ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp)
Variation ID: 37537 Accession: VCV000037537.36
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43091874 (GRCh38) [ NCBI UCSC ] 17: 41243891 (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 Apr 1, 2014 May 1, 2024 Jun 18, 2019 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.3657G>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Glu1219Asp missense NM_001407571.1:c.3444G>C NP_001394500.1:p.Glu1148Asp missense NM_001407581.1:c.3657G>C NP_001394510.1:p.Glu1219Asp missense NM_001407582.1:c.3657G>C NP_001394511.1:p.Glu1219Asp missense NM_001407583.1:c.3657G>C NP_001394512.1:p.Glu1219Asp missense NM_001407585.1:c.3657G>C NP_001394514.1:p.Glu1219Asp missense NM_001407587.1:c.3654G>C NP_001394516.1:p.Glu1218Asp missense NM_001407590.1:c.3654G>C NP_001394519.1:p.Glu1218Asp missense NM_001407591.1:c.3654G>C NP_001394520.1:p.Glu1218Asp missense NM_001407593.1:c.3657G>C NP_001394522.1:p.Glu1219Asp missense NM_001407594.1:c.3657G>C NP_001394523.1:p.Glu1219Asp missense NM_001407596.1:c.3657G>C NP_001394525.1:p.Glu1219Asp missense NM_001407597.1:c.3657G>C NP_001394526.1:p.Glu1219Asp missense NM_001407598.1:c.3657G>C NP_001394527.1:p.Glu1219Asp missense NM_001407602.1:c.3657G>C NP_001394531.1:p.Glu1219Asp missense NM_001407603.1:c.3657G>C NP_001394532.1:p.Glu1219Asp missense NM_001407605.1:c.3657G>C NP_001394534.1:p.Glu1219Asp missense NM_001407610.1:c.3654G>C NP_001394539.1:p.Glu1218Asp missense NM_001407611.1:c.3654G>C NP_001394540.1:p.Glu1218Asp missense NM_001407612.1:c.3654G>C NP_001394541.1:p.Glu1218Asp missense NM_001407613.1:c.3654G>C NP_001394542.1:p.Glu1218Asp missense NM_001407614.1:c.3654G>C NP_001394543.1:p.Glu1218Asp missense NM_001407615.1:c.3654G>C NP_001394544.1:p.Glu1218Asp missense NM_001407616.1:c.3657G>C NP_001394545.1:p.Glu1219Asp missense NM_001407617.1:c.3657G>C NP_001394546.1:p.Glu1219Asp missense NM_001407618.1:c.3657G>C NP_001394547.1:p.Glu1219Asp missense NM_001407619.1:c.3657G>C NP_001394548.1:p.Glu1219Asp missense NM_001407620.1:c.3657G>C NP_001394549.1:p.Glu1219Asp missense NM_001407621.1:c.3657G>C NP_001394550.1:p.Glu1219Asp missense NM_001407622.1:c.3657G>C NP_001394551.1:p.Glu1219Asp missense NM_001407623.1:c.3657G>C NP_001394552.1:p.Glu1219Asp missense NM_001407624.1:c.3657G>C NP_001394553.1:p.Glu1219Asp missense NM_001407625.1:c.3657G>C NP_001394554.1:p.Glu1219Asp missense NM_001407626.1:c.3657G>C NP_001394555.1:p.Glu1219Asp missense NM_001407627.1:c.3654G>C NP_001394556.1:p.Glu1218Asp missense NM_001407628.1:c.3654G>C NP_001394557.1:p.Glu1218Asp missense NM_001407629.1:c.3654G>C NP_001394558.1:p.Glu1218Asp missense NM_001407630.1:c.3654G>C NP_001394559.1:p.Glu1218Asp missense NM_001407631.1:c.3654G>C NP_001394560.1:p.Glu1218Asp missense NM_001407632.1:c.3654G>C NP_001394561.1:p.Glu1218Asp missense NM_001407633.1:c.3654G>C NP_001394562.1:p.Glu1218Asp missense NM_001407634.1:c.3654G>C NP_001394563.1:p.Glu1218Asp missense NM_001407635.1:c.3654G>C NP_001394564.1:p.Glu1218Asp missense NM_001407636.1:c.3654G>C NP_001394565.1:p.Glu1218Asp missense NM_001407637.1:c.3654G>C NP_001394566.1:p.Glu1218Asp missense NM_001407638.1:c.3654G>C NP_001394567.1:p.Glu1218Asp missense NM_001407639.1:c.3657G>C NP_001394568.1:p.Glu1219Asp missense NM_001407640.1:c.3657G>C NP_001394569.1:p.Glu1219Asp missense NM_001407641.1:c.3657G>C NP_001394570.1:p.Glu1219Asp missense NM_001407642.1:c.3657G>C NP_001394571.1:p.Glu1219Asp missense NM_001407644.1:c.3654G>C NP_001394573.1:p.Glu1218Asp missense NM_001407645.1:c.3654G>C NP_001394574.1:p.Glu1218Asp missense NM_001407646.1:c.3648G>C NP_001394575.1:p.Glu1216Asp missense NM_001407647.1:c.3648G>C NP_001394576.1:p.Glu1216Asp missense NM_001407648.1:c.3534G>C NP_001394577.1:p.Glu1178Asp missense NM_001407649.1:c.3531G>C NP_001394578.1:p.Glu1177Asp missense NM_001407652.1:c.3657G>C NP_001394581.1:p.Glu1219Asp missense NM_001407653.1:c.3579G>C NP_001394582.1:p.Glu1193Asp missense NM_001407654.1:c.3579G>C NP_001394583.1:p.Glu1193Asp missense NM_001407655.1:c.3579G>C NP_001394584.1:p.Glu1193Asp missense NM_001407656.1:c.3579G>C NP_001394585.1:p.Glu1193Asp missense NM_001407657.1:c.3579G>C NP_001394586.1:p.Glu1193Asp missense NM_001407658.1:c.3579G>C NP_001394587.1:p.Glu1193Asp missense NM_001407659.1:c.3576G>C NP_001394588.1:p.Glu1192Asp missense NM_001407660.1:c.3576G>C NP_001394589.1:p.Glu1192Asp missense NM_001407661.1:c.3576G>C NP_001394590.1:p.Glu1192Asp missense NM_001407662.1:c.3576G>C NP_001394591.1:p.Glu1192Asp missense NM_001407663.1:c.3579G>C NP_001394592.1:p.Glu1193Asp missense NM_001407664.1:c.3534G>C NP_001394593.1:p.Glu1178Asp missense NM_001407665.1:c.3534G>C NP_001394594.1:p.Glu1178Asp missense NM_001407666.1:c.3534G>C NP_001394595.1:p.Glu1178Asp missense NM_001407667.1:c.3534G>C NP_001394596.1:p.Glu1178Asp missense NM_001407668.1:c.3534G>C NP_001394597.1:p.Glu1178Asp missense NM_001407669.1:c.3534G>C NP_001394598.1:p.Glu1178Asp missense NM_001407670.1:c.3531G>C NP_001394599.1:p.Glu1177Asp missense NM_001407671.1:c.3531G>C NP_001394600.1:p.Glu1177Asp missense NM_001407672.1:c.3531G>C NP_001394601.1:p.Glu1177Asp missense NM_001407673.1:c.3531G>C NP_001394602.1:p.Glu1177Asp missense NM_001407674.1:c.3534G>C NP_001394603.1:p.Glu1178Asp missense NM_001407675.1:c.3534G>C NP_001394604.1:p.Glu1178Asp missense NM_001407676.1:c.3534G>C NP_001394605.1:p.Glu1178Asp missense NM_001407677.1:c.3534G>C NP_001394606.1:p.Glu1178Asp missense NM_001407678.1:c.3534G>C NP_001394607.1:p.Glu1178Asp missense NM_001407679.1:c.3534G>C NP_001394608.1:p.Glu1178Asp missense NM_001407680.1:c.3534G>C NP_001394609.1:p.Glu1178Asp missense NM_001407681.1:c.3534G>C NP_001394610.1:p.Glu1178Asp missense NM_001407682.1:c.3534G>C NP_001394611.1:p.Glu1178Asp missense NM_001407683.1:c.3534G>C NP_001394612.1:p.Glu1178Asp missense NM_001407684.1:c.3657G>C NP_001394613.1:p.Glu1219Asp missense NM_001407685.1:c.3531G>C NP_001394614.1:p.Glu1177Asp missense NM_001407686.1:c.3531G>C NP_001394615.1:p.Glu1177Asp missense NM_001407687.1:c.3531G>C NP_001394616.1:p.Glu1177Asp missense NM_001407688.1:c.3531G>C NP_001394617.1:p.Glu1177Asp missense NM_001407689.1:c.3531G>C NP_001394618.1:p.Glu1177Asp missense NM_001407690.1:c.3531G>C NP_001394619.1:p.Glu1177Asp missense NM_001407691.1:c.3531G>C NP_001394620.1:p.Glu1177Asp missense NM_001407692.1:c.3516G>C NP_001394621.1:p.Glu1172Asp missense NM_001407694.1:c.3516G>C NP_001394623.1:p.Glu1172Asp missense NM_001407695.1:c.3516G>C NP_001394624.1:p.Glu1172Asp missense NM_001407696.1:c.3516G>C NP_001394625.1:p.Glu1172Asp missense NM_001407697.1:c.3516G>C NP_001394626.1:p.Glu1172Asp missense NM_001407698.1:c.3516G>C NP_001394627.1:p.Glu1172Asp missense NM_001407724.1:c.3516G>C NP_001394653.1:p.Glu1172Asp missense NM_001407725.1:c.3516G>C NP_001394654.1:p.Glu1172Asp missense NM_001407726.1:c.3516G>C NP_001394655.1:p.Glu1172Asp missense NM_001407727.1:c.3516G>C NP_001394656.1:p.Glu1172Asp missense NM_001407728.1:c.3516G>C NP_001394657.1:p.Glu1172Asp missense NM_001407729.1:c.3516G>C NP_001394658.1:p.Glu1172Asp missense NM_001407730.1:c.3516G>C NP_001394659.1:p.Glu1172Asp missense NM_001407731.1:c.3516G>C NP_001394660.1:p.Glu1172Asp missense NM_001407732.1:c.3516G>C NP_001394661.1:p.Glu1172Asp missense NM_001407733.1:c.3516G>C NP_001394662.1:p.Glu1172Asp missense NM_001407734.1:c.3516G>C NP_001394663.1:p.Glu1172Asp missense NM_001407735.1:c.3516G>C NP_001394664.1:p.Glu1172Asp missense NM_001407736.1:c.3516G>C NP_001394665.1:p.Glu1172Asp missense NM_001407737.1:c.3516G>C NP_001394666.1:p.Glu1172Asp missense NM_001407738.1:c.3516G>C NP_001394667.1:p.Glu1172Asp missense NM_001407739.1:c.3516G>C NP_001394668.1:p.Glu1172Asp missense NM_001407740.1:c.3513G>C NP_001394669.1:p.Glu1171Asp missense NM_001407741.1:c.3513G>C NP_001394670.1:p.Glu1171Asp missense NM_001407742.1:c.3513G>C NP_001394671.1:p.Glu1171Asp missense NM_001407743.1:c.3513G>C NP_001394672.1:p.Glu1171Asp missense NM_001407744.1:c.3513G>C NP_001394673.1:p.Glu1171Asp missense NM_001407745.1:c.3513G>C NP_001394674.1:p.Glu1171Asp missense NM_001407746.1:c.3513G>C NP_001394675.1:p.Glu1171Asp missense NM_001407747.1:c.3513G>C NP_001394676.1:p.Glu1171Asp missense NM_001407748.1:c.3513G>C NP_001394677.1:p.Glu1171Asp missense NM_001407749.1:c.3513G>C NP_001394678.1:p.Glu1171Asp missense NM_001407750.1:c.3516G>C NP_001394679.1:p.Glu1172Asp missense NM_001407751.1:c.3516G>C NP_001394680.1:p.Glu1172Asp missense NM_001407752.1:c.3516G>C NP_001394681.1:p.Glu1172Asp missense NM_001407838.1:c.3513G>C NP_001394767.1:p.Glu1171Asp missense NM_001407839.1:c.3513G>C NP_001394768.1:p.Glu1171Asp missense NM_001407841.1:c.3513G>C NP_001394770.1:p.Glu1171Asp missense NM_001407842.1:c.3513G>C NP_001394771.1:p.Glu1171Asp missense NM_001407843.1:c.3513G>C NP_001394772.1:p.Glu1171Asp missense NM_001407844.1:c.3513G>C NP_001394773.1:p.Glu1171Asp missense NM_001407845.1:c.3513G>C NP_001394774.1:p.Glu1171Asp missense NM_001407846.1:c.3513G>C NP_001394775.1:p.Glu1171Asp missense NM_001407847.1:c.3513G>C NP_001394776.1:p.Glu1171Asp missense NM_001407848.1:c.3513G>C NP_001394777.1:p.Glu1171Asp missense NM_001407849.1:c.3513G>C NP_001394778.1:p.Glu1171Asp missense NM_001407850.1:c.3516G>C NP_001394779.1:p.Glu1172Asp missense NM_001407851.1:c.3516G>C NP_001394780.1:p.Glu1172Asp missense NM_001407852.1:c.3516G>C NP_001394781.1:p.Glu1172Asp missense NM_001407853.1:c.3444G>C NP_001394782.1:p.Glu1148Asp missense NM_001407854.1:c.3657G>C NP_001394783.1:p.Glu1219Asp missense NM_001407858.1:c.3657G>C NP_001394787.1:p.Glu1219Asp missense NM_001407859.1:c.3657G>C NP_001394788.1:p.Glu1219Asp missense NM_001407860.1:c.3654G>C NP_001394789.1:p.Glu1218Asp missense NM_001407861.1:c.3654G>C NP_001394790.1:p.Glu1218Asp missense NM_001407862.1:c.3456G>C NP_001394791.1:p.Glu1152Asp missense NM_001407863.1:c.3534G>C NP_001394792.1:p.Glu1178Asp missense NM_001407874.1:c.3453G>C NP_001394803.1:p.Glu1151Asp missense NM_001407875.1:c.3453G>C NP_001394804.1:p.Glu1151Asp missense NM_001407879.1:c.3447G>C NP_001394808.1:p.Glu1149Asp missense NM_001407881.1:c.3447G>C NP_001394810.1:p.Glu1149Asp missense NM_001407882.1:c.3447G>C NP_001394811.1:p.Glu1149Asp missense NM_001407884.1:c.3447G>C NP_001394813.1:p.Glu1149Asp missense NM_001407885.1:c.3447G>C NP_001394814.1:p.Glu1149Asp missense NM_001407886.1:c.3447G>C NP_001394815.1:p.Glu1149Asp missense NM_001407887.1:c.3447G>C NP_001394816.1:p.Glu1149Asp missense NM_001407889.1:c.3447G>C NP_001394818.1:p.Glu1149Asp missense NM_001407894.1:c.3444G>C NP_001394823.1:p.Glu1148Asp missense NM_001407895.1:c.3444G>C NP_001394824.1:p.Glu1148Asp missense NM_001407896.1:c.3444G>C NP_001394825.1:p.Glu1148Asp missense NM_001407897.1:c.3444G>C NP_001394826.1:p.Glu1148Asp missense NM_001407898.1:c.3444G>C NP_001394827.1:p.Glu1148Asp missense NM_001407899.1:c.3444G>C NP_001394828.1:p.Glu1148Asp missense NM_001407900.1:c.3447G>C NP_001394829.1:p.Glu1149Asp missense NM_001407902.1:c.3447G>C NP_001394831.1:p.Glu1149Asp missense NM_001407904.1:c.3447G>C NP_001394833.1:p.Glu1149Asp missense NM_001407906.1:c.3447G>C NP_001394835.1:p.Glu1149Asp missense NM_001407907.1:c.3447G>C NP_001394836.1:p.Glu1149Asp missense NM_001407908.1:c.3447G>C NP_001394837.1:p.Glu1149Asp missense NM_001407909.1:c.3447G>C NP_001394838.1:p.Glu1149Asp missense NM_001407910.1:c.3447G>C NP_001394839.1:p.Glu1149Asp missense NM_001407915.1:c.3444G>C NP_001394844.1:p.Glu1148Asp missense NM_001407916.1:c.3444G>C NP_001394845.1:p.Glu1148Asp missense NM_001407917.1:c.3444G>C NP_001394846.1:p.Glu1148Asp missense NM_001407918.1:c.3444G>C NP_001394847.1:p.Glu1148Asp missense NM_001407919.1:c.3534G>C NP_001394848.1:p.Glu1178Asp missense NM_001407920.1:c.3393G>C NP_001394849.1:p.Glu1131Asp missense NM_001407921.1:c.3393G>C NP_001394850.1:p.Glu1131Asp missense NM_001407922.1:c.3393G>C NP_001394851.1:p.Glu1131Asp missense NM_001407923.1:c.3393G>C NP_001394852.1:p.Glu1131Asp missense NM_001407924.1:c.3393G>C NP_001394853.1:p.Glu1131Asp missense NM_001407925.1:c.3393G>C NP_001394854.1:p.Glu1131Asp missense NM_001407926.1:c.3393G>C NP_001394855.1:p.Glu1131Asp missense NM_001407927.1:c.3393G>C NP_001394856.1:p.Glu1131Asp missense NM_001407928.1:c.3393G>C NP_001394857.1:p.Glu1131Asp missense NM_001407929.1:c.3393G>C NP_001394858.1:p.Glu1131Asp missense NM_001407930.1:c.3390G>C NP_001394859.1:p.Glu1130Asp missense NM_001407931.1:c.3390G>C NP_001394860.1:p.Glu1130Asp missense NM_001407932.1:c.3390G>C NP_001394861.1:p.Glu1130Asp missense NM_001407933.1:c.3393G>C NP_001394862.1:p.Glu1131Asp missense NM_001407934.1:c.3390G>C NP_001394863.1:p.Glu1130Asp missense NM_001407935.1:c.3393G>C NP_001394864.1:p.Glu1131Asp missense NM_001407936.1:c.3390G>C NP_001394865.1:p.Glu1130Asp missense NM_001407937.1:c.3534G>C NP_001394866.1:p.Glu1178Asp missense NM_001407938.1:c.3534G>C NP_001394867.1:p.Glu1178Asp missense NM_001407939.1:c.3534G>C NP_001394868.1:p.Glu1178Asp missense NM_001407940.1:c.3531G>C NP_001394869.1:p.Glu1177Asp missense NM_001407941.1:c.3531G>C NP_001394870.1:p.Glu1177Asp missense NM_001407942.1:c.3516G>C NP_001394871.1:p.Glu1172Asp missense NM_001407943.1:c.3513G>C NP_001394872.1:p.Glu1171Asp missense NM_001407944.1:c.3516G>C NP_001394873.1:p.Glu1172Asp missense NM_001407945.1:c.3516G>C NP_001394874.1:p.Glu1172Asp missense NM_001407946.1:c.3324G>C NP_001394875.1:p.Glu1108Asp missense NM_001407947.1:c.3324G>C NP_001394876.1:p.Glu1108Asp missense NM_001407948.1:c.3324G>C NP_001394877.1:p.Glu1108Asp missense NM_001407949.1:c.3324G>C NP_001394878.1:p.Glu1108Asp missense NM_001407950.1:c.3324G>C NP_001394879.1:p.Glu1108Asp missense NM_001407951.1:c.3324G>C NP_001394880.1:p.Glu1108Asp missense NM_001407952.1:c.3324G>C NP_001394881.1:p.Glu1108Asp missense NM_001407953.1:c.3324G>C NP_001394882.1:p.Glu1108Asp missense NM_001407954.1:c.3321G>C NP_001394883.1:p.Glu1107Asp missense NM_001407955.1:c.3321G>C NP_001394884.1:p.Glu1107Asp missense NM_001407956.1:c.3321G>C NP_001394885.1:p.Glu1107Asp missense NM_001407957.1:c.3324G>C NP_001394886.1:p.Glu1108Asp missense NM_001407958.1:c.3321G>C NP_001394887.1:p.Glu1107Asp missense NM_001407959.1:c.3276G>C NP_001394888.1:p.Glu1092Asp missense NM_001407960.1:c.3276G>C NP_001394889.1:p.Glu1092Asp missense NM_001407962.1:c.3273G>C NP_001394891.1:p.Glu1091Asp missense NM_001407963.1:c.3276G>C NP_001394892.1:p.Glu1092Asp missense NM_001407964.1:c.3513G>C NP_001394893.1:p.Glu1171Asp missense NM_001407965.1:c.3153G>C NP_001394894.1:p.Glu1051Asp missense NM_001407966.1:c.2769G>C NP_001394895.1:p.Glu923Asp missense NM_001407967.1:c.2769G>C NP_001394896.1:p.Glu923Asp missense NM_001407968.1:c.1053G>C NP_001394897.1:p.Glu351Asp missense NM_001407969.1:c.1053G>C NP_001394898.1:p.Glu351Asp missense NM_001407970.1:c.788-842G>C intron variant NM_001407971.1:c.788-842G>C intron variant NM_001407972.1:c.785-842G>C intron variant NM_001407973.1:c.788-842G>C intron variant NM_001407974.1:c.788-842G>C intron variant NM_001407975.1:c.788-842G>C intron variant NM_001407976.1:c.788-842G>C intron variant NM_001407977.1:c.788-842G>C intron variant NM_001407978.1:c.788-842G>C intron variant NM_001407979.1:c.788-842G>C intron variant NM_001407980.1:c.788-842G>C intron variant NM_001407981.1:c.788-842G>C intron variant NM_001407982.1:c.788-842G>C intron variant NM_001407983.1:c.788-842G>C intron variant NM_001407984.1:c.785-842G>C intron variant NM_001407985.1:c.785-842G>C intron variant NM_001407986.1:c.785-842G>C intron variant NM_001407990.1:c.788-842G>C intron variant NM_001407991.1:c.785-842G>C intron variant NM_001407992.1:c.785-842G>C intron variant NM_001407993.1:c.788-842G>C intron variant NM_001408392.1:c.785-842G>C intron variant NM_001408396.1:c.785-842G>C intron variant NM_001408397.1:c.785-842G>C intron variant NM_001408398.1:c.785-842G>C intron variant NM_001408399.1:c.785-842G>C intron variant NM_001408400.1:c.785-842G>C intron variant NM_001408401.1:c.785-842G>C intron variant NM_001408402.1:c.785-842G>C intron variant NM_001408403.1:c.788-842G>C intron variant NM_001408404.1:c.788-842G>C intron variant NM_001408406.1:c.791-851G>C intron variant NM_001408407.1:c.785-842G>C intron variant NM_001408408.1:c.779-842G>C intron variant NM_001408409.1:c.710-842G>C intron variant NM_001408410.1:c.647-842G>C intron variant NM_001408411.1:c.710-842G>C intron variant NM_001408412.1:c.710-842G>C intron variant NM_001408413.1:c.707-842G>C intron variant NM_001408414.1:c.710-842G>C intron variant NM_001408415.1:c.710-842G>C intron variant NM_001408416.1:c.707-842G>C intron variant NM_001408418.1:c.671-842G>C intron variant NM_001408419.1:c.671-842G>C intron variant NM_001408420.1:c.671-842G>C intron variant NM_001408421.1:c.668-842G>C intron variant NM_001408422.1:c.671-842G>C intron variant NM_001408423.1:c.671-842G>C intron variant NM_001408424.1:c.668-842G>C intron variant NM_001408425.1:c.665-842G>C intron variant NM_001408426.1:c.665-842G>C intron variant NM_001408427.1:c.665-842G>C intron variant NM_001408428.1:c.665-842G>C intron variant NM_001408429.1:c.665-842G>C intron variant NM_001408430.1:c.665-842G>C intron variant NM_001408431.1:c.668-842G>C intron variant NM_001408432.1:c.662-842G>C intron variant NM_001408433.1:c.662-842G>C intron variant NM_001408434.1:c.662-842G>C intron variant NM_001408435.1:c.662-842G>C intron variant NM_001408436.1:c.665-842G>C intron variant NM_001408437.1:c.665-842G>C intron variant NM_001408438.1:c.665-842G>C intron variant NM_001408439.1:c.665-842G>C intron variant NM_001408440.1:c.665-842G>C intron variant NM_001408441.1:c.665-842G>C intron variant NM_001408442.1:c.665-842G>C intron variant NM_001408443.1:c.665-842G>C intron variant NM_001408444.1:c.665-842G>C intron variant NM_001408445.1:c.662-842G>C intron variant NM_001408446.1:c.662-842G>C intron variant NM_001408447.1:c.662-842G>C intron variant NM_001408448.1:c.662-842G>C intron variant NM_001408450.1:c.662-842G>C intron variant NM_001408451.1:c.653-842G>C intron variant NM_001408452.1:c.647-842G>C intron variant NM_001408453.1:c.647-842G>C intron variant NM_001408454.1:c.647-842G>C intron variant NM_001408455.1:c.647-842G>C intron variant NM_001408456.1:c.647-842G>C intron variant NM_001408457.1:c.647-842G>C intron variant NM_001408458.1:c.647-842G>C intron variant NM_001408459.1:c.647-842G>C intron variant NM_001408460.1:c.647-842G>C intron variant NM_001408461.1:c.647-842G>C intron variant NM_001408462.1:c.644-842G>C intron variant NM_001408463.1:c.644-842G>C intron variant NM_001408464.1:c.644-842G>C intron variant NM_001408465.1:c.644-842G>C intron variant NM_001408466.1:c.647-842G>C intron variant NM_001408467.1:c.647-842G>C intron variant NM_001408468.1:c.644-842G>C intron variant NM_001408469.1:c.647-842G>C intron variant NM_001408470.1:c.644-842G>C intron variant NM_001408472.1:c.788-842G>C intron variant NM_001408473.1:c.785-842G>C intron variant NM_001408474.1:c.587-842G>C intron variant NM_001408475.1:c.584-842G>C intron variant NM_001408476.1:c.587-842G>C intron variant NM_001408478.1:c.578-842G>C intron variant NM_001408479.1:c.578-842G>C intron variant NM_001408480.1:c.578-842G>C intron variant NM_001408481.1:c.578-842G>C intron variant NM_001408482.1:c.578-842G>C intron variant NM_001408483.1:c.578-842G>C intron variant NM_001408484.1:c.578-842G>C intron variant NM_001408485.1:c.578-842G>C intron variant NM_001408489.1:c.578-842G>C intron variant NM_001408490.1:c.575-842G>C intron variant NM_001408491.1:c.575-842G>C intron variant NM_001408492.1:c.578-842G>C intron variant NM_001408493.1:c.575-842G>C intron variant NM_001408494.1:c.548-842G>C intron variant NM_001408495.1:c.545-842G>C intron variant NM_001408496.1:c.524-842G>C intron variant NM_001408497.1:c.524-842G>C intron variant NM_001408498.1:c.524-842G>C intron variant NM_001408499.1:c.524-842G>C intron variant NM_001408500.1:c.524-842G>C intron variant NM_001408501.1:c.524-842G>C intron variant NM_001408502.1:c.455-842G>C intron variant NM_001408503.1:c.521-842G>C intron variant NM_001408504.1:c.521-842G>C intron variant NM_001408505.1:c.521-842G>C intron variant NM_001408506.1:c.461-842G>C intron variant NM_001408507.1:c.461-842G>C intron variant NM_001408508.1:c.452-842G>C intron variant NM_001408509.1:c.452-842G>C intron variant NM_001408510.1:c.407-842G>C intron variant NM_001408511.1:c.404-842G>C intron variant NM_001408512.1:c.284-842G>C intron variant NM_001408513.1:c.578-842G>C intron variant NM_001408514.1:c.578-842G>C intron variant NM_007297.4:c.3516G>C NP_009228.2:p.Glu1172Asp missense NM_007298.4:c.788-842G>C intron variant NM_007299.4:c.788-842G>C intron variant NM_007300.4:c.3657G>C NP_009231.2:p.Glu1219Asp missense NR_027676.1:n.3793G>C NC_000017.11:g.43091874C>G NC_000017.10:g.41243891C>G NG_005905.2:g.126110G>C NG_087068.1:g.856C>G LRG_292:g.126110G>C LRG_292t1:c.3657G>C LRG_292p1:p.Glu1219Asp P38398:p.Glu1219Asp U14680.1:n.3776G>C - Protein change
- E1219D, E1172D, E1051D, E1091D, E1092D, E1149D, E1171D, E1178D, E1216D, E351D, E1131D, E1177D, E1192D, E1218D, E1107D, E1151D, E1193D, E923D, E1108D, E1130D, E1148D, E1152D
- Other names
- p.E1219D:GAG>GAC
- 3776G>C
- Canonical SPDI
- NC_000017.11:43091873:C:G
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
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 | ||
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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. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13037 | 14843 | |
LOC126862571 | - | - | - | GRCh38 | - | 1651 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Benign (6) |
reviewed by expert panel
|
Jun 18, 2019 | RCV000031118.20 | |
Benign (2) |
criteria provided, multiple submitters, no conflicts
|
Aug 15, 2023 | RCV000048275.23 | |
Likely benign (3) |
criteria provided, multiple submitters, no conflicts
|
Feb 7, 2021 | RCV000131238.16 | |
Likely benign (1) |
no assertion criteria provided
|
Jun 1, 2014 | RCV000148382.11 | |
Likely benign (1) |
criteria provided, single submitter
|
Jan 18, 2024 | RCV000203654.21 | |
Conflicting interpretations of pathogenicity (3) |
criteria provided, conflicting classifications
|
Apr 20, 2021 | RCV000589430.20 |
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. |
|
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Benign
(Jun 18, 2019)
|
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: SCV001161586.2
First in ClinVar: Feb 16, 2020 Last updated: Jan 07, 2023 |
Comment:
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on … (more)
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.000503 (less)
|
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Benign
(May 28, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Mendelics
Accession: SCV001140549.1
First in ClinVar: Jan 09, 2020 Last updated: Jan 09, 2020 |
|
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Uncertain significance
(Dec 15, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000487784.2
First in ClinVar: May 27, 2015 Last updated: Dec 24, 2022 |
|
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Likely benign
(Jan 18, 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: SCV000076288.14
First in ClinVar: Jul 03, 2013 Last updated: Feb 28, 2024 |
|
|
Uncertain significance
(Sep 09, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000224996.5
First in ClinVar: Jun 29, 2015 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 1
Sex: mixed
|
|
Likely benign
(Nov 10, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000903171.1
First in ClinVar: May 20, 2019 Last updated: May 20, 2019 |
|
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Likely benign
(Feb 07, 2021)
|
criteria provided, single submitter
Method: curation
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Sema4, Sema4
Accession: SCV002538224.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022 |
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Likely benign
(Dec 23, 2019)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000209954.15
First in ClinVar: Feb 24, 2015 Last updated: Mar 04, 2023 |
Comment:
Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports … (more)
Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25637381, 8776600, 8872468, 15235020, 26689913, 16518693, 31131967, 33087888) (less)
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Benign
(Jul 06, 2020)
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criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000699054.2
First in ClinVar: Mar 17, 2018 Last updated: Aug 08, 2020 |
Comment:
Variant summary: BRCA1 c.3657G>C (p.Glu1219Asp) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign … (more)
Variant summary: BRCA1 c.3657G>C (p.Glu1219Asp) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.6e-05 in 251288 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.3657G>C has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (e.g. Durocher_1996). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. A co-occurrence with a pathogenic variant has been reported (BRCA2 c.4471_4474delCTGA, p.Leu1491fsX12; Internal testing), providing supporting evidence for a benign role. Experimental evidence evaluating an impact on protein function through utilization of a homology-directed DNA repair assay demonstrated the variant to perform equivalently to the wild-type (Lu_2015). Seven ClinVar submitters (evaluation after 2014) cite the variant as benign/likely benign (n=4) and as uncertain significance (n=3). An expert panel (ENIGMA) (evaluation after 2014) cites the variant as benign based on utilization of a multifactorial likelihood model encompassing likelihood ratios (LRs) for pathogenicity estimated from clinical data of co-occurrence with a pathogenic variant in the same gene, reported family history, breast tumor pathology and bioinformatic predictions (Parsons_2019). Based on the evidence outlined above, the variant was classified as benign. (less)
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Likely benign
(Apr 20, 2021)
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criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000600338.2
First in ClinVar: Dec 06, 2016 Last updated: Jan 03, 2022 |
|
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Benign
(Aug 15, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV002550995.4
First in ClinVar: Jul 30, 2022 Last updated: Aug 18, 2023 |
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Likely benign
(Nov 06, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000186193.7
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of … (more)
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
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Likely benign
(Jun 12, 2008)
|
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: SCV000053716.3
First in ClinVar: Apr 04, 2013 Last updated: Sep 27, 2014 |
|
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Uncertain significance
(Feb 20, 2004)
|
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: SCV000144827.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 3
Observation 2:
Number of individuals with the variant: 2
Ethnicity/Population group: Western European
Observation 3:
Number of individuals with the variant: 1
Ethnicity/Population group: Western Europeanan, Central/Eastern European
|
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Likely benign
(Jun 01, 2014)
|
no assertion criteria provided
Method: research
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Breast cancer
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
CSER _CC_NCGL, University of Washington
Study: ESP 6500 variant annotation
Accession: SCV000190080.1 First in ClinVar: Dec 06, 2014 Last updated: Dec 06, 2014
Comment:
Variants classified for the Actionable exomic incidental findings in 6503 participants: challenges of variant classification manuscript
|
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Likely benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
unknown
|
Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001550879.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
The BRCA1 p.Glu1219Asp variant was identified in 2 of 8356 proband chromosomes (frequency: 0.0002) from individuals or families with breast, ovarian or renal cancer and … (more)
The BRCA1 p.Glu1219Asp variant was identified in 2 of 8356 proband chromosomes (frequency: 0.0002) from individuals or families with breast, ovarian or renal cancer and was not identified in 128 control chromosomes from healthy individuals (Durocher 1996, Lu 2015). The variant was also identified in dbSNP (ID: rs80356876) as "With Likely benign, Uncertain significance allele", ClinVar (classified as likely benign by Ambry Genetics, Color and SCRP; as uncertain significance Invitae, Counsyl and five other submitters), LOVD 3.0 (4x as unclassified variant), and UMD-LSDB (2x as unclassified variant). Integrated Genetics/Laboratory Corporation of America reported identifying the variant with a co-occurring, deleterious variant in BRCA2 (c.4471_4474delCTGA), increasing the likelihood that the p.Glu1219Asp variant does not have clinical significance. The variant was identified in control databases in 5 of 246040 chromosomes at a frequency of 0.00002 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the European population in 5 of 111534 chromosomes (freq: 0.00005), while it was not observed in the African, Other, Latino, Ashkenazi Jewish, East Asian, Finnish, or South Asian populations. The p.Glu1219 residue is conserved in mammals but not in more distantly related organisms however computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) do not suggest a high likelihood of impact to the protein; this information is not predictive enough to rule out pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing; this is not very predictive of pathogenicity. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign. (less)
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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. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Evaluation of the contribution of germline variants in BRCA1 and BRCA2 to uveal and cutaneous melanoma. | Johansson PA | Melanoma research | 2019 | PMID: 31464824 |
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. | Parsons MT | Human mutation | 2019 | PMID: 31131967 |
Patterns and functional implications of rare germline variants across 12 cancer types. | Lu C | Nature communications | 2015 | PMID: 26689913 |
Actionable exomic incidental findings in 6503 participants: challenges of variant classification. | Amendola LM | Genome research | 2015 | PMID: 25637381 |
Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2. | Tram E | PloS one | 2013 | PMID: 23704879 |
Natural selection and mammalian BRCA1 sequences: elucidating functionally important sites relevant to breast cancer susceptibility in humans. | Burk-Herrick A | Mammalian genome : official journal of the International Mammalian Genome Society | 2006 | PMID: 16518693 |
Evolution of the tumor suppressor BRCA1 locus in primates: implications for cancer predisposition. | Pavlicek A | Human molecular genetics | 2004 | PMID: 15385441 |
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. | Abkevich V | Journal of medical genetics | 2004 | PMID: 15235020 |
Coding variants in human double-strand break DNA repair genes. | Ruttan CC | Mutation research | 2002 | PMID: 12427538 |
Human, canine and murine BRCA1 genes: sequence comparison among species. | Szabo CI | Human molecular genetics | 1996 | PMID: 8872468 |
Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information Core. | Couch FJ | Human mutation | 1996 | PMID: 8807330 |
Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations. | Durocher F | Human molecular genetics | 1996 | PMID: 8776600 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=BRCA1 | - | - | - | - |
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Text-mined citations for rs80356876 ...
HelpRecord last updated Oct 13, 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.