean founder effect (Kim BY et al. Biochem. Biophys. Res. Commun. 2006 Oct;349:604-10; Schneegans SM et al. Fam. Cancer. 2012 Jun;11:181-8; George J et al. Clin. Cancer Res. 2013 Jul;19:3474-84; Kim H et al. Breast Cancer Res. Treat. 2012 Aug;134:1315-26; Jang JH et al. J. Hum. Genet. 2012 Mar;57:212-5; Son BH et al. Breast Cancer Res. Treat. 2012 Jun;133:1143-52; Song H et al. Hum. Mol. Genet. 2014 Sep;23:4703-9; Rebbeck TR et al. Breast Cancer Res. 2016 11;18:112; Park JS et al. Cancer Res. Treat. 2017 Oct;49:1012-1021; Han SH et al. Clin. Genet. 2006 Dec;70:496-501; Ahn SH et al. Cancer Lett. 2007 Jan;245:90-5; Seong MW et al. Clin. Genet. 2009 Aug;76:152-60). This mutation was also detected in 1/230 unselected Japanese women with ovarian cancer (Hirasawa A et al. Oncotarget. 2017 Nov;8:112258-112267) and in a cohort of women diagnosed with triple negative breast cancer (Hoyer J et al. BMC Cancer. 2018 Sep;18:926). This alteration was identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum. Mutat. 2018 05;39:593-620). Of note, this alteration is also designated as 3746insA in published literature. In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Comment:
The BRCA1 p.Glu1210ArgfsX9 variant was identified in 20 of 10984 proband chromosomes (frequency: 0.002) from Korean and American individuals with breast and ovarian cancer and was not identified in 3738 control chromosomes from healthy individuals (Han 2006 17100994, Jang 2012 22217648, Park 2017 28205045 , Song 2014 24728189, Rebbeck 2016 27836010, Kim 2006 16949048, Park 2017 28111427). The variant was identified in 1 breast cancer case with a pathogenic BRCA2 variant, c.6724_6725delGA (Rebbeck 2016 27836010). The variant was also identified in dbSNP (ID: rs80357729) as “With Pathogenic allele”, in ClinVar (classified pathogenic, reviewed by an expert panel in 2016; submitters: ENIGMA, CIMBA, GeneDx, Invitae, Ambry Genetics, Counsyl, Quest Diagnostics Nichols Institute San Juan Capistrano, Color Genomics, Laboratory Corporation of America, SCRP, BIC), Clinvitae (6x), LOVD 3.0, UMD-LSDB (28x as causal), BIC Database (9x as class 5 pathogenic), ARUP Laboratories (as definitely pathogenic), but was not identified in Cosmic, MutDB, Zhejiang University Database, the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project, the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The c.3627dupA variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 1210 and leads to a premature stop codon 9 codons downstream. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the BRCA1 gene are an established mechanism of disease in hereditary breast and ovarian cancer and is the type of variant expected to cause the disorder. In summary, based on the above information this variant meets our laboratory’s criteria to be classified as pathogenic.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test. | Shin HC | Cancer research and treatment | 2020 | PMID: 32019277 |
| Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients. | Bhaskaran SP | International journal of cancer | 2019 | PMID: 30702160 |
| Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria. | Hoyer J | BMC cancer | 2018 | PMID: 30257646 |
| BRCA germline mutations in an unselected nationwide cohort of Chinese patients with ovarian cancer and healthy controls. | Li A | Gynecologic oncology | 2018 | PMID: 30078507 |
| The germline mutational landscape of BRCA1 and BRCA2 in Brazil. | Palmero EI | Scientific reports | 2018 | PMID: 29907814 |
| Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
| Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer. | Hirasawa A | Oncotarget | 2017 | PMID: 29348823 |
| Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls. | Park JS | Cancer research and treatment | 2017 | PMID: 28111427 |
| Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women. | Rebbeck TR | Breast cancer research : BCR | 2016 | PMID: 27836010 |
| Detection of somatic BRCA1/2 mutations in ovarian cancer - next-generation sequencing analysis of 100 cases. | Koczkowska M | Cancer medicine | 2016 | PMID: 27167707 |
| Germline Mutations of BRCA1 and BRCA2 in Korean Ovarian Cancer Patients: Finding Founder Mutations. | Choi MC | International journal of gynecological cancer : official journal of the International Gynecological Cancer Society | 2015 | PMID: 26402875 |
| The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study. | Kang E | Breast cancer research and treatment | 2015 | PMID: 25863477 |
| The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry. | Peixoto A | Clinical genetics | 2015 | PMID: 24916970 |
| The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. | Song H | Human molecular genetics | 2014 | PMID: 24728189 |
| Nonequivalent gene expression and copy number alterations in high-grade serous ovarian cancers with BRCA1 and BRCA2 mutations. | George J | Clinical cancer research : an official journal of the American Association for Cancer Research | 2013 | PMID: 23633455 |
| BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin. | Solano AR | SpringerPlus | 2012 | PMID: 23961350 |
| Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer. | Kim H | Breast cancer research and treatment | 2012 | PMID: 22798144 |
| Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO). | Lecarpentier J | Breast cancer research : BCR | 2012 | PMID: 22762150 |
| Prevalence of BRCA1 and BRCA2 mutations in non-familial breast cancer patients with high risks in Korea: the Korean Hereditary Breast Cancer (KOHBRA) Study. | Son BH | Breast cancer research and treatment | 2012 | PMID: 22382806 |
| Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: the importance of whole-gene sequencing. | Jang JH | Journal of human genetics | 2012 | PMID: 22217648 |
| Validation of three BRCA1/2 mutation-carrier probability models Myriad, BRCAPRO and BOADICEA in a population-based series of 183 German families. | Schneegans SM | Familial cancer | 2012 | PMID: 22160602 |
| Family history, BRCA mutations and breast cancer in Vietnamese women. | Ginsburg OM | Clinical genetics | 2011 | PMID: 20950396 |
| Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | Borg A | Human mutation | 2010 | PMID: 20104584 |
| Broad BRCA1 and BRCA2 mutational spectrum and high incidence of recurrent and novel mutations in the eastern Spain population. | Esteban Cardeñosa E | Breast cancer research and treatment | 2010 | PMID: 20033483 |
| Comprehensive mutational analysis of BRCA1/BRCA2 for Korean breast cancer patients: evidence of a founder mutation. | Seong MW | Clinical genetics | 2009 | PMID: 19656164 |
| BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations. | Ahn SH | Cancer letters | 2007 | PMID: 16455195 |
| Mutation analysis of BRCA1 and BRCA2 from 793 Korean patients with sporadic breast cancer. | Han SH | Clinical genetics | 2006 | PMID: 17100994 |
| Identification of BRCA1 and BRCA2 mutations from Korean breast cancer patients using denaturing HPLC. | Kim BY | Biochemical and biophysical research communications | 2006 | PMID: 16949048 |
| Germline mutations of BRCA1 and BRCA2 in Korean sporadic ovarian carcinoma. | Kim YT | Gynecologic oncology | 2005 | PMID: 16084575 |
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Text-mined citations for rs80357729 ...
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Record last updated Nov 25, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.