Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.2299del (p.Ser767fs)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Pathogenic
Sep 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.2299del (p.Ser767fs)
Variation ID: 37462 Accession: VCV000037462.21
- Type and length
-
Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43093232 (GRCh38) [ NCBI UCSC ] 17: 41245249 (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 May 1, 2024 Sep 8, 2016 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.2299del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ser767fs frameshift NM_001407571.1:c.2086del NP_001394500.1:p.Ser696fs frameshift NM_001407581.1:c.2299del NP_001394510.1:p.Ser767fs frameshift NM_001407582.1:c.2299del NP_001394511.1:p.Ser767fs frameshift NM_001407583.1:c.2299del NP_001394512.1:p.Ser767fs frameshift NM_001407585.1:c.2299del NP_001394514.1:p.Ser767fs frameshift NM_001407587.1:c.2296del NP_001394516.1:p.Ser766fs frameshift NM_001407590.1:c.2296del NP_001394519.1:p.Ser766fs frameshift NM_001407591.1:c.2296del NP_001394520.1:p.Ser766fs frameshift NM_001407593.1:c.2299del NP_001394522.1:p.Ser767fs frameshift NM_001407594.1:c.2299del NP_001394523.1:p.Ser767fs frameshift NM_001407596.1:c.2299del NP_001394525.1:p.Ser767fs frameshift NM_001407597.1:c.2299del NP_001394526.1:p.Ser767fs frameshift NM_001407598.1:c.2299del NP_001394527.1:p.Ser767fs frameshift NM_001407602.1:c.2299del NP_001394531.1:p.Ser767fs frameshift NM_001407603.1:c.2299del NP_001394532.1:p.Ser767fs frameshift NM_001407605.1:c.2299del NP_001394534.1:p.Ser767fs frameshift NM_001407610.1:c.2296del NP_001394539.1:p.Ser766fs frameshift NM_001407611.1:c.2296del NP_001394540.1:p.Ser766fs frameshift NM_001407612.1:c.2296del NP_001394541.1:p.Ser766fs frameshift NM_001407613.1:c.2296del NP_001394542.1:p.Ser766fs frameshift NM_001407614.1:c.2296del NP_001394543.1:p.Ser766fs frameshift NM_001407615.1:c.2296del NP_001394544.1:p.Ser766fs frameshift NM_001407616.1:c.2299del NP_001394545.1:p.Ser767fs frameshift NM_001407617.1:c.2299del NP_001394546.1:p.Ser767fs frameshift NM_001407618.1:c.2299del NP_001394547.1:p.Ser767fs frameshift NM_001407619.1:c.2299del NP_001394548.1:p.Ser767fs frameshift NM_001407620.1:c.2299del NP_001394549.1:p.Ser767fs frameshift NM_001407621.1:c.2299del NP_001394550.1:p.Ser767fs frameshift NM_001407622.1:c.2299del NP_001394551.1:p.Ser767fs frameshift NM_001407623.1:c.2299del NP_001394552.1:p.Ser767fs frameshift NM_001407624.1:c.2299del NP_001394553.1:p.Ser767fs frameshift NM_001407625.1:c.2299del NP_001394554.1:p.Ser767fs frameshift NM_001407626.1:c.2299del NP_001394555.1:p.Ser767fs frameshift NM_001407627.1:c.2296del NP_001394556.1:p.Ser766fs frameshift NM_001407628.1:c.2296del NP_001394557.1:p.Ser766fs frameshift NM_001407629.1:c.2296del NP_001394558.1:p.Ser766fs frameshift NM_001407630.1:c.2296del NP_001394559.1:p.Ser766fs frameshift NM_001407631.1:c.2296del NP_001394560.1:p.Ser766fs frameshift NM_001407632.1:c.2296del NP_001394561.1:p.Ser766fs frameshift NM_001407633.1:c.2296del NP_001394562.1:p.Ser766fs frameshift NM_001407634.1:c.2296del NP_001394563.1:p.Ser766fs frameshift NM_001407635.1:c.2296del NP_001394564.1:p.Ser766fs frameshift NM_001407636.1:c.2296del NP_001394565.1:p.Ser766fs frameshift NM_001407637.1:c.2296del NP_001394566.1:p.Ser766fs frameshift NM_001407638.1:c.2296del NP_001394567.1:p.Ser766fs frameshift NM_001407639.1:c.2299del NP_001394568.1:p.Ser767fs frameshift NM_001407640.1:c.2299del NP_001394569.1:p.Ser767fs frameshift NM_001407641.1:c.2299del NP_001394570.1:p.Ser767fs frameshift NM_001407642.1:c.2299del NP_001394571.1:p.Ser767fs frameshift NM_001407644.1:c.2296del NP_001394573.1:p.Ser766fs frameshift NM_001407645.1:c.2296del NP_001394574.1:p.Ser766fs frameshift NM_001407646.1:c.2290del NP_001394575.1:p.Ser764fs frameshift NM_001407647.1:c.2290del NP_001394576.1:p.Ser764fs frameshift NM_001407648.1:c.2176del NP_001394577.1:p.Ser726fs frameshift NM_001407649.1:c.2173del NP_001394578.1:p.Ser725fs frameshift NM_001407652.1:c.2299del NP_001394581.1:p.Ser767fs frameshift NM_001407653.1:c.2221del NP_001394582.1:p.Ser741fs frameshift NM_001407654.1:c.2221del NP_001394583.1:p.Ser741fs frameshift NM_001407655.1:c.2221del NP_001394584.1:p.Ser741fs frameshift NM_001407656.1:c.2221del NP_001394585.1:p.Ser741fs frameshift NM_001407657.1:c.2221del NP_001394586.1:p.Ser741fs frameshift NM_001407658.1:c.2221del NP_001394587.1:p.Ser741fs frameshift NM_001407659.1:c.2218del NP_001394588.1:p.Ser740fs frameshift NM_001407660.1:c.2218del NP_001394589.1:p.Ser740fs frameshift NM_001407661.1:c.2218del NP_001394590.1:p.Ser740fs frameshift NM_001407662.1:c.2218del NP_001394591.1:p.Ser740fs frameshift NM_001407663.1:c.2221del NP_001394592.1:p.Ser741fs frameshift NM_001407664.1:c.2176del NP_001394593.1:p.Ser726fs frameshift NM_001407665.1:c.2176del NP_001394594.1:p.Ser726fs frameshift NM_001407666.1:c.2176del NP_001394595.1:p.Ser726fs frameshift NM_001407667.1:c.2176del NP_001394596.1:p.Ser726fs frameshift NM_001407668.1:c.2176del NP_001394597.1:p.Ser726fs frameshift NM_001407669.1:c.2176del NP_001394598.1:p.Ser726fs frameshift NM_001407670.1:c.2173del NP_001394599.1:p.Ser725fs frameshift NM_001407671.1:c.2173del NP_001394600.1:p.Ser725fs frameshift NM_001407672.1:c.2173del NP_001394601.1:p.Ser725fs frameshift NM_001407673.1:c.2173del NP_001394602.1:p.Ser725fs frameshift NM_001407674.1:c.2176del NP_001394603.1:p.Ser726fs frameshift NM_001407675.1:c.2176del NP_001394604.1:p.Ser726fs frameshift NM_001407676.1:c.2176del NP_001394605.1:p.Ser726fs frameshift NM_001407677.1:c.2176del NP_001394606.1:p.Ser726fs frameshift NM_001407678.1:c.2176del NP_001394607.1:p.Ser726fs frameshift NM_001407679.1:c.2176del NP_001394608.1:p.Ser726fs frameshift NM_001407680.1:c.2176del NP_001394609.1:p.Ser726fs frameshift NM_001407681.1:c.2176del NP_001394610.1:p.Ser726fs frameshift NM_001407682.1:c.2176del NP_001394611.1:p.Ser726fs frameshift NM_001407683.1:c.2176del NP_001394612.1:p.Ser726fs frameshift NM_001407684.1:c.2299del NP_001394613.1:p.Ser767fs frameshift NM_001407685.1:c.2173del NP_001394614.1:p.Ser725fs frameshift NM_001407686.1:c.2173del NP_001394615.1:p.Ser725fs frameshift NM_001407687.1:c.2173del NP_001394616.1:p.Ser725fs frameshift NM_001407688.1:c.2173del NP_001394617.1:p.Ser725fs frameshift NM_001407689.1:c.2173del NP_001394618.1:p.Ser725fs frameshift NM_001407690.1:c.2173del NP_001394619.1:p.Ser725fs frameshift NM_001407691.1:c.2173del NP_001394620.1:p.Ser725fs frameshift NM_001407692.1:c.2158del NP_001394621.1:p.Ser720fs frameshift NM_001407694.1:c.2158del NP_001394623.1:p.Ser720fs frameshift NM_001407695.1:c.2158del NP_001394624.1:p.Ser720fs frameshift NM_001407696.1:c.2158del NP_001394625.1:p.Ser720fs frameshift NM_001407697.1:c.2158del NP_001394626.1:p.Ser720fs frameshift NM_001407698.1:c.2158del NP_001394627.1:p.Ser720fs frameshift NM_001407724.1:c.2158del NP_001394653.1:p.Ser720fs frameshift NM_001407725.1:c.2158del NP_001394654.1:p.Ser720fs frameshift NM_001407726.1:c.2158del NP_001394655.1:p.Ser720fs frameshift NM_001407727.1:c.2158del NP_001394656.1:p.Ser720fs frameshift NM_001407728.1:c.2158del NP_001394657.1:p.Ser720fs frameshift NM_001407729.1:c.2158del NP_001394658.1:p.Ser720fs frameshift NM_001407730.1:c.2158del NP_001394659.1:p.Ser720fs frameshift NM_001407731.1:c.2158del NP_001394660.1:p.Ser720fs frameshift NM_001407732.1:c.2158del NP_001394661.1:p.Ser720fs frameshift NM_001407733.1:c.2158del NP_001394662.1:p.Ser720fs frameshift NM_001407734.1:c.2158del NP_001394663.1:p.Ser720fs frameshift NM_001407735.1:c.2158del NP_001394664.1:p.Ser720fs frameshift NM_001407736.1:c.2158del NP_001394665.1:p.Ser720fs frameshift NM_001407737.1:c.2158del NP_001394666.1:p.Ser720fs frameshift NM_001407738.1:c.2158del NP_001394667.1:p.Ser720fs frameshift NM_001407739.1:c.2158del NP_001394668.1:p.Ser720fs frameshift NM_001407740.1:c.2155del NP_001394669.1:p.Ser719fs frameshift NM_001407741.1:c.2155del NP_001394670.1:p.Ser719fs frameshift NM_001407742.1:c.2155del NP_001394671.1:p.Ser719fs frameshift NM_001407743.1:c.2155del NP_001394672.1:p.Ser719fs frameshift NM_001407744.1:c.2155del NP_001394673.1:p.Ser719fs frameshift NM_001407745.1:c.2155del NP_001394674.1:p.Ser719fs frameshift NM_001407746.1:c.2155del NP_001394675.1:p.Ser719fs frameshift NM_001407747.1:c.2155del NP_001394676.1:p.Ser719fs frameshift NM_001407748.1:c.2155del NP_001394677.1:p.Ser719fs frameshift NM_001407749.1:c.2155del NP_001394678.1:p.Ser719fs frameshift NM_001407750.1:c.2158del NP_001394679.1:p.Ser720fs frameshift NM_001407751.1:c.2158del NP_001394680.1:p.Ser720fs frameshift NM_001407752.1:c.2158del NP_001394681.1:p.Ser720fs frameshift NM_001407838.1:c.2155del NP_001394767.1:p.Ser719fs frameshift NM_001407839.1:c.2155del NP_001394768.1:p.Ser719fs frameshift NM_001407841.1:c.2155del NP_001394770.1:p.Ser719fs frameshift NM_001407842.1:c.2155del NP_001394771.1:p.Ser719fs frameshift NM_001407843.1:c.2155del NP_001394772.1:p.Ser719fs frameshift NM_001407844.1:c.2155del NP_001394773.1:p.Ser719fs frameshift NM_001407845.1:c.2155del NP_001394774.1:p.Ser719fs frameshift NM_001407846.1:c.2155del NP_001394775.1:p.Ser719fs frameshift NM_001407847.1:c.2155del NP_001394776.1:p.Ser719fs frameshift NM_001407848.1:c.2155del NP_001394777.1:p.Ser719fs frameshift NM_001407849.1:c.2155del NP_001394778.1:p.Ser719fs frameshift NM_001407850.1:c.2158del NP_001394779.1:p.Ser720fs frameshift NM_001407851.1:c.2158del NP_001394780.1:p.Ser720fs frameshift NM_001407852.1:c.2158del NP_001394781.1:p.Ser720fs frameshift NM_001407853.1:c.2086del NP_001394782.1:p.Ser696fs frameshift NM_001407854.1:c.2299del NP_001394783.1:p.Ser767fs frameshift NM_001407858.1:c.2299del NP_001394787.1:p.Ser767fs frameshift NM_001407859.1:c.2299del NP_001394788.1:p.Ser767fs frameshift NM_001407860.1:c.2296del NP_001394789.1:p.Ser766fs frameshift NM_001407861.1:c.2296del NP_001394790.1:p.Ser766fs frameshift NM_001407862.1:c.2098del NP_001394791.1:p.Ser700fs frameshift NM_001407863.1:c.2176del NP_001394792.1:p.Ser726fs frameshift NM_001407874.1:c.2095del NP_001394803.1:p.Ser699fs frameshift NM_001407875.1:c.2095del NP_001394804.1:p.Ser699fs frameshift NM_001407879.1:c.2089del NP_001394808.1:p.Ser697fs frameshift NM_001407881.1:c.2089del NP_001394810.1:p.Ser697fs frameshift NM_001407882.1:c.2089del NP_001394811.1:p.Ser697fs frameshift NM_001407884.1:c.2089del NP_001394813.1:p.Ser697fs frameshift NM_001407885.1:c.2089del NP_001394814.1:p.Ser697fs frameshift NM_001407886.1:c.2089del NP_001394815.1:p.Ser697fs frameshift NM_001407887.1:c.2089del NP_001394816.1:p.Ser697fs frameshift NM_001407889.1:c.2089del NP_001394818.1:p.Ser697fs frameshift NM_001407894.1:c.2086del NP_001394823.1:p.Ser696fs frameshift NM_001407895.1:c.2086del NP_001394824.1:p.Ser696fs frameshift NM_001407896.1:c.2086del NP_001394825.1:p.Ser696fs frameshift NM_001407897.1:c.2086del NP_001394826.1:p.Ser696fs frameshift NM_001407898.1:c.2086del NP_001394827.1:p.Ser696fs frameshift NM_001407899.1:c.2086del NP_001394828.1:p.Ser696fs frameshift NM_001407900.1:c.2089del NP_001394829.1:p.Ser697fs frameshift NM_001407902.1:c.2089del NP_001394831.1:p.Ser697fs frameshift NM_001407904.1:c.2089del NP_001394833.1:p.Ser697fs frameshift NM_001407906.1:c.2089del NP_001394835.1:p.Ser697fs frameshift NM_001407907.1:c.2089del NP_001394836.1:p.Ser697fs frameshift NM_001407908.1:c.2089del NP_001394837.1:p.Ser697fs frameshift NM_001407909.1:c.2089del NP_001394838.1:p.Ser697fs frameshift NM_001407910.1:c.2089del NP_001394839.1:p.Ser697fs frameshift NM_001407915.1:c.2086del NP_001394844.1:p.Ser696fs frameshift NM_001407916.1:c.2086del NP_001394845.1:p.Ser696fs frameshift NM_001407917.1:c.2086del NP_001394846.1:p.Ser696fs frameshift NM_001407918.1:c.2086del NP_001394847.1:p.Ser696fs frameshift NM_001407919.1:c.2176del NP_001394848.1:p.Ser726fs frameshift NM_001407920.1:c.2035del NP_001394849.1:p.Ser679fs frameshift NM_001407921.1:c.2035del NP_001394850.1:p.Ser679fs frameshift NM_001407922.1:c.2035del NP_001394851.1:p.Ser679fs frameshift NM_001407923.1:c.2035del NP_001394852.1:p.Ser679fs frameshift NM_001407924.1:c.2035del NP_001394853.1:p.Ser679fs frameshift NM_001407925.1:c.2035del NP_001394854.1:p.Ser679fs frameshift NM_001407926.1:c.2035del NP_001394855.1:p.Ser679fs frameshift NM_001407927.1:c.2035del NP_001394856.1:p.Ser679fs frameshift NM_001407928.1:c.2035del NP_001394857.1:p.Ser679fs frameshift NM_001407929.1:c.2035del NP_001394858.1:p.Ser679fs frameshift NM_001407930.1:c.2032del NP_001394859.1:p.Ser678fs frameshift NM_001407931.1:c.2032del NP_001394860.1:p.Ser678fs frameshift NM_001407932.1:c.2032del NP_001394861.1:p.Ser678fs frameshift NM_001407933.1:c.2035del NP_001394862.1:p.Ser679fs frameshift NM_001407934.1:c.2032del NP_001394863.1:p.Ser678fs frameshift NM_001407935.1:c.2035del NP_001394864.1:p.Ser679fs frameshift NM_001407936.1:c.2032del NP_001394865.1:p.Ser678fs frameshift NM_001407937.1:c.2176del NP_001394866.1:p.Ser726fs frameshift NM_001407938.1:c.2176del NP_001394867.1:p.Ser726fs frameshift NM_001407939.1:c.2176del NP_001394868.1:p.Ser726fs frameshift NM_001407940.1:c.2173del NP_001394869.1:p.Ser725fs frameshift NM_001407941.1:c.2173del NP_001394870.1:p.Ser725fs frameshift NM_001407942.1:c.2158del NP_001394871.1:p.Ser720fs frameshift NM_001407943.1:c.2155del NP_001394872.1:p.Ser719fs frameshift NM_001407944.1:c.2158del NP_001394873.1:p.Ser720fs frameshift NM_001407945.1:c.2158del NP_001394874.1:p.Ser720fs frameshift NM_001407946.1:c.1966del NP_001394875.1:p.Ser656fs frameshift NM_001407947.1:c.1966del NP_001394876.1:p.Ser656fs frameshift NM_001407948.1:c.1966del NP_001394877.1:p.Ser656fs frameshift NM_001407949.1:c.1966del NP_001394878.1:p.Ser656fs frameshift NM_001407950.1:c.1966del NP_001394879.1:p.Ser656fs frameshift NM_001407951.1:c.1966del NP_001394880.1:p.Ser656fs frameshift NM_001407952.1:c.1966del NP_001394881.1:p.Ser656fs frameshift NM_001407953.1:c.1966del NP_001394882.1:p.Ser656fs frameshift NM_001407954.1:c.1963del NP_001394883.1:p.Ser655fs frameshift NM_001407955.1:c.1963del NP_001394884.1:p.Ser655fs frameshift NM_001407956.1:c.1963del NP_001394885.1:p.Ser655fs frameshift NM_001407957.1:c.1966del NP_001394886.1:p.Ser656fs frameshift NM_001407958.1:c.1963del NP_001394887.1:p.Ser655fs frameshift NM_001407959.1:c.1918del NP_001394888.1:p.Ser640fs frameshift NM_001407960.1:c.1918del NP_001394889.1:p.Ser640fs frameshift NM_001407962.1:c.1915del NP_001394891.1:p.Ser639fs frameshift NM_001407963.1:c.1918del NP_001394892.1:p.Ser640fs frameshift NM_001407964.1:c.2155del NP_001394893.1:p.Ser719fs frameshift NM_001407965.1:c.1795del NP_001394894.1:p.Ser599fs frameshift NM_001407966.1:c.1411del NP_001394895.1:p.Ser471fs frameshift NM_001407967.1:c.1411del NP_001394896.1:p.Ser471fs frameshift NM_001407968.1:c.788-1093del intron variant NM_001407969.1:c.788-1093del intron variant NM_001407970.1:c.787+1512del intron variant NM_001407971.1:c.787+1512del intron variant NM_001407972.1:c.784+1512del intron variant NM_001407973.1:c.787+1512del intron variant NM_001407974.1:c.787+1512del intron variant NM_001407975.1:c.787+1512del intron variant NM_001407976.1:c.787+1512del intron variant NM_001407977.1:c.787+1512del intron variant NM_001407978.1:c.787+1512del intron variant NM_001407979.1:c.787+1512del intron variant NM_001407980.1:c.787+1512del intron variant NM_001407981.1:c.787+1512del intron variant NM_001407982.1:c.787+1512del intron variant NM_001407983.1:c.787+1512del intron variant NM_001407984.1:c.784+1512del intron variant NM_001407985.1:c.784+1512del intron variant NM_001407986.1:c.784+1512del intron variant NM_001407990.1:c.787+1512del intron variant NM_001407991.1:c.784+1512del intron variant NM_001407992.1:c.784+1512del intron variant NM_001407993.1:c.787+1512del intron variant NM_001408392.1:c.784+1512del intron variant NM_001408396.1:c.784+1512del intron variant NM_001408397.1:c.784+1512del intron variant NM_001408398.1:c.784+1512del intron variant NM_001408399.1:c.784+1512del intron variant NM_001408400.1:c.784+1512del intron variant NM_001408401.1:c.784+1512del intron variant NM_001408402.1:c.784+1512del intron variant NM_001408403.1:c.787+1512del intron variant NM_001408404.1:c.787+1512del intron variant NM_001408406.1:c.790+1509del intron variant NM_001408407.1:c.784+1512del intron variant NM_001408408.1:c.778+1512del intron variant NM_001408409.1:c.709+1512del intron variant NM_001408410.1:c.646+1512del intron variant NM_001408411.1:c.709+1512del intron variant NM_001408412.1:c.709+1512del intron variant NM_001408413.1:c.706+1512del intron variant NM_001408414.1:c.709+1512del intron variant NM_001408415.1:c.709+1512del intron variant NM_001408416.1:c.706+1512del intron variant NM_001408418.1:c.671-2200del intron variant NM_001408419.1:c.671-2200del intron variant NM_001408420.1:c.671-2200del intron variant NM_001408421.1:c.668-2200del intron variant NM_001408422.1:c.671-2200del intron variant NM_001408423.1:c.671-2200del intron variant NM_001408424.1:c.668-2200del intron variant NM_001408425.1:c.664+1512del intron variant NM_001408426.1:c.664+1512del intron variant NM_001408427.1:c.664+1512del intron variant NM_001408428.1:c.664+1512del intron variant NM_001408429.1:c.664+1512del intron variant NM_001408430.1:c.664+1512del intron variant NM_001408431.1:c.668-2200del intron variant NM_001408432.1:c.661+1512del intron variant NM_001408433.1:c.661+1512del intron variant NM_001408434.1:c.661+1512del intron variant NM_001408435.1:c.661+1512del intron variant NM_001408436.1:c.664+1512del intron variant NM_001408437.1:c.664+1512del intron variant NM_001408438.1:c.664+1512del intron variant NM_001408439.1:c.664+1512del intron variant NM_001408440.1:c.664+1512del intron variant NM_001408441.1:c.664+1512del intron variant NM_001408442.1:c.664+1512del intron variant NM_001408443.1:c.664+1512del intron variant NM_001408444.1:c.664+1512del intron variant NM_001408445.1:c.661+1512del intron variant NM_001408446.1:c.661+1512del intron variant NM_001408447.1:c.661+1512del intron variant NM_001408448.1:c.661+1512del intron variant NM_001408450.1:c.661+1512del intron variant NM_001408451.1:c.652+1512del intron variant NM_001408452.1:c.646+1512del intron variant NM_001408453.1:c.646+1512del intron variant NM_001408454.1:c.646+1512del intron variant NM_001408455.1:c.646+1512del intron variant NM_001408456.1:c.646+1512del intron variant NM_001408457.1:c.646+1512del intron variant NM_001408458.1:c.646+1512del intron variant NM_001408459.1:c.646+1512del intron variant NM_001408460.1:c.646+1512del intron variant NM_001408461.1:c.646+1512del intron variant NM_001408462.1:c.643+1512del intron variant NM_001408463.1:c.643+1512del intron variant NM_001408464.1:c.643+1512del intron variant NM_001408465.1:c.643+1512del intron variant NM_001408466.1:c.646+1512del intron variant NM_001408467.1:c.646+1512del intron variant NM_001408468.1:c.643+1512del intron variant NM_001408469.1:c.646+1512del intron variant NM_001408470.1:c.643+1512del intron variant NM_001408472.1:c.787+1512del intron variant NM_001408473.1:c.784+1512del intron variant NM_001408474.1:c.586+1512del intron variant NM_001408475.1:c.583+1512del intron variant NM_001408476.1:c.586+1512del intron variant NM_001408478.1:c.577+1512del intron variant NM_001408479.1:c.577+1512del intron variant NM_001408480.1:c.577+1512del intron variant NM_001408481.1:c.577+1512del intron variant NM_001408482.1:c.577+1512del intron variant NM_001408483.1:c.577+1512del intron variant NM_001408484.1:c.577+1512del intron variant NM_001408485.1:c.577+1512del intron variant NM_001408489.1:c.577+1512del intron variant NM_001408490.1:c.574+1512del intron variant NM_001408491.1:c.574+1512del intron variant NM_001408492.1:c.577+1512del intron variant NM_001408493.1:c.574+1512del intron variant NM_001408494.1:c.548-2200del intron variant NM_001408495.1:c.545-2200del intron variant NM_001408496.1:c.523+1512del intron variant NM_001408497.1:c.523+1512del intron variant NM_001408498.1:c.523+1512del intron variant NM_001408499.1:c.523+1512del intron variant NM_001408500.1:c.523+1512del intron variant NM_001408501.1:c.523+1512del intron variant NM_001408502.1:c.454+1512del intron variant NM_001408503.1:c.520+1512del intron variant NM_001408504.1:c.520+1512del intron variant NM_001408505.1:c.520+1512del intron variant NM_001408506.1:c.461-2200del intron variant NM_001408507.1:c.461-2200del intron variant NM_001408508.1:c.451+1512del intron variant NM_001408509.1:c.451+1512del intron variant NM_001408510.1:c.406+1512del intron variant NM_001408511.1:c.404-2200del intron variant NM_001408512.1:c.283+1512del intron variant NM_001408513.1:c.577+1512del intron variant NM_001408514.1:c.577+1512del intron variant NM_007297.4:c.2158del NP_009228.2:p.Ser720fs frameshift NM_007298.4:c.787+1512del intron variant NM_007299.4:c.787+1512del intron variant NM_007300.4:c.2299del NP_009231.2:p.Ser767fs frameshift NR_027676.1:n.2435delA NC_000017.11:g.43093232del NC_000017.10:g.41245249del NG_005905.2:g.124752del LRG_292:g.124752del LRG_292t1:c.2299del LRG_292p1:p.Ser767Alafs U14680.1:n.2418delA - Protein change
- S767fs, S720fs, S656fs, S697fs, S699fs, S725fs, S726fs, S766fs, S471fs, S640fs, S679fs, S719fs, S655fs, S696fs, S599fs, S639fs, S678fs, S700fs, S740fs, S741fs, S764fs
- Other names
-
2418delA
- Canonical SPDI
- NC_000017.11:43093231:T:
-
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.
-
Trans-Omics for Precision Medicine (TOPMed) 0.00000
- 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 | |
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 (6) |
reviewed by expert panel
|
Sep 8, 2016 | RCV000031043.17 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Feb 14, 2023 | RCV000132306.16 | |
| Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Oct 3, 2023 | RCV000481946.11 | |
| Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Jan 24, 2024 | RCV000587984.17 |
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
(Sep 08, 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: SCV000299742.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
|
Pathogenic
(Jan 24, 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: SCV000944014.6
First in ClinVar: Aug 14, 2019 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Ser767Alafs*25) 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.Ser767Alafs*25) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with ovarian cancer and breast cancer (PMID: 10686936, 26187060). This variant is also known as 2418delA. ClinVar contains an entry for this variant (Variation ID: 37462). For these reasons, this variant has been classified as Pathogenic. (less)
|
|
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Pathogenic
(Oct 03, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000568419.4
First in ClinVar: Apr 27, 2017 Last updated: Nov 25, 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; 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 2418delA; This variant is associated with the following publications: (PMID: 26187060, 10459348, 10686936, 12491487, 17688236, 21614564, 26250392, 21702907, 26269718, 28152038, 16267036, 30702160, 20104584, 29446198, 35535697, 31825140) (less)
|
|
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Pathogenic
(Sep 28, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004216904.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
|
|
|
Pathogenic
(Dec 06, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV004222596.1
First in ClinVar: Jan 06, 2024 Last updated: Jan 06, 2024 |
Comment:
This frameshift variant alters the translational reading frame of the BRCA1 mRNA and causes the premature termination of BRCA1 protein synthesis. This variant has not … (more)
This frameshift variant alters the translational reading frame of the BRCA1 mRNA and causes the premature termination of BRCA1 protein synthesis. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, the variant has been reported in individuals with breast cancer (PMID: 26250392 (2015), 21614564 (2012), 12491487 (2003)), and in individuals with ovarian cancer (PMID: 10686936 (1999), 10459348 (1999)). Based on the available information, this variant is classified as pathogenic. (less)
|
|
|
Pathogenic
(Nov 24, 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: SCV000698936.2
First in ClinVar: Mar 17, 2018 Last updated: Dec 07, 2020 |
Comment:
Variant summary: BRCA1 c.2299delA (p.Ser767AlafsX25) 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.2299delA (p.Ser767AlafsX25) 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 was absent in 251084 control chromosomes (gnomAD). c.2299delA has been reported in the literature in multiple individuals affected with Hereditary Breast and Ovarian Cancer Syndrome. These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Five other submitters, including an expert panel (ENIGMA), have provided clinical-significance assessments for this variant in ClinVar after 2014, and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
|
|
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Pathogenic
(May 01, 2021)
|
criteria provided, single submitter
Method: research
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Laan Lab, Human Genetics Research Group, University of Tartu
Accession: SCV002538615.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022 |
Number of individuals with the variant: 1
Clinical Features:
Non-obstructive azoospermia (present)
Secondary finding: yes
Method: exome sequencing
|
|
|
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: SCV000325317.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
|
|
Pathogenic
(Feb 14, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000187392.9
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
The c.2299delA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2299, causing … (more)
The c.2299delA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2299, causing a translational frameshift with a predicted alternate stop codon (p.S767Afs*25). This mutation has been reported in multiple individuals with a personal and/or family history consistent with Hereditary Breast and Ovarian Cancer syndrome (HBOC) (Tworek H et al. Cancer Genet. Cytogenet. 1999 Jul;112:105-18; Fetzer S et al. Cancer Genet. Cytogenet. 1999 Aug;113:58-64; Ramus SJ et al. Hum. Mutat. 2007 Dec;28:1207-15; Zhang J et al. Breast Cancer Res. Treat. 2012 Apr;132:421-8; Lynce F et al. Breast Cancer Res. Treat. 2015 Aug;153:201-9; Bhaskaran SP et al. Int. J. Cancer. 2019 Jan). This alteration was also identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum. Mutat. 2018 05;39:593-620). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
|
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144372.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 1
Observation 2:
Number of individuals with the variant: 1
Geographic origin: African American
Observation 3:
Number of individuals with the variant: 3
Ethnicity/Population group: African
Observation 4:
Number of individuals with the variant: 2
Ethnicity/Population group: African American
Geographic origin: American
|
|
|
Pathogenic
(Mar 10, 2010)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
|
Sharing Clinical Reports Project (SCRP)
Accession: SCV000053637.3
First in ClinVar: Apr 04, 2013 Last updated: Sep 27, 2014 |
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Comment:
Comment:
This sequence change creates a premature translational stop signal (p.Ser767Alafs*25) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with ovarian cancer and breast cancer (PMID: 10686936, 26187060). This variant is also known as 2418delA. ClinVar contains an entry for this variant (Variation ID: 37462). For these reasons, this variant has been classified as Pathogenic.
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; 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 2418delA; This variant is associated with the following publications: (PMID: 26187060, 10459348, 10686936, 12491487, 17688236, 21614564, 26250392, 21702907, 26269718, 28152038, 16267036, 30702160, 20104584, 29446198, 35535697, 31825140)
Comment:
This frameshift variant alters the translational reading frame of the BRCA1 mRNA and causes the premature termination of BRCA1 protein synthesis. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, the variant has been reported in individuals with breast cancer (PMID: 26250392 (2015), 21614564 (2012), 12491487 (2003)), and in individuals with ovarian cancer (PMID: 10686936 (1999), 10459348 (1999)). Based on the available information, this variant is classified as pathogenic.
Comment:
Variant summary: BRCA1 c.2299delA (p.Ser767AlafsX25) 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 was absent in 251084 control chromosomes (gnomAD). c.2299delA has been reported in the literature in multiple individuals affected with Hereditary Breast and Ovarian Cancer Syndrome. These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Five other submitters, including an expert panel (ENIGMA), have provided clinical-significance assessments for this variant in ClinVar after 2014, and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Comment:
The c.2299delA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2299, causing a translational frameshift with a predicted alternate stop codon (p.S767Afs*25). This mutation has been reported in multiple individuals with a personal and/or family history consistent with Hereditary Breast and Ovarian Cancer syndrome (HBOC) (Tworek H et al. Cancer Genet. Cytogenet. 1999 Jul;112:105-18; Fetzer S et al. Cancer Genet. Cytogenet. 1999 Aug;113:58-64; Ramus SJ et al. Hum. Mutat. 2007 Dec;28:1207-15; Zhang J et al. Breast Cancer Res. Treat. 2012 Apr;132:421-8; Lynce F et al. Breast Cancer Res. Treat. 2015 Aug;153:201-9; Bhaskaran SP et al. Int. J. Cancer. 2019 Jan). This alteration was also identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum. Mutat. 2018 05;39:593-620). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.
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:
This sequence change creates a premature translational stop signal (p.Ser767Alafs*25) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with ovarian cancer and breast cancer (PMID: 10686936, 26187060). This variant is also known as 2418delA. ClinVar contains an entry for this variant (Variation ID: 37462). For these reasons, this variant has been classified as Pathogenic.
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; 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 2418delA; This variant is associated with the following publications: (PMID: 26187060, 10459348, 10686936, 12491487, 17688236, 21614564, 26250392, 21702907, 26269718, 28152038, 16267036, 30702160, 20104584, 29446198, 35535697, 31825140)
Comment:
This frameshift variant alters the translational reading frame of the BRCA1 mRNA and causes the premature termination of BRCA1 protein synthesis. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, the variant has been reported in individuals with breast cancer (PMID: 26250392 (2015), 21614564 (2012), 12491487 (2003)), and in individuals with ovarian cancer (PMID: 10686936 (1999), 10459348 (1999)). Based on the available information, this variant is classified as pathogenic.
Comment:
Variant summary: BRCA1 c.2299delA (p.Ser767AlafsX25) 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 was absent in 251084 control chromosomes (gnomAD). c.2299delA has been reported in the literature in multiple individuals affected with Hereditary Breast and Ovarian Cancer Syndrome. These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Five other submitters, including an expert panel (ENIGMA), have provided clinical-significance assessments for this variant in ClinVar after 2014, and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Comment:
The c.2299delA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2299, causing a translational frameshift with a predicted alternate stop codon (p.S767Afs*25). This mutation has been reported in multiple individuals with a personal and/or family history consistent with Hereditary Breast and Ovarian Cancer syndrome (HBOC) (Tworek H et al. Cancer Genet. Cytogenet. 1999 Jul;112:105-18; Fetzer S et al. Cancer Genet. Cytogenet. 1999 Aug;113:58-64; Ramus SJ et al. Hum. Mutat. 2007 Dec;28:1207-15; Zhang J et al. Breast Cancer Res. Treat. 2012 Apr;132:421-8; Lynce F et al. Breast Cancer Res. Treat. 2015 Aug;153:201-9; Bhaskaran SP et al. Int. J. Cancer. 2019 Jan). This alteration was also identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum. Mutat. 2018 05;39:593-620). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management. | Kasak L | Human reproduction (Oxford, England) | 2022 | PMID: 35535697 |
| Comprehensive profiling of BRCA1 and BRCA2 variants in breast and ovarian cancer in Chinese patients. | Gao X | Human mutation | 2020 | PMID: 31825140 |
| 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 |
| Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
| Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries. | Kwong A | Journal of medical genetics | 2016 | PMID: 26187060 |
| Deleterious BRCA1/2 mutations in an urban population of Black women. | Lynce F | Breast cancer research and treatment | 2015 | PMID: 26250392 |
| Prevalence and characterization of BRCA1 and BRCA2 germline mutations in Chinese women with familial breast cancer. | Zhang J | Breast cancer research and treatment | 2012 | PMID: 21614564 |
| A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes. | Hondow HL | BMC cancer | 2011 | PMID: 21702907 |
| 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 |
| Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer. | Ramus SJ | Human mutation | 2007 | PMID: 17688236 |
| Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. | Judkins T | Cancer research | 2005 | PMID: 16267036 |
| Breast cancer genetics in African Americans. | Olopade OI | Cancer | 2003 | PMID: 12491487 |
| Mutation analysis of BRCA1, TP53, and KRAS2 in ovarian and related pelvic tumors. | Tworek H | Cancer genetics and cytogenetics | 1999 | PMID: 10686936 |
| Classification of IVS1-10T-->C as a polymorphism of BRCA1. | Fetzer S | Cancer genetics and cytogenetics | 1999 | PMID: 10459348 |
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Text-mined citations for rs80357786 ...
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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.