ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3587C>T (p.Thr1196Ile)
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.
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.
Uncertain significance(12); Likely benign(1)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.3587C>T (p.Thr1196Ile)
Variation ID: 54926 Accession: VCV000054926.48
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43091944 (GRCh38) [ NCBI UCSC ] 17: 41243961 (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 12, 2024 Feb 6, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.3587C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Thr1196Ile missense NM_001407571.1:c.3374C>T NP_001394500.1:p.Thr1125Ile missense NM_001407581.1:c.3587C>T NP_001394510.1:p.Thr1196Ile missense NM_001407582.1:c.3587C>T NP_001394511.1:p.Thr1196Ile missense NM_001407583.1:c.3587C>T NP_001394512.1:p.Thr1196Ile missense NM_001407585.1:c.3587C>T NP_001394514.1:p.Thr1196Ile missense NM_001407587.1:c.3584C>T NP_001394516.1:p.Thr1195Ile missense NM_001407590.1:c.3584C>T NP_001394519.1:p.Thr1195Ile missense NM_001407591.1:c.3584C>T NP_001394520.1:p.Thr1195Ile missense NM_001407593.1:c.3587C>T NP_001394522.1:p.Thr1196Ile missense NM_001407594.1:c.3587C>T NP_001394523.1:p.Thr1196Ile missense NM_001407596.1:c.3587C>T NP_001394525.1:p.Thr1196Ile missense NM_001407597.1:c.3587C>T NP_001394526.1:p.Thr1196Ile missense NM_001407598.1:c.3587C>T NP_001394527.1:p.Thr1196Ile missense NM_001407602.1:c.3587C>T NP_001394531.1:p.Thr1196Ile missense NM_001407603.1:c.3587C>T NP_001394532.1:p.Thr1196Ile missense NM_001407605.1:c.3587C>T NP_001394534.1:p.Thr1196Ile missense NM_001407610.1:c.3584C>T NP_001394539.1:p.Thr1195Ile missense NM_001407611.1:c.3584C>T NP_001394540.1:p.Thr1195Ile missense NM_001407612.1:c.3584C>T NP_001394541.1:p.Thr1195Ile missense NM_001407613.1:c.3584C>T NP_001394542.1:p.Thr1195Ile missense NM_001407614.1:c.3584C>T NP_001394543.1:p.Thr1195Ile missense NM_001407615.1:c.3584C>T NP_001394544.1:p.Thr1195Ile missense NM_001407616.1:c.3587C>T NP_001394545.1:p.Thr1196Ile missense NM_001407617.1:c.3587C>T NP_001394546.1:p.Thr1196Ile missense NM_001407618.1:c.3587C>T NP_001394547.1:p.Thr1196Ile missense NM_001407619.1:c.3587C>T NP_001394548.1:p.Thr1196Ile missense NM_001407620.1:c.3587C>T NP_001394549.1:p.Thr1196Ile missense NM_001407621.1:c.3587C>T NP_001394550.1:p.Thr1196Ile missense NM_001407622.1:c.3587C>T NP_001394551.1:p.Thr1196Ile missense NM_001407623.1:c.3587C>T NP_001394552.1:p.Thr1196Ile missense NM_001407624.1:c.3587C>T NP_001394553.1:p.Thr1196Ile missense NM_001407625.1:c.3587C>T NP_001394554.1:p.Thr1196Ile missense NM_001407626.1:c.3587C>T NP_001394555.1:p.Thr1196Ile missense NM_001407627.1:c.3584C>T NP_001394556.1:p.Thr1195Ile missense NM_001407628.1:c.3584C>T NP_001394557.1:p.Thr1195Ile missense NM_001407629.1:c.3584C>T NP_001394558.1:p.Thr1195Ile missense NM_001407630.1:c.3584C>T NP_001394559.1:p.Thr1195Ile missense NM_001407631.1:c.3584C>T NP_001394560.1:p.Thr1195Ile missense NM_001407632.1:c.3584C>T NP_001394561.1:p.Thr1195Ile missense NM_001407633.1:c.3584C>T NP_001394562.1:p.Thr1195Ile missense NM_001407634.1:c.3584C>T NP_001394563.1:p.Thr1195Ile missense NM_001407635.1:c.3584C>T NP_001394564.1:p.Thr1195Ile missense NM_001407636.1:c.3584C>T NP_001394565.1:p.Thr1195Ile missense NM_001407637.1:c.3584C>T NP_001394566.1:p.Thr1195Ile missense NM_001407638.1:c.3584C>T NP_001394567.1:p.Thr1195Ile missense NM_001407639.1:c.3587C>T NP_001394568.1:p.Thr1196Ile missense NM_001407640.1:c.3587C>T NP_001394569.1:p.Thr1196Ile missense NM_001407641.1:c.3587C>T NP_001394570.1:p.Thr1196Ile missense NM_001407642.1:c.3587C>T NP_001394571.1:p.Thr1196Ile missense NM_001407644.1:c.3584C>T NP_001394573.1:p.Thr1195Ile missense NM_001407645.1:c.3584C>T NP_001394574.1:p.Thr1195Ile missense NM_001407646.1:c.3578C>T NP_001394575.1:p.Thr1193Ile missense NM_001407647.1:c.3578C>T NP_001394576.1:p.Thr1193Ile missense NM_001407648.1:c.3464C>T NP_001394577.1:p.Thr1155Ile missense NM_001407649.1:c.3461C>T NP_001394578.1:p.Thr1154Ile missense NM_001407652.1:c.3587C>T NP_001394581.1:p.Thr1196Ile missense NM_001407653.1:c.3509C>T NP_001394582.1:p.Thr1170Ile missense NM_001407654.1:c.3509C>T NP_001394583.1:p.Thr1170Ile missense NM_001407655.1:c.3509C>T NP_001394584.1:p.Thr1170Ile missense NM_001407656.1:c.3509C>T NP_001394585.1:p.Thr1170Ile missense NM_001407657.1:c.3509C>T NP_001394586.1:p.Thr1170Ile missense NM_001407658.1:c.3509C>T NP_001394587.1:p.Thr1170Ile missense NM_001407659.1:c.3506C>T NP_001394588.1:p.Thr1169Ile missense NM_001407660.1:c.3506C>T NP_001394589.1:p.Thr1169Ile missense NM_001407661.1:c.3506C>T NP_001394590.1:p.Thr1169Ile missense NM_001407662.1:c.3506C>T NP_001394591.1:p.Thr1169Ile missense NM_001407663.1:c.3509C>T NP_001394592.1:p.Thr1170Ile missense NM_001407664.1:c.3464C>T NP_001394593.1:p.Thr1155Ile missense NM_001407665.1:c.3464C>T NP_001394594.1:p.Thr1155Ile missense NM_001407666.1:c.3464C>T NP_001394595.1:p.Thr1155Ile missense NM_001407667.1:c.3464C>T NP_001394596.1:p.Thr1155Ile missense NM_001407668.1:c.3464C>T NP_001394597.1:p.Thr1155Ile missense NM_001407669.1:c.3464C>T NP_001394598.1:p.Thr1155Ile missense NM_001407670.1:c.3461C>T NP_001394599.1:p.Thr1154Ile missense NM_001407671.1:c.3461C>T NP_001394600.1:p.Thr1154Ile missense NM_001407672.1:c.3461C>T NP_001394601.1:p.Thr1154Ile missense NM_001407673.1:c.3461C>T NP_001394602.1:p.Thr1154Ile missense NM_001407674.1:c.3464C>T NP_001394603.1:p.Thr1155Ile missense NM_001407675.1:c.3464C>T NP_001394604.1:p.Thr1155Ile missense NM_001407676.1:c.3464C>T NP_001394605.1:p.Thr1155Ile missense NM_001407677.1:c.3464C>T NP_001394606.1:p.Thr1155Ile missense NM_001407678.1:c.3464C>T NP_001394607.1:p.Thr1155Ile missense NM_001407679.1:c.3464C>T NP_001394608.1:p.Thr1155Ile missense NM_001407680.1:c.3464C>T NP_001394609.1:p.Thr1155Ile missense NM_001407681.1:c.3464C>T NP_001394610.1:p.Thr1155Ile missense NM_001407682.1:c.3464C>T NP_001394611.1:p.Thr1155Ile missense NM_001407683.1:c.3464C>T NP_001394612.1:p.Thr1155Ile missense NM_001407684.1:c.3587C>T NP_001394613.1:p.Thr1196Ile missense NM_001407685.1:c.3461C>T NP_001394614.1:p.Thr1154Ile missense NM_001407686.1:c.3461C>T NP_001394615.1:p.Thr1154Ile missense NM_001407687.1:c.3461C>T NP_001394616.1:p.Thr1154Ile missense NM_001407688.1:c.3461C>T NP_001394617.1:p.Thr1154Ile missense NM_001407689.1:c.3461C>T NP_001394618.1:p.Thr1154Ile missense NM_001407690.1:c.3461C>T NP_001394619.1:p.Thr1154Ile missense NM_001407691.1:c.3461C>T NP_001394620.1:p.Thr1154Ile missense NM_001407692.1:c.3446C>T NP_001394621.1:p.Thr1149Ile missense NM_001407694.1:c.3446C>T NP_001394623.1:p.Thr1149Ile missense NM_001407695.1:c.3446C>T NP_001394624.1:p.Thr1149Ile missense NM_001407696.1:c.3446C>T NP_001394625.1:p.Thr1149Ile missense NM_001407697.1:c.3446C>T NP_001394626.1:p.Thr1149Ile missense NM_001407698.1:c.3446C>T NP_001394627.1:p.Thr1149Ile missense NM_001407724.1:c.3446C>T NP_001394653.1:p.Thr1149Ile missense NM_001407725.1:c.3446C>T NP_001394654.1:p.Thr1149Ile missense NM_001407726.1:c.3446C>T NP_001394655.1:p.Thr1149Ile missense NM_001407727.1:c.3446C>T NP_001394656.1:p.Thr1149Ile missense NM_001407728.1:c.3446C>T NP_001394657.1:p.Thr1149Ile missense NM_001407729.1:c.3446C>T NP_001394658.1:p.Thr1149Ile missense NM_001407730.1:c.3446C>T NP_001394659.1:p.Thr1149Ile missense NM_001407731.1:c.3446C>T NP_001394660.1:p.Thr1149Ile missense NM_001407732.1:c.3446C>T NP_001394661.1:p.Thr1149Ile missense NM_001407733.1:c.3446C>T NP_001394662.1:p.Thr1149Ile missense NM_001407734.1:c.3446C>T NP_001394663.1:p.Thr1149Ile missense NM_001407735.1:c.3446C>T NP_001394664.1:p.Thr1149Ile missense NM_001407736.1:c.3446C>T NP_001394665.1:p.Thr1149Ile missense NM_001407737.1:c.3446C>T NP_001394666.1:p.Thr1149Ile missense NM_001407738.1:c.3446C>T NP_001394667.1:p.Thr1149Ile missense NM_001407739.1:c.3446C>T NP_001394668.1:p.Thr1149Ile missense NM_001407740.1:c.3443C>T NP_001394669.1:p.Thr1148Ile missense NM_001407741.1:c.3443C>T NP_001394670.1:p.Thr1148Ile missense NM_001407742.1:c.3443C>T NP_001394671.1:p.Thr1148Ile missense NM_001407743.1:c.3443C>T NP_001394672.1:p.Thr1148Ile missense NM_001407744.1:c.3443C>T NP_001394673.1:p.Thr1148Ile missense NM_001407745.1:c.3443C>T NP_001394674.1:p.Thr1148Ile missense NM_001407746.1:c.3443C>T NP_001394675.1:p.Thr1148Ile missense NM_001407747.1:c.3443C>T NP_001394676.1:p.Thr1148Ile missense NM_001407748.1:c.3443C>T NP_001394677.1:p.Thr1148Ile missense NM_001407749.1:c.3443C>T NP_001394678.1:p.Thr1148Ile missense NM_001407750.1:c.3446C>T NP_001394679.1:p.Thr1149Ile missense NM_001407751.1:c.3446C>T NP_001394680.1:p.Thr1149Ile missense NM_001407752.1:c.3446C>T NP_001394681.1:p.Thr1149Ile missense NM_001407838.1:c.3443C>T NP_001394767.1:p.Thr1148Ile missense NM_001407839.1:c.3443C>T NP_001394768.1:p.Thr1148Ile missense NM_001407841.1:c.3443C>T NP_001394770.1:p.Thr1148Ile missense NM_001407842.1:c.3443C>T NP_001394771.1:p.Thr1148Ile missense NM_001407843.1:c.3443C>T NP_001394772.1:p.Thr1148Ile missense NM_001407844.1:c.3443C>T NP_001394773.1:p.Thr1148Ile missense NM_001407845.1:c.3443C>T NP_001394774.1:p.Thr1148Ile missense NM_001407846.1:c.3443C>T NP_001394775.1:p.Thr1148Ile missense NM_001407847.1:c.3443C>T NP_001394776.1:p.Thr1148Ile missense NM_001407848.1:c.3443C>T NP_001394777.1:p.Thr1148Ile missense NM_001407849.1:c.3443C>T NP_001394778.1:p.Thr1148Ile missense NM_001407850.1:c.3446C>T NP_001394779.1:p.Thr1149Ile missense NM_001407851.1:c.3446C>T NP_001394780.1:p.Thr1149Ile missense NM_001407852.1:c.3446C>T NP_001394781.1:p.Thr1149Ile missense NM_001407853.1:c.3374C>T NP_001394782.1:p.Thr1125Ile missense NM_001407854.1:c.3587C>T NP_001394783.1:p.Thr1196Ile missense NM_001407858.1:c.3587C>T NP_001394787.1:p.Thr1196Ile missense NM_001407859.1:c.3587C>T NP_001394788.1:p.Thr1196Ile missense NM_001407860.1:c.3584C>T NP_001394789.1:p.Thr1195Ile missense NM_001407861.1:c.3584C>T NP_001394790.1:p.Thr1195Ile missense NM_001407862.1:c.3386C>T NP_001394791.1:p.Thr1129Ile missense NM_001407863.1:c.3464C>T NP_001394792.1:p.Thr1155Ile missense NM_001407874.1:c.3383C>T NP_001394803.1:p.Thr1128Ile missense NM_001407875.1:c.3383C>T NP_001394804.1:p.Thr1128Ile missense NM_001407879.1:c.3377C>T NP_001394808.1:p.Thr1126Ile missense NM_001407881.1:c.3377C>T NP_001394810.1:p.Thr1126Ile missense NM_001407882.1:c.3377C>T NP_001394811.1:p.Thr1126Ile missense NM_001407884.1:c.3377C>T NP_001394813.1:p.Thr1126Ile missense NM_001407885.1:c.3377C>T NP_001394814.1:p.Thr1126Ile missense NM_001407886.1:c.3377C>T NP_001394815.1:p.Thr1126Ile missense NM_001407887.1:c.3377C>T NP_001394816.1:p.Thr1126Ile missense NM_001407889.1:c.3377C>T NP_001394818.1:p.Thr1126Ile missense NM_001407894.1:c.3374C>T NP_001394823.1:p.Thr1125Ile missense NM_001407895.1:c.3374C>T NP_001394824.1:p.Thr1125Ile missense NM_001407896.1:c.3374C>T NP_001394825.1:p.Thr1125Ile missense NM_001407897.1:c.3374C>T NP_001394826.1:p.Thr1125Ile missense NM_001407898.1:c.3374C>T NP_001394827.1:p.Thr1125Ile missense NM_001407899.1:c.3374C>T NP_001394828.1:p.Thr1125Ile missense NM_001407900.1:c.3377C>T NP_001394829.1:p.Thr1126Ile missense NM_001407902.1:c.3377C>T NP_001394831.1:p.Thr1126Ile missense NM_001407904.1:c.3377C>T NP_001394833.1:p.Thr1126Ile missense NM_001407906.1:c.3377C>T NP_001394835.1:p.Thr1126Ile missense NM_001407907.1:c.3377C>T NP_001394836.1:p.Thr1126Ile missense NM_001407908.1:c.3377C>T NP_001394837.1:p.Thr1126Ile missense NM_001407909.1:c.3377C>T NP_001394838.1:p.Thr1126Ile missense NM_001407910.1:c.3377C>T NP_001394839.1:p.Thr1126Ile missense NM_001407915.1:c.3374C>T NP_001394844.1:p.Thr1125Ile missense NM_001407916.1:c.3374C>T NP_001394845.1:p.Thr1125Ile missense NM_001407917.1:c.3374C>T NP_001394846.1:p.Thr1125Ile missense NM_001407918.1:c.3374C>T NP_001394847.1:p.Thr1125Ile missense NM_001407919.1:c.3464C>T NP_001394848.1:p.Thr1155Ile missense NM_001407920.1:c.3323C>T NP_001394849.1:p.Thr1108Ile missense NM_001407921.1:c.3323C>T NP_001394850.1:p.Thr1108Ile missense NM_001407922.1:c.3323C>T NP_001394851.1:p.Thr1108Ile missense NM_001407923.1:c.3323C>T NP_001394852.1:p.Thr1108Ile missense NM_001407924.1:c.3323C>T NP_001394853.1:p.Thr1108Ile missense NM_001407925.1:c.3323C>T NP_001394854.1:p.Thr1108Ile missense NM_001407926.1:c.3323C>T NP_001394855.1:p.Thr1108Ile missense NM_001407927.1:c.3323C>T NP_001394856.1:p.Thr1108Ile missense NM_001407928.1:c.3323C>T NP_001394857.1:p.Thr1108Ile missense NM_001407929.1:c.3323C>T NP_001394858.1:p.Thr1108Ile missense NM_001407930.1:c.3320C>T NP_001394859.1:p.Thr1107Ile missense NM_001407931.1:c.3320C>T NP_001394860.1:p.Thr1107Ile missense NM_001407932.1:c.3320C>T NP_001394861.1:p.Thr1107Ile missense NM_001407933.1:c.3323C>T NP_001394862.1:p.Thr1108Ile missense NM_001407934.1:c.3320C>T NP_001394863.1:p.Thr1107Ile missense NM_001407935.1:c.3323C>T NP_001394864.1:p.Thr1108Ile missense NM_001407936.1:c.3320C>T NP_001394865.1:p.Thr1107Ile missense NM_001407937.1:c.3464C>T NP_001394866.1:p.Thr1155Ile missense NM_001407938.1:c.3464C>T NP_001394867.1:p.Thr1155Ile missense NM_001407939.1:c.3464C>T NP_001394868.1:p.Thr1155Ile missense NM_001407940.1:c.3461C>T NP_001394869.1:p.Thr1154Ile missense NM_001407941.1:c.3461C>T NP_001394870.1:p.Thr1154Ile missense NM_001407942.1:c.3446C>T NP_001394871.1:p.Thr1149Ile missense NM_001407943.1:c.3443C>T NP_001394872.1:p.Thr1148Ile missense NM_001407944.1:c.3446C>T NP_001394873.1:p.Thr1149Ile missense NM_001407945.1:c.3446C>T NP_001394874.1:p.Thr1149Ile missense NM_001407946.1:c.3254C>T NP_001394875.1:p.Thr1085Ile missense NM_001407947.1:c.3254C>T NP_001394876.1:p.Thr1085Ile missense NM_001407948.1:c.3254C>T NP_001394877.1:p.Thr1085Ile missense NM_001407949.1:c.3254C>T NP_001394878.1:p.Thr1085Ile missense NM_001407950.1:c.3254C>T NP_001394879.1:p.Thr1085Ile missense NM_001407951.1:c.3254C>T NP_001394880.1:p.Thr1085Ile missense NM_001407952.1:c.3254C>T NP_001394881.1:p.Thr1085Ile missense NM_001407953.1:c.3254C>T NP_001394882.1:p.Thr1085Ile missense NM_001407954.1:c.3251C>T NP_001394883.1:p.Thr1084Ile missense NM_001407955.1:c.3251C>T NP_001394884.1:p.Thr1084Ile missense NM_001407956.1:c.3251C>T NP_001394885.1:p.Thr1084Ile missense NM_001407957.1:c.3254C>T NP_001394886.1:p.Thr1085Ile missense NM_001407958.1:c.3251C>T NP_001394887.1:p.Thr1084Ile missense NM_001407959.1:c.3206C>T NP_001394888.1:p.Thr1069Ile missense NM_001407960.1:c.3206C>T NP_001394889.1:p.Thr1069Ile missense NM_001407962.1:c.3203C>T NP_001394891.1:p.Thr1068Ile missense NM_001407963.1:c.3206C>T NP_001394892.1:p.Thr1069Ile missense NM_001407964.1:c.3443C>T NP_001394893.1:p.Thr1148Ile missense NM_001407965.1:c.3083C>T NP_001394894.1:p.Thr1028Ile missense NM_001407966.1:c.2699C>T NP_001394895.1:p.Thr900Ile missense NM_001407967.1:c.2699C>T NP_001394896.1:p.Thr900Ile missense NM_001407968.1:c.983C>T NP_001394897.1:p.Thr328Ile missense NM_001407969.1:c.983C>T NP_001394898.1:p.Thr328Ile missense NM_001407970.1:c.788-912C>T intron variant NM_001407971.1:c.788-912C>T intron variant NM_001407972.1:c.785-912C>T intron variant NM_001407973.1:c.788-912C>T intron variant NM_001407974.1:c.788-912C>T intron variant NM_001407975.1:c.788-912C>T intron variant NM_001407976.1:c.788-912C>T intron variant NM_001407977.1:c.788-912C>T intron variant NM_001407978.1:c.788-912C>T intron variant NM_001407979.1:c.788-912C>T intron variant NM_001407980.1:c.788-912C>T intron variant NM_001407981.1:c.788-912C>T intron variant NM_001407982.1:c.788-912C>T intron variant NM_001407983.1:c.788-912C>T intron variant NM_001407984.1:c.785-912C>T intron variant NM_001407985.1:c.785-912C>T intron variant NM_001407986.1:c.785-912C>T intron variant NM_001407990.1:c.788-912C>T intron variant NM_001407991.1:c.785-912C>T intron variant NM_001407992.1:c.785-912C>T intron variant NM_001407993.1:c.788-912C>T intron variant NM_001408392.1:c.785-912C>T intron variant NM_001408396.1:c.785-912C>T intron variant NM_001408397.1:c.785-912C>T intron variant NM_001408398.1:c.785-912C>T intron variant NM_001408399.1:c.785-912C>T intron variant NM_001408400.1:c.785-912C>T intron variant NM_001408401.1:c.785-912C>T intron variant NM_001408402.1:c.785-912C>T intron variant NM_001408403.1:c.788-912C>T intron variant NM_001408404.1:c.788-912C>T intron variant NM_001408406.1:c.791-921C>T intron variant NM_001408407.1:c.785-912C>T intron variant NM_001408408.1:c.779-912C>T intron variant NM_001408409.1:c.710-912C>T intron variant NM_001408410.1:c.647-912C>T intron variant NM_001408411.1:c.710-912C>T intron variant NM_001408412.1:c.710-912C>T intron variant NM_001408413.1:c.707-912C>T intron variant NM_001408414.1:c.710-912C>T intron variant NM_001408415.1:c.710-912C>T intron variant NM_001408416.1:c.707-912C>T intron variant NM_001408418.1:c.671-912C>T intron variant NM_001408419.1:c.671-912C>T intron variant NM_001408420.1:c.671-912C>T intron variant NM_001408421.1:c.668-912C>T intron variant NM_001408422.1:c.671-912C>T intron variant NM_001408423.1:c.671-912C>T intron variant NM_001408424.1:c.668-912C>T intron variant NM_001408425.1:c.665-912C>T intron variant NM_001408426.1:c.665-912C>T intron variant NM_001408427.1:c.665-912C>T intron variant NM_001408428.1:c.665-912C>T intron variant NM_001408429.1:c.665-912C>T intron variant NM_001408430.1:c.665-912C>T intron variant NM_001408431.1:c.668-912C>T intron variant NM_001408432.1:c.662-912C>T intron variant NM_001408433.1:c.662-912C>T intron variant NM_001408434.1:c.662-912C>T intron variant NM_001408435.1:c.662-912C>T intron variant NM_001408436.1:c.665-912C>T intron variant NM_001408437.1:c.665-912C>T intron variant NM_001408438.1:c.665-912C>T intron variant NM_001408439.1:c.665-912C>T intron variant NM_001408440.1:c.665-912C>T intron variant NM_001408441.1:c.665-912C>T intron variant NM_001408442.1:c.665-912C>T intron variant NM_001408443.1:c.665-912C>T intron variant NM_001408444.1:c.665-912C>T intron variant NM_001408445.1:c.662-912C>T intron variant NM_001408446.1:c.662-912C>T intron variant NM_001408447.1:c.662-912C>T intron variant NM_001408448.1:c.662-912C>T intron variant NM_001408450.1:c.662-912C>T intron variant NM_001408451.1:c.653-912C>T intron variant NM_001408452.1:c.647-912C>T intron variant NM_001408453.1:c.647-912C>T intron variant NM_001408454.1:c.647-912C>T intron variant NM_001408455.1:c.647-912C>T intron variant NM_001408456.1:c.647-912C>T intron variant NM_001408457.1:c.647-912C>T intron variant NM_001408458.1:c.647-912C>T intron variant NM_001408459.1:c.647-912C>T intron variant NM_001408460.1:c.647-912C>T intron variant NM_001408461.1:c.647-912C>T intron variant NM_001408462.1:c.644-912C>T intron variant NM_001408463.1:c.644-912C>T intron variant NM_001408464.1:c.644-912C>T intron variant NM_001408465.1:c.644-912C>T intron variant NM_001408466.1:c.647-912C>T intron variant NM_001408467.1:c.647-912C>T intron variant NM_001408468.1:c.644-912C>T intron variant NM_001408469.1:c.647-912C>T intron variant NM_001408470.1:c.644-912C>T intron variant NM_001408472.1:c.788-912C>T intron variant NM_001408473.1:c.785-912C>T intron variant NM_001408474.1:c.587-912C>T intron variant NM_001408475.1:c.584-912C>T intron variant NM_001408476.1:c.587-912C>T intron variant NM_001408478.1:c.578-912C>T intron variant NM_001408479.1:c.578-912C>T intron variant NM_001408480.1:c.578-912C>T intron variant NM_001408481.1:c.578-912C>T intron variant NM_001408482.1:c.578-912C>T intron variant NM_001408483.1:c.578-912C>T intron variant NM_001408484.1:c.578-912C>T intron variant NM_001408485.1:c.578-912C>T intron variant NM_001408489.1:c.578-912C>T intron variant NM_001408490.1:c.575-912C>T intron variant NM_001408491.1:c.575-912C>T intron variant NM_001408492.1:c.578-912C>T intron variant NM_001408493.1:c.575-912C>T intron variant NM_001408494.1:c.548-912C>T intron variant NM_001408495.1:c.545-912C>T intron variant NM_001408496.1:c.524-912C>T intron variant NM_001408497.1:c.524-912C>T intron variant NM_001408498.1:c.524-912C>T intron variant NM_001408499.1:c.524-912C>T intron variant NM_001408500.1:c.524-912C>T intron variant NM_001408501.1:c.524-912C>T intron variant NM_001408502.1:c.455-912C>T intron variant NM_001408503.1:c.521-912C>T intron variant NM_001408504.1:c.521-912C>T intron variant NM_001408505.1:c.521-912C>T intron variant NM_001408506.1:c.461-912C>T intron variant NM_001408507.1:c.461-912C>T intron variant NM_001408508.1:c.452-912C>T intron variant NM_001408509.1:c.452-912C>T intron variant NM_001408510.1:c.407-912C>T intron variant NM_001408511.1:c.404-912C>T intron variant NM_001408512.1:c.284-912C>T intron variant NM_001408513.1:c.578-912C>T intron variant NM_001408514.1:c.578-912C>T intron variant NM_007297.4:c.3446C>T NP_009228.2:p.Thr1149Ile missense NM_007298.4:c.788-912C>T intron variant NM_007299.4:c.788-912C>T intron variant NM_007300.3:c.3587C>T NM_007300.4:c.3587C>T NP_009231.2:p.Thr1196Ile missense NR_027676.1:n.3723C>T NC_000017.11:g.43091944G>A NC_000017.10:g.41243961G>A NG_005905.2:g.126040C>T NG_087068.1:g.926G>A LRG_292:g.126040C>T LRG_292t1:c.3587C>T LRG_292p1:p.Thr1196Ile U14680.1:n.3706C>T - Protein change
- T1196I, T1149I, T1028I, T1068I, T1085I, T1129I, T1154I, T1193I, T1195I, T1069I, T1107I, T1128I, T1148I, T1155I, T1169I, T900I, T1084I, T1108I, T1170I, T328I, T1125I, T1126I
- Other names
- -
- Canonical SPDI
- NC_000017.11:43091943:G:A
-
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.
The Genome Aggregation Database (gnomAD), exomes 0.00000
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
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 |
12887 | 14672 | |
LOC126862571 | - | - | - | GRCh38 | - | 1637 |
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. |
---|---|---|---|---|
Uncertain significance (1) |
criteria provided, single submitter
|
Jan 19, 2024 | RCV000048242.16 | |
Uncertain significance (6) |
criteria provided, multiple submitters, no conflicts
|
Aug 25, 2023 | RCV000112127.18 | |
Conflicting interpretations of pathogenicity (3) |
criteria provided, conflicting classifications
|
Mar 23, 2023 | RCV000509865.19 | |
Uncertain significance (2) |
criteria provided, multiple submitters, no conflicts
|
Feb 6, 2024 | RCV000779887.11 | |
Uncertain significance (2) |
criteria provided, multiple submitters, no conflicts
|
Dec 20, 2022 | RCV001092620.26 | |
BRCA1-related disorder
|
Uncertain significance (1) |
criteria provided, single submitter
|
Feb 23, 2023 | RCV004554662.1 |
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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Uncertain significance
(Jun 13, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000785250.2
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
|
|
Uncertain significance
(Apr 27, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV001284949.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. (less)
|
|
Uncertain significance
(Oct 11, 2022)
|
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: SCV000916774.2
First in ClinVar: Jun 02, 2019 Last updated: Nov 19, 2022 |
Comment:
Variant summary: BRCA1 c.3587C>T (p.Thr1196Ile) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign … (more)
Variant summary: BRCA1 c.3587C>T (p.Thr1196Ile) results in a non-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 4e-06 in 250882 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.3587C>T, has been reported in the literature in an individual affected with Breast and/or Ovarian Cancer (example, Riahi_2015, Riahi_2016). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Eight clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. (less)
|
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Uncertain significance
(Dec 20, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV001803478.2
First in ClinVar: Aug 21, 2021 Last updated: Dec 31, 2022 |
Comment:
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; … (more)
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as 3706C>T; This variant is associated with the following publications: (PMID: 24372583, 27211102, 26295337, 29297111, 10923033, 23704879, 34646395, 31131967, 29884841, 35402282, 32377563) (less)
|
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Likely benign
(Mar 23, 2023)
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criteria provided, single submitter
Method: curation
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
University of Washington Department of Laboratory Medicine, University of Washington
Accession: SCV003848336.1
First in ClinVar: Apr 01, 2023 Last updated: Apr 01, 2023
Comment:
BRCA1 coldspot (exon 11 using historical exon numbering). Reclassification based on statistical prior probability
|
Comment:
Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
|
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Uncertain significance
(Feb 23, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
BRCA1-related condition
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV004113975.1
First in ClinVar: Nov 20, 2023 Last updated: Nov 20, 2023 |
Comment:
The BRCA1 c.3587C>T variant is predicted to result in the amino acid substitution p.Thr1196Ile. This variant has been reported in individuals with breast and/or ovarian … (more)
The BRCA1 c.3587C>T variant is predicted to result in the amino acid substitution p.Thr1196Ile. This variant has been reported in individuals with breast and/or ovarian cancer (Table 2, Riahi et al. 2015. PubMed: 24372583; Table 4, Riahi et al. 2016. PubMed ID: 27211102; Table S5, Alhuqail et al. 2018. PubMed ID: 29297111; Table 4, Laraqui et al. 2021. PubMed ID: 34646395). This variant is reported in 1 of ~251,000 alleles in gnomAD (http://gnomad.broadinstitute.org/variant/17-41243961-G-A). It is interpreted as uncertain significance in ClinVar (https://preview.ncbi.nlm.nih.gov/clinvar/variation/54926/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. (less)
|
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Uncertain significance
(Feb 06, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV004242822.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
|
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Uncertain significance
(Jan 19, 2024)
|
criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000076255.9
First in ClinVar: Jul 03, 2013 Last updated: Feb 28, 2024 |
Comment:
This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1196 of the BRCA1 protein (p.Thr1196Ile). … (more)
This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1196 of the BRCA1 protein (p.Thr1196Ile). This variant is present in population databases (rs80356944, gnomAD 0.0009%). This missense change has been observed in individual(s) with breast and/or ovarian cancer (PMID: 24372583, 27211102, 29297111, 34646395, 35171259). ClinVar contains an entry for this variant (Variation ID: 54926). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
|
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Uncertain significance
(Aug 01, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV001249203.21
First in ClinVar: May 12, 2020 Last updated: May 12, 2024 |
Number of individuals with the variant: 1
|
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Uncertain significance
(Mar 31, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000296448.2
First in ClinVar: Apr 01, 2014 Last updated: Jan 03, 2022 |
Indication for testing: Hereditary breast and ovarian cancer syndrome (HBOC)
|
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Uncertain significance
(Mar 22, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000909298.4
First in ClinVar: May 20, 2019 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces threonine with isoleucine at codon 1196 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure … (more)
This missense variant replaces threonine with isoleucine at codon 1196 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in 5 individuals affected with breast or ovarian cancer (PMID: 24372583, 29297111, 34646395, 35402282). This variant has been identified in 1/250882 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Although there is a suspicion that this variant may be associated with disease, additional functional studies are necessary to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance (less)
|
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Uncertain Significance
(Aug 25, 2023)
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criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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All of Us Research Program, National Institutes of Health
Accession: SCV004817785.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
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Comment:
This missense variant replaces threonine with isoleucine at codon 1196 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure … (more)
This missense variant replaces threonine with isoleucine at codon 1196 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in 5 individuals affected with breast or ovarian cancer (PMID: 24372583, 29297111, 34646395, 35402282). This variant has been identified in 1/250882 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Although there is a suspicion that this variant may be associated with disease, additional functional studies are necessary to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance (less)
Number of individuals with the variant: 3
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Uncertain significance
(Mar 03, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000607830.5
First in ClinVar: Oct 23, 2017 Last updated: May 01, 2024 |
Comment:
The p.T1196I variant (also known as c.3587C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at nucleotide … (more)
The p.T1196I variant (also known as c.3587C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at nucleotide position 3587. The threonine at codon 1196 is replaced by isoleucine, an amino acid with similar properties. This variant was detected in one suspected-HBOC family from Tunisia (Riahi A et al, Clin. Genet. 2015 Feb; 87(2):155-60), in a cohort of 173 Arab breast and ovarian cancer patients (Alhuqail AJ et al. Breast Cancer Res Treat, 2018 Apr;168:695-702), and in a cohort of 30 Moroccan women with early onset triple negative breast cancer (Laraqui A et al. J Genomics, 2021 Sep;9:43-54). This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (less)
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Uncertain significance
(Nov 25, 2004)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
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Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144799.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Number of individuals with the variant: 1
Ethnicity/Population group: Western European, Central/Eastern European
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Uncertain significance
(May 05, 2023)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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KCCC/NGS Laboratory, Kuwait Cancer Control Center
Accession: SCV003927177.1
First in ClinVar: Jun 03, 2023 Last updated: Jun 03, 2023 |
Comment:
A variant of uncertain significance was detected in this sample , This sequence change replaces threonine with isoleucine at codon 1196 of the BRCA1 protein … (more)
A variant of uncertain significance was detected in this sample , This sequence change replaces threonine with isoleucine at codon 1196 of the BRCA1 protein (p.Thr1196Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (GenomAD). This missense change has been observed in individual(s) with breast and/or ovarian cancer (PMID: 24372583, 27211102, 29297111). ClinVar contains an entry for this variant (Variation ID: 54926). Ten ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as "uncertain significance.". In addition, this alteration is predicted to be tolerated by in silico analysis. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
Sex: female
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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 |
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Rates of Variants of Uncertain Significance Among Patients With Breast Cancer Undergoing Genetic Testing: Regional Perspectives. | Abdel-Razeq H | Frontiers in oncology | 2022 | PMID: 35402282 |
Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China. | Yin L | JAMA network open | 2022 | PMID: 35171259 |
Identification of a novel pathogenic variant in PALB2 and BARD1 genes by a multigene sequencing panel in triple negative breast cancer in Morocco. | Laraqui A | Journal of genomics | 2021 | PMID: 34646395 |
Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots". | Dines JN | Genetics in medicine : official journal of the American College of Medical Genetics | 2020 | PMID: 31911673 |
High prevalence of deleterious BRCA1 and BRCA2 germline mutations in arab breast and ovarian cancer patients. | Alhuqail AJ | Breast cancer research and treatment | 2018 | PMID: 29297111 |
Molecular characterization, homology modeling and docking studies of the R2787H missense variation in BRCA2 gene: Association with breast cancer. | Riahi A | Journal of theoretical biology | 2016 | PMID: 27211102 |
Mutation spectrum and prevalence of BRCA1 and BRCA2 genes in patients with familial and early-onset breast/ovarian cancer from Tunisia. | Riahi A | Clinical genetics | 2015 | PMID: 24372583 |
Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2. | Tram E | PloS one | 2013 | PMID: 23704879 |
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 |
The breast cancer information core: database design, structure, and scope. | Szabo C | Human mutation | 2000 | PMID: 10923033 |
Text-mined citations for rs80356944 ...
HelpRecord last updated Jun 10, 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.