This variant deletes 2 nucleotides 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 identified in 1/250578 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.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.2405_2406del (p.Val802fs)
Germline
Classification
Help
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
(11)
Help
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Pathogenic
11
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.2405_2406del (p.Val802fs)
Variation ID: 54558 Accession: VCV000054558.23
- Type and length
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Microsatellite, 2 bp
- Location
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Cytogenetic: 17q21.31 17: 43093125-43093126 (GRCh38) [ NCBI UCSC ] 17: 41245142-41245143 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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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 Mar 28, 2015 May 1, 2024 Oct 16, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.2405_2406del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Val802fs frameshift NM_001407571.1:c.2192_2193del NP_001394500.1:p.Val731fs frameshift NM_001407581.1:c.2405_2406del NP_001394510.1:p.Val802fs frameshift NM_001407582.1:c.2405_2406del NP_001394511.1:p.Val802fs frameshift NM_001407583.1:c.2405_2406del NP_001394512.1:p.Val802fs frameshift NM_001407585.1:c.2405_2406del NP_001394514.1:p.Val802fs frameshift NM_001407587.1:c.2402_2403del NP_001394516.1:p.Val801fs frameshift NM_001407590.1:c.2402_2403del NP_001394519.1:p.Val801fs frameshift NM_001407591.1:c.2402_2403del NP_001394520.1:p.Val801fs frameshift NM_001407593.1:c.2405_2406del NP_001394522.1:p.Val802fs frameshift NM_001407594.1:c.2405_2406del NP_001394523.1:p.Val802fs frameshift NM_001407596.1:c.2405_2406del NP_001394525.1:p.Val802fs frameshift NM_001407597.1:c.2405_2406del NP_001394526.1:p.Val802fs frameshift NM_001407598.1:c.2405_2406del NP_001394527.1:p.Val802fs frameshift NM_001407602.1:c.2405_2406del NP_001394531.1:p.Val802fs frameshift NM_001407603.1:c.2405_2406del NP_001394532.1:p.Val802fs frameshift NM_001407605.1:c.2405_2406del NP_001394534.1:p.Val802fs frameshift NM_001407610.1:c.2402_2403del NP_001394539.1:p.Val801fs frameshift NM_001407611.1:c.2402_2403del NP_001394540.1:p.Val801fs frameshift NM_001407612.1:c.2402_2403del NP_001394541.1:p.Val801fs frameshift NM_001407613.1:c.2402_2403del NP_001394542.1:p.Val801fs frameshift NM_001407614.1:c.2402_2403del NP_001394543.1:p.Val801fs frameshift NM_001407615.1:c.2402_2403del NP_001394544.1:p.Val801fs frameshift NM_001407616.1:c.2405_2406del NP_001394545.1:p.Val802fs frameshift NM_001407617.1:c.2405_2406del NP_001394546.1:p.Val802fs frameshift NM_001407618.1:c.2405_2406del NP_001394547.1:p.Val802fs frameshift NM_001407619.1:c.2405_2406del NP_001394548.1:p.Val802fs frameshift NM_001407620.1:c.2405_2406del NP_001394549.1:p.Val802fs frameshift NM_001407621.1:c.2405_2406del NP_001394550.1:p.Val802fs frameshift NM_001407622.1:c.2405_2406del NP_001394551.1:p.Val802fs frameshift NM_001407623.1:c.2405_2406del NP_001394552.1:p.Val802fs frameshift NM_001407624.1:c.2405_2406del NP_001394553.1:p.Val802fs frameshift NM_001407625.1:c.2405_2406del NP_001394554.1:p.Val802fs frameshift NM_001407626.1:c.2405_2406del NP_001394555.1:p.Val802fs frameshift NM_001407627.1:c.2402_2403del NP_001394556.1:p.Val801fs frameshift NM_001407628.1:c.2402_2403del NP_001394557.1:p.Val801fs frameshift NM_001407629.1:c.2402_2403del NP_001394558.1:p.Val801fs frameshift NM_001407630.1:c.2402_2403del NP_001394559.1:p.Val801fs frameshift NM_001407631.1:c.2402_2403del NP_001394560.1:p.Val801fs frameshift NM_001407632.1:c.2402_2403del NP_001394561.1:p.Val801fs frameshift NM_001407633.1:c.2402_2403del NP_001394562.1:p.Val801fs frameshift NM_001407634.1:c.2402_2403del NP_001394563.1:p.Val801fs frameshift NM_001407635.1:c.2402_2403del NP_001394564.1:p.Val801fs frameshift NM_001407636.1:c.2402_2403del NP_001394565.1:p.Val801fs frameshift NM_001407637.1:c.2402_2403del NP_001394566.1:p.Val801fs frameshift NM_001407638.1:c.2402_2403del NP_001394567.1:p.Val801fs frameshift NM_001407639.1:c.2405_2406del NP_001394568.1:p.Val802fs frameshift NM_001407640.1:c.2405_2406del NP_001394569.1:p.Val802fs frameshift NM_001407641.1:c.2405_2406del NP_001394570.1:p.Val802fs frameshift NM_001407642.1:c.2405_2406del NP_001394571.1:p.Val802fs frameshift NM_001407644.1:c.2402_2403del NP_001394573.1:p.Val801fs frameshift NM_001407645.1:c.2402_2403del NP_001394574.1:p.Val801fs frameshift NM_001407646.1:c.2396_2397del NP_001394575.1:p.Val799fs frameshift NM_001407647.1:c.2396_2397del NP_001394576.1:p.Val799fs frameshift NM_001407648.1:c.2282_2283del NP_001394577.1:p.Val761fs frameshift NM_001407649.1:c.2279_2280del NP_001394578.1:p.Val760fs frameshift NM_001407652.1:c.2405_2406del NP_001394581.1:p.Val802fs frameshift NM_001407653.1:c.2327_2328del NP_001394582.1:p.Val776fs frameshift NM_001407654.1:c.2327_2328del NP_001394583.1:p.Val776fs frameshift NM_001407655.1:c.2327_2328del NP_001394584.1:p.Val776fs frameshift NM_001407656.1:c.2327_2328del NP_001394585.1:p.Val776fs frameshift NM_001407657.1:c.2327_2328del NP_001394586.1:p.Val776fs frameshift NM_001407658.1:c.2327_2328del NP_001394587.1:p.Val776fs frameshift NM_001407659.1:c.2324_2325del NP_001394588.1:p.Val775fs frameshift NM_001407660.1:c.2324_2325del NP_001394589.1:p.Val775fs frameshift NM_001407661.1:c.2324_2325del NP_001394590.1:p.Val775fs frameshift NM_001407662.1:c.2324_2325del NP_001394591.1:p.Val775fs frameshift NM_001407663.1:c.2327_2328del NP_001394592.1:p.Val776fs frameshift NM_001407664.1:c.2282_2283del NP_001394593.1:p.Val761fs frameshift NM_001407665.1:c.2282_2283del NP_001394594.1:p.Val761fs frameshift NM_001407666.1:c.2282_2283del NP_001394595.1:p.Val761fs frameshift NM_001407667.1:c.2282_2283del NP_001394596.1:p.Val761fs frameshift NM_001407668.1:c.2282_2283del NP_001394597.1:p.Val761fs frameshift NM_001407669.1:c.2282_2283del NP_001394598.1:p.Val761fs frameshift NM_001407670.1:c.2279_2280del NP_001394599.1:p.Val760fs frameshift NM_001407671.1:c.2279_2280del NP_001394600.1:p.Val760fs frameshift NM_001407672.1:c.2279_2280del NP_001394601.1:p.Val760fs frameshift NM_001407673.1:c.2279_2280del NP_001394602.1:p.Val760fs frameshift NM_001407674.1:c.2282_2283del NP_001394603.1:p.Val761fs frameshift NM_001407675.1:c.2282_2283del NP_001394604.1:p.Val761fs frameshift NM_001407676.1:c.2282_2283del NP_001394605.1:p.Val761fs frameshift NM_001407677.1:c.2282_2283del NP_001394606.1:p.Val761fs frameshift NM_001407678.1:c.2282_2283del NP_001394607.1:p.Val761fs frameshift NM_001407679.1:c.2282_2283del NP_001394608.1:p.Val761fs frameshift NM_001407680.1:c.2282_2283del NP_001394609.1:p.Val761fs frameshift NM_001407681.1:c.2282_2283del NP_001394610.1:p.Val761fs frameshift NM_001407682.1:c.2282_2283del NP_001394611.1:p.Val761fs frameshift NM_001407683.1:c.2282_2283del NP_001394612.1:p.Val761fs frameshift NM_001407684.1:c.2405_2406del NP_001394613.1:p.Val802fs frameshift NM_001407685.1:c.2279_2280del NP_001394614.1:p.Val760fs frameshift NM_001407686.1:c.2279_2280del NP_001394615.1:p.Val760fs frameshift NM_001407687.1:c.2279_2280del NP_001394616.1:p.Val760fs frameshift NM_001407688.1:c.2279_2280del NP_001394617.1:p.Val760fs frameshift NM_001407689.1:c.2279_2280del NP_001394618.1:p.Val760fs frameshift NM_001407690.1:c.2279_2280del NP_001394619.1:p.Val760fs frameshift NM_001407691.1:c.2279_2280del NP_001394620.1:p.Val760fs frameshift NM_001407692.1:c.2264_2265del NP_001394621.1:p.Val755fs frameshift NM_001407694.1:c.2264_2265del NP_001394623.1:p.Val755fs frameshift NM_001407695.1:c.2264_2265del NP_001394624.1:p.Val755fs frameshift NM_001407696.1:c.2264_2265del NP_001394625.1:p.Val755fs frameshift NM_001407697.1:c.2264_2265del NP_001394626.1:p.Val755fs frameshift NM_001407698.1:c.2264_2265del NP_001394627.1:p.Val755fs frameshift NM_001407724.1:c.2264_2265del NP_001394653.1:p.Val755fs frameshift NM_001407725.1:c.2264_2265del NP_001394654.1:p.Val755fs frameshift NM_001407726.1:c.2264_2265del NP_001394655.1:p.Val755fs frameshift NM_001407727.1:c.2264_2265del NP_001394656.1:p.Val755fs frameshift NM_001407728.1:c.2264_2265del NP_001394657.1:p.Val755fs frameshift NM_001407729.1:c.2264_2265del NP_001394658.1:p.Val755fs frameshift NM_001407730.1:c.2264_2265del NP_001394659.1:p.Val755fs frameshift NM_001407731.1:c.2264_2265del NP_001394660.1:p.Val755fs frameshift NM_001407732.1:c.2264_2265del NP_001394661.1:p.Val755fs frameshift NM_001407733.1:c.2264_2265del NP_001394662.1:p.Val755fs frameshift NM_001407734.1:c.2264_2265del NP_001394663.1:p.Val755fs frameshift NM_001407735.1:c.2264_2265del NP_001394664.1:p.Val755fs frameshift NM_001407736.1:c.2264_2265del NP_001394665.1:p.Val755fs frameshift NM_001407737.1:c.2264_2265del NP_001394666.1:p.Val755fs frameshift NM_001407738.1:c.2264_2265del NP_001394667.1:p.Val755fs frameshift NM_001407739.1:c.2264_2265del NP_001394668.1:p.Val755fs frameshift NM_001407740.1:c.2261_2262del NP_001394669.1:p.Val754fs frameshift NM_001407741.1:c.2261_2262del NP_001394670.1:p.Val754fs frameshift NM_001407742.1:c.2261_2262del NP_001394671.1:p.Val754fs frameshift NM_001407743.1:c.2261_2262del NP_001394672.1:p.Val754fs frameshift NM_001407744.1:c.2261_2262del NP_001394673.1:p.Val754fs frameshift NM_001407745.1:c.2261_2262del NP_001394674.1:p.Val754fs frameshift NM_001407746.1:c.2261_2262del NP_001394675.1:p.Val754fs frameshift NM_001407747.1:c.2261_2262del NP_001394676.1:p.Val754fs frameshift NM_001407748.1:c.2261_2262del NP_001394677.1:p.Val754fs frameshift NM_001407749.1:c.2261_2262del NP_001394678.1:p.Val754fs frameshift NM_001407750.1:c.2264_2265del NP_001394679.1:p.Val755fs frameshift NM_001407751.1:c.2264_2265del NP_001394680.1:p.Val755fs frameshift NM_001407752.1:c.2264_2265del NP_001394681.1:p.Val755fs frameshift NM_001407838.1:c.2261_2262del NP_001394767.1:p.Val754fs frameshift NM_001407839.1:c.2261_2262del NP_001394768.1:p.Val754fs frameshift NM_001407841.1:c.2261_2262del NP_001394770.1:p.Val754fs frameshift NM_001407842.1:c.2261_2262del NP_001394771.1:p.Val754fs frameshift NM_001407843.1:c.2261_2262del NP_001394772.1:p.Val754fs frameshift NM_001407844.1:c.2261_2262del NP_001394773.1:p.Val754fs frameshift NM_001407845.1:c.2261_2262del NP_001394774.1:p.Val754fs frameshift NM_001407846.1:c.2261_2262del NP_001394775.1:p.Val754fs frameshift NM_001407847.1:c.2261_2262del NP_001394776.1:p.Val754fs frameshift NM_001407848.1:c.2261_2262del NP_001394777.1:p.Val754fs frameshift NM_001407849.1:c.2261_2262del NP_001394778.1:p.Val754fs frameshift NM_001407850.1:c.2264_2265del NP_001394779.1:p.Val755fs frameshift NM_001407851.1:c.2264_2265del NP_001394780.1:p.Val755fs frameshift NM_001407852.1:c.2264_2265del NP_001394781.1:p.Val755fs frameshift NM_001407853.1:c.2192_2193del NP_001394782.1:p.Val731fs frameshift NM_001407854.1:c.2405_2406del NP_001394783.1:p.Val802fs frameshift NM_001407858.1:c.2405_2406del NP_001394787.1:p.Val802fs frameshift NM_001407859.1:c.2405_2406del NP_001394788.1:p.Val802fs frameshift NM_001407860.1:c.2402_2403del NP_001394789.1:p.Val801fs frameshift NM_001407861.1:c.2402_2403del NP_001394790.1:p.Val801fs frameshift NM_001407862.1:c.2204_2205del NP_001394791.1:p.Val735fs frameshift NM_001407863.1:c.2282_2283del NP_001394792.1:p.Val761fs frameshift NM_001407874.1:c.2201_2202del NP_001394803.1:p.Val734fs frameshift NM_001407875.1:c.2201_2202del NP_001394804.1:p.Val734fs frameshift NM_001407879.1:c.2195_2196del NP_001394808.1:p.Val732fs frameshift NM_001407881.1:c.2195_2196del NP_001394810.1:p.Val732fs frameshift NM_001407882.1:c.2195_2196del NP_001394811.1:p.Val732fs frameshift NM_001407884.1:c.2195_2196del NP_001394813.1:p.Val732fs frameshift NM_001407885.1:c.2195_2196del NP_001394814.1:p.Val732fs frameshift NM_001407886.1:c.2195_2196del NP_001394815.1:p.Val732fs frameshift NM_001407887.1:c.2195_2196del NP_001394816.1:p.Val732fs frameshift NM_001407889.1:c.2195_2196del NP_001394818.1:p.Val732fs frameshift NM_001407894.1:c.2192_2193del NP_001394823.1:p.Val731fs frameshift NM_001407895.1:c.2192_2193del NP_001394824.1:p.Val731fs frameshift NM_001407896.1:c.2192_2193del NP_001394825.1:p.Val731fs frameshift NM_001407897.1:c.2192_2193del NP_001394826.1:p.Val731fs frameshift NM_001407898.1:c.2192_2193del NP_001394827.1:p.Val731fs frameshift NM_001407899.1:c.2192_2193del NP_001394828.1:p.Val731fs frameshift NM_001407900.1:c.2195_2196del NP_001394829.1:p.Val732fs frameshift NM_001407902.1:c.2195_2196del NP_001394831.1:p.Val732fs frameshift NM_001407904.1:c.2195_2196del NP_001394833.1:p.Val732fs frameshift NM_001407906.1:c.2195_2196del NP_001394835.1:p.Val732fs frameshift NM_001407907.1:c.2195_2196del NP_001394836.1:p.Val732fs frameshift NM_001407908.1:c.2195_2196del NP_001394837.1:p.Val732fs frameshift NM_001407909.1:c.2195_2196del NP_001394838.1:p.Val732fs frameshift NM_001407910.1:c.2195_2196del NP_001394839.1:p.Val732fs frameshift NM_001407915.1:c.2192_2193del NP_001394844.1:p.Val731fs frameshift NM_001407916.1:c.2192_2193del NP_001394845.1:p.Val731fs frameshift NM_001407917.1:c.2192_2193del NP_001394846.1:p.Val731fs frameshift NM_001407918.1:c.2192_2193del NP_001394847.1:p.Val731fs frameshift NM_001407919.1:c.2282_2283del NP_001394848.1:p.Val761fs frameshift NM_001407920.1:c.2141_2142del NP_001394849.1:p.Val714fs frameshift NM_001407921.1:c.2141_2142del NP_001394850.1:p.Val714fs frameshift NM_001407922.1:c.2141_2142del NP_001394851.1:p.Val714fs frameshift NM_001407923.1:c.2141_2142del NP_001394852.1:p.Val714fs frameshift NM_001407924.1:c.2141_2142del NP_001394853.1:p.Val714fs frameshift NM_001407925.1:c.2141_2142del NP_001394854.1:p.Val714fs frameshift NM_001407926.1:c.2141_2142del NP_001394855.1:p.Val714fs frameshift NM_001407927.1:c.2141_2142del NP_001394856.1:p.Val714fs frameshift NM_001407928.1:c.2141_2142del NP_001394857.1:p.Val714fs frameshift NM_001407929.1:c.2141_2142del NP_001394858.1:p.Val714fs frameshift NM_001407930.1:c.2138_2139del NP_001394859.1:p.Val713fs frameshift NM_001407931.1:c.2138_2139del NP_001394860.1:p.Val713fs frameshift NM_001407932.1:c.2138_2139del NP_001394861.1:p.Val713fs frameshift NM_001407933.1:c.2141_2142del NP_001394862.1:p.Val714fs frameshift NM_001407934.1:c.2138_2139del NP_001394863.1:p.Val713fs frameshift NM_001407935.1:c.2141_2142del NP_001394864.1:p.Val714fs frameshift NM_001407936.1:c.2138_2139del NP_001394865.1:p.Val713fs frameshift NM_001407937.1:c.2282_2283del NP_001394866.1:p.Val761fs frameshift NM_001407938.1:c.2282_2283del NP_001394867.1:p.Val761fs frameshift NM_001407939.1:c.2282_2283del NP_001394868.1:p.Val761fs frameshift NM_001407940.1:c.2279_2280del NP_001394869.1:p.Val760fs frameshift NM_001407941.1:c.2279_2280del NP_001394870.1:p.Val760fs frameshift NM_001407942.1:c.2264_2265del NP_001394871.1:p.Val755fs frameshift NM_001407943.1:c.2261_2262del NP_001394872.1:p.Val754fs frameshift NM_001407944.1:c.2264_2265del NP_001394873.1:p.Val755fs frameshift NM_001407945.1:c.2264_2265del NP_001394874.1:p.Val755fs frameshift NM_001407946.1:c.2072_2073del NP_001394875.1:p.Val691fs frameshift NM_001407947.1:c.2072_2073del NP_001394876.1:p.Val691fs frameshift NM_001407948.1:c.2072_2073del NP_001394877.1:p.Val691fs frameshift NM_001407949.1:c.2072_2073del NP_001394878.1:p.Val691fs frameshift NM_001407950.1:c.2072_2073del NP_001394879.1:p.Val691fs frameshift NM_001407951.1:c.2072_2073del NP_001394880.1:p.Val691fs frameshift NM_001407952.1:c.2072_2073del NP_001394881.1:p.Val691fs frameshift NM_001407953.1:c.2072_2073del NP_001394882.1:p.Val691fs frameshift NM_001407954.1:c.2069_2070del NP_001394883.1:p.Val690fs frameshift NM_001407955.1:c.2069_2070del NP_001394884.1:p.Val690fs frameshift NM_001407956.1:c.2069_2070del NP_001394885.1:p.Val690fs frameshift NM_001407957.1:c.2072_2073del NP_001394886.1:p.Val691fs frameshift NM_001407958.1:c.2069_2070del NP_001394887.1:p.Val690fs frameshift NM_001407959.1:c.2024_2025del NP_001394888.1:p.Val675fs frameshift NM_001407960.1:c.2024_2025del NP_001394889.1:p.Val675fs frameshift NM_001407962.1:c.2021_2022del NP_001394891.1:p.Val674fs frameshift NM_001407963.1:c.2024_2025del NP_001394892.1:p.Val675fs frameshift NM_001407964.1:c.2261_2262del NP_001394893.1:p.Val754fs frameshift NM_001407965.1:c.1901_1902del NP_001394894.1:p.Val634fs frameshift NM_001407966.1:c.1517_1518del NP_001394895.1:p.Val506fs frameshift NM_001407967.1:c.1517_1518del NP_001394896.1:p.Val506fs frameshift NM_001407968.1:c.788-991TG[2] intron variant NM_001407969.1:c.788-991TG[2] intron variant NM_001407970.1:c.787+1614TG[2] intron variant NM_001407971.1:c.787+1614TG[2] intron variant NM_001407972.1:c.784+1614TG[2] intron variant NM_001407973.1:c.787+1614TG[2] intron variant NM_001407974.1:c.787+1614TG[2] intron variant NM_001407975.1:c.787+1614TG[2] intron variant NM_001407976.1:c.787+1614TG[2] intron variant NM_001407977.1:c.787+1614TG[2] intron variant NM_001407978.1:c.787+1614TG[2] intron variant NM_001407979.1:c.787+1614TG[2] intron variant NM_001407980.1:c.787+1614TG[2] intron variant NM_001407981.1:c.787+1614TG[2] intron variant NM_001407982.1:c.787+1614TG[2] intron variant NM_001407983.1:c.787+1614TG[2] intron variant NM_001407984.1:c.784+1614TG[2] intron variant NM_001407985.1:c.784+1614TG[2] intron variant NM_001407986.1:c.784+1614TG[2] intron variant NM_001407990.1:c.787+1614TG[2] intron variant NM_001407991.1:c.784+1614TG[2] intron variant NM_001407992.1:c.784+1614TG[2] intron variant NM_001407993.1:c.787+1614TG[2] intron variant NM_001408392.1:c.784+1614TG[2] intron variant NM_001408396.1:c.784+1614TG[2] intron variant NM_001408397.1:c.784+1614TG[2] intron variant NM_001408398.1:c.784+1614TG[2] intron variant NM_001408399.1:c.784+1614TG[2] intron variant NM_001408400.1:c.784+1614TG[2] intron variant NM_001408401.1:c.784+1614TG[2] intron variant NM_001408402.1:c.784+1614TG[2] intron variant NM_001408403.1:c.787+1614TG[2] intron variant NM_001408404.1:c.787+1614TG[2] intron variant NM_001408406.1:c.790+1611TG[2] intron variant NM_001408407.1:c.784+1614TG[2] intron variant NM_001408408.1:c.778+1614TG[2] intron variant NM_001408409.1:c.709+1614TG[2] intron variant NM_001408410.1:c.646+1614TG[2] intron variant NM_001408411.1:c.709+1614TG[2] intron variant NM_001408412.1:c.709+1614TG[2] intron variant NM_001408413.1:c.706+1614TG[2] intron variant NM_001408414.1:c.709+1614TG[2] intron variant NM_001408415.1:c.709+1614TG[2] intron variant NM_001408416.1:c.706+1614TG[2] intron variant NM_001408418.1:c.671-2098TG[2] intron variant NM_001408419.1:c.671-2098TG[2] intron variant NM_001408420.1:c.671-2098TG[2] intron variant NM_001408421.1:c.668-2098TG[2] intron variant NM_001408422.1:c.671-2098TG[2] intron variant NM_001408423.1:c.671-2098TG[2] intron variant NM_001408424.1:c.668-2098TG[2] intron variant NM_001408425.1:c.664+1614TG[2] intron variant NM_001408426.1:c.664+1614TG[2] intron variant NM_001408427.1:c.664+1614TG[2] intron variant NM_001408428.1:c.664+1614TG[2] intron variant NM_001408429.1:c.664+1614TG[2] intron variant NM_001408430.1:c.664+1614TG[2] intron variant NM_001408431.1:c.668-2098TG[2] intron variant NM_001408432.1:c.661+1614TG[2] intron variant NM_001408433.1:c.661+1614TG[2] intron variant NM_001408434.1:c.661+1614TG[2] intron variant NM_001408435.1:c.661+1614TG[2] intron variant NM_001408436.1:c.664+1614TG[2] intron variant NM_001408437.1:c.664+1614TG[2] intron variant NM_001408438.1:c.664+1614TG[2] intron variant NM_001408439.1:c.664+1614TG[2] intron variant NM_001408440.1:c.664+1614TG[2] intron variant NM_001408441.1:c.664+1614TG[2] intron variant NM_001408442.1:c.664+1614TG[2] intron variant NM_001408443.1:c.664+1614TG[2] intron variant NM_001408444.1:c.664+1614TG[2] intron variant NM_001408445.1:c.661+1614TG[2] intron variant NM_001408446.1:c.661+1614TG[2] intron variant NM_001408447.1:c.661+1614TG[2] intron variant NM_001408448.1:c.661+1614TG[2] intron variant NM_001408450.1:c.661+1614TG[2] intron variant NM_001408451.1:c.652+1614TG[2] intron variant NM_001408452.1:c.646+1614TG[2] intron variant NM_001408453.1:c.646+1614TG[2] intron variant NM_001408454.1:c.646+1614TG[2] intron variant NM_001408455.1:c.646+1614TG[2] intron variant NM_001408456.1:c.646+1614TG[2] intron variant NM_001408457.1:c.646+1614TG[2] intron variant NM_001408458.1:c.646+1614TG[2] intron variant NM_001408459.1:c.646+1614TG[2] intron variant NM_001408460.1:c.646+1614TG[2] intron variant NM_001408461.1:c.646+1614TG[2] intron variant NM_001408462.1:c.643+1614TG[2] intron variant NM_001408463.1:c.643+1614TG[2] intron variant NM_001408464.1:c.643+1614TG[2] intron variant NM_001408465.1:c.643+1614TG[2] intron variant NM_001408466.1:c.646+1614TG[2] intron variant NM_001408467.1:c.646+1614TG[2] intron variant NM_001408468.1:c.643+1614TG[2] intron variant NM_001408469.1:c.646+1614TG[2] intron variant NM_001408470.1:c.643+1614TG[2] intron variant NM_001408472.1:c.787+1614TG[2] intron variant NM_001408473.1:c.784+1614TG[2] intron variant NM_001408474.1:c.586+1614TG[2] intron variant NM_001408475.1:c.583+1614TG[2] intron variant NM_001408476.1:c.586+1614TG[2] intron variant NM_001408478.1:c.577+1614TG[2] intron variant NM_001408479.1:c.577+1614TG[2] intron variant NM_001408480.1:c.577+1614TG[2] intron variant NM_001408481.1:c.577+1614TG[2] intron variant NM_001408482.1:c.577+1614TG[2] intron variant NM_001408483.1:c.577+1614TG[2] intron variant NM_001408484.1:c.577+1614TG[2] intron variant NM_001408485.1:c.577+1614TG[2] intron variant NM_001408489.1:c.577+1614TG[2] intron variant NM_001408490.1:c.574+1614TG[2] intron variant NM_001408491.1:c.574+1614TG[2] intron variant NM_001408492.1:c.577+1614TG[2] intron variant NM_001408493.1:c.574+1614TG[2] intron variant NM_001408494.1:c.548-2098TG[2] intron variant NM_001408495.1:c.545-2098TG[2] intron variant NM_001408496.1:c.523+1614TG[2] intron variant NM_001408497.1:c.523+1614TG[2] intron variant NM_001408498.1:c.523+1614TG[2] intron variant NM_001408499.1:c.523+1614TG[2] intron variant NM_001408500.1:c.523+1614TG[2] intron variant NM_001408501.1:c.523+1614TG[2] intron variant NM_001408502.1:c.454+1614TG[2] intron variant NM_001408503.1:c.520+1614TG[2] intron variant NM_001408504.1:c.520+1614TG[2] intron variant NM_001408505.1:c.520+1614TG[2] intron variant NM_001408506.1:c.461-2098TG[2] intron variant NM_001408507.1:c.461-2098TG[2] intron variant NM_001408508.1:c.451+1614TG[2] intron variant NM_001408509.1:c.451+1614TG[2] intron variant NM_001408510.1:c.406+1614TG[2] intron variant NM_001408511.1:c.404-2098TG[2] intron variant NM_001408512.1:c.283+1614TG[2] intron variant NM_001408513.1:c.577+1614TG[2] intron variant NM_001408514.1:c.577+1614TG[2] intron variant NM_007294.3:c.2405_2406delTG frameshift NM_007297.4:c.2264_2265del NP_009228.2:p.Val755fs frameshift NM_007298.4:c.787+1614TG[2] intron variant NM_007299.4:c.787+1614TG[2] intron variant NM_007300.4:c.2405_2406del NP_009231.2:p.Val802fs frameshift NR_027676.1:n.2537_2538TG[2] NC_000017.11:g.43093125CA[2] NC_000017.10:g.41245142CA[2] NG_005905.2:g.124854TG[2] LRG_292:g.124854TG[2] LRG_292t1:c.2401_2402TG[2] LRG_292p1:p.Val802Glufs U14680.1:n.2524_2525delTG - Protein change
- V802fs, V755fs, V675fs, V690fs, V691fs, V731fs, V735fs, V776fs, V674fs, V713fs, V734fs, V775fs, V801fs, V714fs, V754fs, V760fs, V761fs, V799fs, V506fs, V634fs, V732fs
- Other names
-
2524delTG
2520delTG
- Canonical SPDI
- NC_000017.11:43093124:CACACA:CACA
-
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.
- -
- 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 (4) |
criteria provided, multiple submitters, no conflicts
|
Oct 2, 2015 | RCV000111844.16 | |
| Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Feb 22, 2022 | RCV000162857.16 | |
| Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
|
Oct 16, 2023 | RCV000496253.19 | |
| Pathogenic (1) |
criteria provided, single submitter
|
- | RCV000412819.9 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Jun 1, 2023 | RCV000497270.10 |
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
(-)
|
criteria provided, single submitter
Method: research
|
Breast Cancer
Affected status: yes
Allele origin:
germline
|
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center
Accession: SCV000492473.1
First in ClinVar: Jan 09, 2017 Last updated: Jan 09, 2017 |
|
|
|
Pathogenic
(Sep 21, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000744658.1 First in ClinVar: Apr 19, 2018 Last updated: Apr 19, 2018 |
|
|
|
Pathogenic
(Jan 15, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000683032.3
First in ClinVar: Feb 19, 2018 Last updated: Jan 15, 2022 |
Comment:
This variant deletes 2 nucleotides in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to … (more)
This variant deletes 2 nucleotides 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 identified in 1/250578 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
(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: SCV000325345.4
First in ClinVar: Mar 28, 2015 Last updated: Dec 11, 2022 |
|
|
|
Pathogenic
(Jul 02, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast and ovarian cancer syndrome
Affected status: unknown
Allele origin:
unknown
|
Mendelics
Accession: SCV000839269.2
First in ClinVar: Oct 10, 2018 Last updated: Dec 11, 2022 |
|
|
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Pathogenic
(Jun 01, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000210022.6
First in ClinVar: Feb 24, 2015 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; Identified in individuals with personal or family history of breast or ovarian cancer (Risch et al., 2001; Liede et al., 2002; Carraro et al., 2013; Azzolini et al., 2016; Brianese et al., 2017; Jara et al., 2017; Rashid et al., 2019; Siraj et al., 2019; Hur et al., 2020; Santonocito et al., 2020; Guindalini et al., 2022); Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 2524delTG; This variant is associated with the following publications: (PMID: 24884479, 32058061, 20373018, 23469205, 11179017, 27553291, 27062684, 18821011, 12181777, 27836010, 29116469, 25007954, 28985766, 29346284, 27741520, 30720243, 29907814, 11597388, 29922827, 34645131, 35377489, 30825404, 31528241, 32455662, 32438681, 35264596) (less)
|
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Pathogenic
(Oct 16, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001383223.5
First in ClinVar: Jul 16, 2020 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Val802Glufs*7) 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.Val802Glufs*7) 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 (rs80357706, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 11179017, 20373018, 23469205, 27062684, 29907814). This variant is also known as c.2524delTG. ClinVar contains an entry for this variant (Variation ID: 54558). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Feb 22, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000213344.7
First in ClinVar: Mar 24, 2015 Last updated: May 01, 2024 |
Comment:
The c.2405_2406delTG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 2405 to … (more)
The c.2405_2406delTG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 2405 to 2406, causing a translational frameshift with a predicted alternate stop codon (p.V802Efs*7). This alteration has been reported in multiple individuals that meet criteria for hereditary breast and ovarian cancer (HBOC) syndrome (Risch HA et al. Am. J. Hum. Genet. 2001 Mar;68:700-10; Papi L et al. Breast Cancer Res. Treat. 2009 Oct;117:497-504; Carraro DM et al. PLoS ONE. 2013 Mar;8:e57581; Azzollini J et al. Eur. J. Intern. Med. 2016 Jul;32:65-71; Rashid MU et al. BMC Cancer. 2016 08;16:673; Siraj AK et al. Hum Mutat, 2019 06;40:729-733; Santonocito C et al. Cancers (Basel), 2020 May;12:; Vietri MT et al. Eur J Med Genet, 2020 Jun;63:103883). Of note, this alteration is also designated as 2524delTG and c.2401_2402delTG 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)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline,
unknown
|
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144409.2
First in ClinVar: Apr 01, 2014 Last updated: Mar 28, 2015 |
Observation 1:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: Netherlands
Observation 2:
Number of individuals with the variant: 1
Ethnicity/Population group: Czech, German
Observation 3:
Number of individuals with the variant: 1
Ethnicity/Population group: Pakistani
Observation 4:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European
Observation 5:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: American
|
|
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Pathogenic
(Jan 31, 2014)
|
no assertion criteria provided
Method: research
|
Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587211.1 First in ClinVar: Aug 07, 2017 Last updated: Aug 07, 2017 |
|
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Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000733642.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
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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; Identified in individuals with personal or family history of breast or ovarian cancer (Risch et al., 2001; Liede et al., 2002; Carraro et al., 2013; Azzolini et al., 2016; Brianese et al., 2017; Jara et al., 2017; Rashid et al., 2019; Siraj et al., 2019; Hur et al., 2020; Santonocito et al., 2020; Guindalini et al., 2022); Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 2524delTG; This variant is associated with the following publications: (PMID: 24884479, 32058061, 20373018, 23469205, 11179017, 27553291, 27062684, 18821011, 12181777, 27836010, 29116469, 25007954, 28985766, 29346284, 27741520, 30720243, 29907814, 11597388, 29922827, 34645131, 35377489, 30825404, 31528241, 32455662, 32438681, 35264596)
Comment:
This sequence change creates a premature translational stop signal (p.Val802Glufs*7) 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 (rs80357706, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 11179017, 20373018, 23469205, 27062684, 29907814). This variant is also known as c.2524delTG. ClinVar contains an entry for this variant (Variation ID: 54558). For these reasons, this variant has been classified as Pathogenic.
Comment:
The c.2405_2406delTG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 2405 to 2406, causing a translational frameshift with a predicted alternate stop codon (p.V802Efs*7). This alteration has been reported in multiple individuals that meet criteria for hereditary breast and ovarian cancer (HBOC) syndrome (Risch HA et al. Am. J. Hum. Genet. 2001 Mar;68:700-10; Papi L et al. Breast Cancer Res. Treat. 2009 Oct;117:497-504; Carraro DM et al. PLoS ONE. 2013 Mar;8:e57581; Azzollini J et al. Eur. J. Intern. Med. 2016 Jul;32:65-71; Rashid MU et al. BMC Cancer. 2016 08;16:673; Siraj AK et al. Hum Mutat, 2019 06;40:729-733; Santonocito C et al. Cancers (Basel), 2020 May;12:; Vietri MT et al. Eur J Med Genet, 2020 Jun;63:103883). Of note, this alteration is also designated as 2524delTG and c.2401_2402delTG 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.
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:
This variant deletes 2 nucleotides 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 identified in 1/250578 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:
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; Identified in individuals with personal or family history of breast or ovarian cancer (Risch et al., 2001; Liede et al., 2002; Carraro et al., 2013; Azzolini et al., 2016; Brianese et al., 2017; Jara et al., 2017; Rashid et al., 2019; Siraj et al., 2019; Hur et al., 2020; Santonocito et al., 2020; Guindalini et al., 2022); Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 2524delTG; This variant is associated with the following publications: (PMID: 24884479, 32058061, 20373018, 23469205, 11179017, 27553291, 27062684, 18821011, 12181777, 27836010, 29116469, 25007954, 28985766, 29346284, 27741520, 30720243, 29907814, 11597388, 29922827, 34645131, 35377489, 30825404, 31528241, 32455662, 32438681, 35264596)
Comment:
This sequence change creates a premature translational stop signal (p.Val802Glufs*7) 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 (rs80357706, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 11179017, 20373018, 23469205, 27062684, 29907814). This variant is also known as c.2524delTG. ClinVar contains an entry for this variant (Variation ID: 54558). For these reasons, this variant has been classified as Pathogenic.
Comment:
The c.2405_2406delTG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 2405 to 2406, causing a translational frameshift with a predicted alternate stop codon (p.V802Efs*7). This alteration has been reported in multiple individuals that meet criteria for hereditary breast and ovarian cancer (HBOC) syndrome (Risch HA et al. Am. J. Hum. Genet. 2001 Mar;68:700-10; Papi L et al. Breast Cancer Res. Treat. 2009 Oct;117:497-504; Carraro DM et al. PLoS ONE. 2013 Mar;8:e57581; Azzollini J et al. Eur. J. Intern. Med. 2016 Jul;32:65-71; Rashid MU et al. BMC Cancer. 2016 08;16:673; Siraj AK et al. Hum Mutat, 2019 06;40:729-733; Santonocito C et al. Cancers (Basel), 2020 May;12:; Vietri MT et al. Eur J Med Genet, 2020 Jun;63:103883). Of note, this alteration is also designated as 2524delTG and c.2401_2402delTG 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.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome. | Santonocito C | Cancers | 2020 | PMID: 32438681 |
| BRCA and PALB2 mutations in a cohort of male breast cancer with one bilateral case. | Vietri MT | European journal of medical genetics | 2020 | PMID: 32058061 |
| Prevalence, spectrum, and founder effect of BRCA1 and BRCA2 mutations in epithelial ovarian cancer from the Middle East. | Siraj AK | Human mutation | 2019 | PMID: 30825404 |
| The germline mutational landscape of BRCA1 and BRCA2 in Brazil. | Palmero EI | Scientific reports | 2018 | PMID: 29907814 |
| High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients. | Rashid MU | BMC cancer | 2016 | PMID: 27553291 |
| Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study. | Azzollini J | European journal of internal medicine | 2016 | PMID: 27062684 |
| Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil. | Carraro DM | PloS one | 2013 | PMID: 23469205 |
| Four new cases of double heterozygosity for BRCA1 and BRCA2 gene mutations: clinical, pathological, and family characteristics. | Zuradelli M | Breast cancer research and treatment | 2010 | PMID: 20373018 |
| 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 |
| Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy. | Papi L | Breast cancer research and treatment | 2009 | PMID: 18821011 |
| Relation of contraceptive and reproductive history to ovarian cancer risk in carriers and noncarriers of BRCA1 gene mutations. | McGuire V | American journal of epidemiology | 2004 | PMID: 15383404 |
| Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. | Risch HA | American journal of human genetics | 2001 | PMID: 11179017 |
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Text-mined citations for rs80357706 ...
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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.