ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3415AGT[1] (p.Ser1140del)
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(4); Likely benign(5)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.3415AGT[1] (p.Ser1140del)
Variation ID: 54876 Accession: VCV000054876.47
- Type and length
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Microsatellite, 3 bp
- Location
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Cytogenetic: 17q21.31 17: 43092111-43092113 (GRCh38) [ NCBI UCSC ] 17: 41244128-41244130 (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 Aug 11, 2024 May 30, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.3415AGT[1] MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ser1140del inframe deletion NM_007294.4:c.3418_3420del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NM_007294.4:c.3418_3420delAGT MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NM_001407571.1:c.3202AGT[1] NP_001394500.1:p.Ser1069del inframe deletion NM_001407581.1:c.3415AGT[1] NP_001394510.1:p.Ser1140del inframe deletion NM_001407582.1:c.3415AGT[1] NP_001394511.1:p.Ser1140del inframe deletion NM_001407583.1:c.3415AGT[1] NP_001394512.1:p.Ser1140del inframe deletion NM_001407585.1:c.3415AGT[1] NP_001394514.1:p.Ser1140del inframe deletion NM_001407587.1:c.3412AGT[1] NP_001394516.1:p.Ser1139del inframe deletion NM_001407590.1:c.3412AGT[1] NP_001394519.1:p.Ser1139del inframe deletion NM_001407591.1:c.3412AGT[1] NP_001394520.1:p.Ser1139del inframe deletion NM_001407593.1:c.3415AGT[1] NP_001394522.1:p.Ser1140del inframe deletion NM_001407594.1:c.3415AGT[1] NP_001394523.1:p.Ser1140del inframe deletion NM_001407596.1:c.3415AGT[1] NP_001394525.1:p.Ser1140del inframe deletion NM_001407597.1:c.3415AGT[1] NP_001394526.1:p.Ser1140del inframe deletion NM_001407598.1:c.3415AGT[1] NP_001394527.1:p.Ser1140del inframe deletion NM_001407602.1:c.3415AGT[1] NP_001394531.1:p.Ser1140del inframe deletion NM_001407603.1:c.3415AGT[1] NP_001394532.1:p.Ser1140del inframe deletion NM_001407605.1:c.3415AGT[1] NP_001394534.1:p.Ser1140del inframe deletion NM_001407610.1:c.3412AGT[1] NP_001394539.1:p.Ser1139del inframe deletion NM_001407611.1:c.3412AGT[1] NP_001394540.1:p.Ser1139del inframe deletion NM_001407612.1:c.3412AGT[1] NP_001394541.1:p.Ser1139del inframe deletion NM_001407613.1:c.3412AGT[1] NP_001394542.1:p.Ser1139del inframe deletion NM_001407614.1:c.3412AGT[1] NP_001394543.1:p.Ser1139del inframe deletion NM_001407615.1:c.3412AGT[1] NP_001394544.1:p.Ser1139del inframe deletion NM_001407616.1:c.3415AGT[1] NP_001394545.1:p.Ser1140del inframe deletion NM_001407617.1:c.3415AGT[1] NP_001394546.1:p.Ser1140del inframe deletion NM_001407618.1:c.3415AGT[1] NP_001394547.1:p.Ser1140del inframe deletion NM_001407619.1:c.3415AGT[1] NP_001394548.1:p.Ser1140del inframe deletion NM_001407620.1:c.3415AGT[1] NP_001394549.1:p.Ser1140del inframe deletion NM_001407621.1:c.3415AGT[1] NP_001394550.1:p.Ser1140del inframe deletion NM_001407622.1:c.3415AGT[1] NP_001394551.1:p.Ser1140del inframe deletion NM_001407623.1:c.3415AGT[1] NP_001394552.1:p.Ser1140del inframe deletion NM_001407624.1:c.3415AGT[1] NP_001394553.1:p.Ser1140del inframe deletion NM_001407625.1:c.3415AGT[1] NP_001394554.1:p.Ser1140del inframe deletion NM_001407626.1:c.3415AGT[1] NP_001394555.1:p.Ser1140del inframe deletion NM_001407627.1:c.3412AGT[1] NP_001394556.1:p.Ser1139del inframe deletion NM_001407628.1:c.3412AGT[1] NP_001394557.1:p.Ser1139del inframe deletion NM_001407629.1:c.3412AGT[1] NP_001394558.1:p.Ser1139del inframe deletion NM_001407630.1:c.3412AGT[1] NP_001394559.1:p.Ser1139del inframe deletion NM_001407631.1:c.3412AGT[1] NP_001394560.1:p.Ser1139del inframe deletion NM_001407632.1:c.3412AGT[1] NP_001394561.1:p.Ser1139del inframe deletion NM_001407633.1:c.3412AGT[1] NP_001394562.1:p.Ser1139del inframe deletion NM_001407634.1:c.3412AGT[1] NP_001394563.1:p.Ser1139del inframe deletion NM_001407635.1:c.3412AGT[1] NP_001394564.1:p.Ser1139del inframe deletion NM_001407636.1:c.3412AGT[1] NP_001394565.1:p.Ser1139del inframe deletion NM_001407637.1:c.3412AGT[1] NP_001394566.1:p.Ser1139del inframe deletion NM_001407638.1:c.3412AGT[1] NP_001394567.1:p.Ser1139del inframe deletion NM_001407639.1:c.3415AGT[1] NP_001394568.1:p.Ser1140del inframe deletion NM_001407640.1:c.3415AGT[1] NP_001394569.1:p.Ser1140del inframe deletion NM_001407641.1:c.3415AGT[1] NP_001394570.1:p.Ser1140del inframe deletion NM_001407642.1:c.3415AGT[1] NP_001394571.1:p.Ser1140del inframe deletion NM_001407644.1:c.3412AGT[1] NP_001394573.1:p.Ser1139del inframe deletion NM_001407645.1:c.3412AGT[1] NP_001394574.1:p.Ser1139del inframe deletion NM_001407646.1:c.3406AGT[1] NP_001394575.1:p.Ser1137del inframe deletion NM_001407647.1:c.3406AGT[1] NP_001394576.1:p.Ser1137del inframe deletion NM_001407648.1:c.3292AGT[1] NP_001394577.1:p.Ser1099del inframe deletion NM_001407649.1:c.3289AGT[1] NP_001394578.1:p.Ser1098del inframe deletion NM_001407652.1:c.3415AGT[1] NP_001394581.1:p.Ser1140del inframe deletion NM_001407653.1:c.3337AGT[1] NP_001394582.1:p.Ser1114del inframe deletion NM_001407654.1:c.3337AGT[1] NP_001394583.1:p.Ser1114del inframe deletion NM_001407655.1:c.3337AGT[1] NP_001394584.1:p.Ser1114del inframe deletion NM_001407656.1:c.3337AGT[1] NP_001394585.1:p.Ser1114del inframe deletion NM_001407657.1:c.3337AGT[1] NP_001394586.1:p.Ser1114del inframe deletion NM_001407658.1:c.3337AGT[1] NP_001394587.1:p.Ser1114del inframe deletion NM_001407659.1:c.3334AGT[1] NP_001394588.1:p.Ser1113del inframe deletion NM_001407660.1:c.3334AGT[1] NP_001394589.1:p.Ser1113del inframe deletion NM_001407661.1:c.3334AGT[1] NP_001394590.1:p.Ser1113del inframe deletion NM_001407662.1:c.3334AGT[1] NP_001394591.1:p.Ser1113del inframe deletion NM_001407663.1:c.3337AGT[1] NP_001394592.1:p.Ser1114del inframe deletion NM_001407664.1:c.3292AGT[1] NP_001394593.1:p.Ser1099del inframe deletion NM_001407665.1:c.3292AGT[1] NP_001394594.1:p.Ser1099del inframe deletion NM_001407666.1:c.3292AGT[1] NP_001394595.1:p.Ser1099del inframe deletion NM_001407667.1:c.3292AGT[1] NP_001394596.1:p.Ser1099del inframe deletion NM_001407668.1:c.3292AGT[1] NP_001394597.1:p.Ser1099del inframe deletion NM_001407669.1:c.3292AGT[1] NP_001394598.1:p.Ser1099del inframe deletion NM_001407670.1:c.3289AGT[1] NP_001394599.1:p.Ser1098del inframe deletion NM_001407671.1:c.3289AGT[1] NP_001394600.1:p.Ser1098del inframe deletion NM_001407672.1:c.3289AGT[1] NP_001394601.1:p.Ser1098del inframe deletion NM_001407673.1:c.3289AGT[1] NP_001394602.1:p.Ser1098del inframe deletion NM_001407674.1:c.3292AGT[1] NP_001394603.1:p.Ser1099del inframe deletion NM_001407675.1:c.3292AGT[1] NP_001394604.1:p.Ser1099del inframe deletion NM_001407676.1:c.3292AGT[1] NP_001394605.1:p.Ser1099del inframe deletion NM_001407677.1:c.3292AGT[1] NP_001394606.1:p.Ser1099del inframe deletion NM_001407678.1:c.3292AGT[1] NP_001394607.1:p.Ser1099del inframe deletion NM_001407679.1:c.3292AGT[1] NP_001394608.1:p.Ser1099del inframe deletion NM_001407680.1:c.3292AGT[1] NP_001394609.1:p.Ser1099del inframe deletion NM_001407681.1:c.3292AGT[1] NP_001394610.1:p.Ser1099del inframe deletion NM_001407682.1:c.3292AGT[1] NP_001394611.1:p.Ser1099del inframe deletion NM_001407683.1:c.3292AGT[1] NP_001394612.1:p.Ser1099del inframe deletion NM_001407684.1:c.3415AGT[1] NP_001394613.1:p.Ser1140del inframe deletion NM_001407685.1:c.3289AGT[1] NP_001394614.1:p.Ser1098del inframe deletion NM_001407686.1:c.3289AGT[1] NP_001394615.1:p.Ser1098del inframe deletion NM_001407687.1:c.3289AGT[1] NP_001394616.1:p.Ser1098del inframe deletion NM_001407688.1:c.3289AGT[1] NP_001394617.1:p.Ser1098del inframe deletion NM_001407689.1:c.3289AGT[1] NP_001394618.1:p.Ser1098del inframe deletion NM_001407690.1:c.3289AGT[1] NP_001394619.1:p.Ser1098del inframe deletion NM_001407691.1:c.3289AGT[1] NP_001394620.1:p.Ser1098del inframe deletion NM_001407692.1:c.3274AGT[1] NP_001394621.1:p.Ser1093del inframe deletion NM_001407694.1:c.3274AGT[1] NP_001394623.1:p.Ser1093del inframe deletion NM_001407695.1:c.3274AGT[1] NP_001394624.1:p.Ser1093del inframe deletion NM_001407696.1:c.3274AGT[1] NP_001394625.1:p.Ser1093del inframe deletion NM_001407697.1:c.3274AGT[1] NP_001394626.1:p.Ser1093del inframe deletion NM_001407698.1:c.3274AGT[1] NP_001394627.1:p.Ser1093del inframe deletion NM_001407724.1:c.3274AGT[1] NP_001394653.1:p.Ser1093del inframe deletion NM_001407725.1:c.3274AGT[1] NP_001394654.1:p.Ser1093del inframe deletion NM_001407726.1:c.3274AGT[1] NP_001394655.1:p.Ser1093del inframe deletion NM_001407727.1:c.3274AGT[1] NP_001394656.1:p.Ser1093del inframe deletion NM_001407728.1:c.3274AGT[1] NP_001394657.1:p.Ser1093del inframe deletion NM_001407729.1:c.3274AGT[1] NP_001394658.1:p.Ser1093del inframe deletion NM_001407730.1:c.3274AGT[1] NP_001394659.1:p.Ser1093del inframe deletion NM_001407731.1:c.3274AGT[1] NP_001394660.1:p.Ser1093del inframe deletion NM_001407732.1:c.3274AGT[1] NP_001394661.1:p.Ser1093del inframe deletion NM_001407733.1:c.3274AGT[1] NP_001394662.1:p.Ser1093del inframe deletion NM_001407734.1:c.3274AGT[1] NP_001394663.1:p.Ser1093del inframe deletion NM_001407735.1:c.3274AGT[1] NP_001394664.1:p.Ser1093del inframe deletion NM_001407736.1:c.3274AGT[1] NP_001394665.1:p.Ser1093del inframe deletion NM_001407737.1:c.3274AGT[1] NP_001394666.1:p.Ser1093del inframe deletion NM_001407738.1:c.3274AGT[1] NP_001394667.1:p.Ser1093del inframe deletion NM_001407739.1:c.3274AGT[1] NP_001394668.1:p.Ser1093del inframe deletion NM_001407740.1:c.3271AGT[1] NP_001394669.1:p.Ser1092del inframe deletion NM_001407741.1:c.3271AGT[1] NP_001394670.1:p.Ser1092del inframe deletion NM_001407742.1:c.3271AGT[1] NP_001394671.1:p.Ser1092del inframe deletion NM_001407743.1:c.3271AGT[1] NP_001394672.1:p.Ser1092del inframe deletion NM_001407744.1:c.3271AGT[1] NP_001394673.1:p.Ser1092del inframe deletion NM_001407745.1:c.3271AGT[1] NP_001394674.1:p.Ser1092del inframe deletion NM_001407746.1:c.3271AGT[1] NP_001394675.1:p.Ser1092del inframe deletion NM_001407747.1:c.3271AGT[1] NP_001394676.1:p.Ser1092del inframe deletion NM_001407748.1:c.3271AGT[1] NP_001394677.1:p.Ser1092del inframe deletion NM_001407749.1:c.3271AGT[1] NP_001394678.1:p.Ser1092del inframe deletion NM_001407750.1:c.3274AGT[1] NP_001394679.1:p.Ser1093del inframe deletion NM_001407751.1:c.3274AGT[1] NP_001394680.1:p.Ser1093del inframe deletion NM_001407752.1:c.3274AGT[1] NP_001394681.1:p.Ser1093del inframe deletion NM_001407838.1:c.3271AGT[1] NP_001394767.1:p.Ser1092del inframe deletion NM_001407839.1:c.3271AGT[1] NP_001394768.1:p.Ser1092del inframe deletion NM_001407841.1:c.3271AGT[1] NP_001394770.1:p.Ser1092del inframe deletion NM_001407842.1:c.3271AGT[1] NP_001394771.1:p.Ser1092del inframe deletion NM_001407843.1:c.3271AGT[1] NP_001394772.1:p.Ser1092del inframe deletion NM_001407844.1:c.3271AGT[1] NP_001394773.1:p.Ser1092del inframe deletion NM_001407845.1:c.3271AGT[1] NP_001394774.1:p.Ser1092del inframe deletion NM_001407846.1:c.3271AGT[1] NP_001394775.1:p.Ser1092del inframe deletion NM_001407847.1:c.3271AGT[1] NP_001394776.1:p.Ser1092del inframe deletion NM_001407848.1:c.3271AGT[1] NP_001394777.1:p.Ser1092del inframe deletion NM_001407849.1:c.3271AGT[1] NP_001394778.1:p.Ser1092del inframe deletion NM_001407850.1:c.3274AGT[1] NP_001394779.1:p.Ser1093del inframe deletion NM_001407851.1:c.3274AGT[1] NP_001394780.1:p.Ser1093del inframe deletion NM_001407852.1:c.3274AGT[1] NP_001394781.1:p.Ser1093del inframe deletion NM_001407853.1:c.3202AGT[1] NP_001394782.1:p.Ser1069del inframe deletion NM_001407854.1:c.3415AGT[1] NP_001394783.1:p.Ser1140del inframe deletion NM_001407858.1:c.3415AGT[1] NP_001394787.1:p.Ser1140del inframe deletion NM_001407859.1:c.3415AGT[1] NP_001394788.1:p.Ser1140del inframe deletion NM_001407860.1:c.3412AGT[1] NP_001394789.1:p.Ser1139del inframe deletion NM_001407861.1:c.3412AGT[1] NP_001394790.1:p.Ser1139del inframe deletion NM_001407862.1:c.3214AGT[1] NP_001394791.1:p.Ser1073del inframe deletion NM_001407863.1:c.3292AGT[1] NP_001394792.1:p.Ser1099del inframe deletion NM_001407874.1:c.3211AGT[1] NP_001394803.1:p.Ser1072del inframe deletion NM_001407875.1:c.3211AGT[1] NP_001394804.1:p.Ser1072del inframe deletion NM_001407879.1:c.3205AGT[1] NP_001394808.1:p.Ser1070del inframe deletion NM_001407881.1:c.3205AGT[1] NP_001394810.1:p.Ser1070del inframe deletion NM_001407882.1:c.3205AGT[1] NP_001394811.1:p.Ser1070del inframe deletion NM_001407884.1:c.3205AGT[1] NP_001394813.1:p.Ser1070del inframe deletion NM_001407885.1:c.3205AGT[1] NP_001394814.1:p.Ser1070del inframe deletion NM_001407886.1:c.3205AGT[1] NP_001394815.1:p.Ser1070del inframe deletion NM_001407887.1:c.3205AGT[1] NP_001394816.1:p.Ser1070del inframe deletion NM_001407889.1:c.3205AGT[1] NP_001394818.1:p.Ser1070del inframe deletion NM_001407894.1:c.3202AGT[1] NP_001394823.1:p.Ser1069del inframe deletion NM_001407895.1:c.3202AGT[1] NP_001394824.1:p.Ser1069del inframe deletion NM_001407896.1:c.3202AGT[1] NP_001394825.1:p.Ser1069del inframe deletion NM_001407897.1:c.3202AGT[1] NP_001394826.1:p.Ser1069del inframe deletion NM_001407898.1:c.3202AGT[1] NP_001394827.1:p.Ser1069del inframe deletion NM_001407899.1:c.3202AGT[1] NP_001394828.1:p.Ser1069del inframe deletion NM_001407900.1:c.3205AGT[1] NP_001394829.1:p.Ser1070del inframe deletion NM_001407902.1:c.3205AGT[1] NP_001394831.1:p.Ser1070del inframe deletion NM_001407904.1:c.3205AGT[1] NP_001394833.1:p.Ser1070del inframe deletion NM_001407906.1:c.3205AGT[1] NP_001394835.1:p.Ser1070del inframe deletion NM_001407907.1:c.3205AGT[1] NP_001394836.1:p.Ser1070del inframe deletion NM_001407908.1:c.3205AGT[1] NP_001394837.1:p.Ser1070del inframe deletion NM_001407909.1:c.3205AGT[1] NP_001394838.1:p.Ser1070del inframe deletion NM_001407910.1:c.3205AGT[1] NP_001394839.1:p.Ser1070del inframe deletion NM_001407915.1:c.3202AGT[1] NP_001394844.1:p.Ser1069del inframe deletion NM_001407916.1:c.3202AGT[1] NP_001394845.1:p.Ser1069del inframe deletion NM_001407917.1:c.3202AGT[1] NP_001394846.1:p.Ser1069del inframe deletion NM_001407918.1:c.3202AGT[1] NP_001394847.1:p.Ser1069del inframe deletion NM_001407919.1:c.3292AGT[1] NP_001394848.1:p.Ser1099del inframe deletion NM_001407920.1:c.3151AGT[1] NP_001394849.1:p.Ser1052del inframe deletion NM_001407921.1:c.3151AGT[1] NP_001394850.1:p.Ser1052del inframe deletion NM_001407922.1:c.3151AGT[1] NP_001394851.1:p.Ser1052del inframe deletion NM_001407923.1:c.3151AGT[1] NP_001394852.1:p.Ser1052del inframe deletion NM_001407924.1:c.3151AGT[1] NP_001394853.1:p.Ser1052del inframe deletion NM_001407925.1:c.3151AGT[1] NP_001394854.1:p.Ser1052del inframe deletion NM_001407926.1:c.3151AGT[1] NP_001394855.1:p.Ser1052del inframe deletion NM_001407927.1:c.3151AGT[1] NP_001394856.1:p.Ser1052del inframe deletion NM_001407928.1:c.3151AGT[1] NP_001394857.1:p.Ser1052del inframe deletion NM_001407929.1:c.3151AGT[1] NP_001394858.1:p.Ser1052del inframe deletion NM_001407930.1:c.3148AGT[1] NP_001394859.1:p.Ser1051del inframe deletion NM_001407931.1:c.3148AGT[1] NP_001394860.1:p.Ser1051del inframe deletion NM_001407932.1:c.3148AGT[1] NP_001394861.1:p.Ser1051del inframe deletion NM_001407933.1:c.3151AGT[1] NP_001394862.1:p.Ser1052del inframe deletion NM_001407934.1:c.3148AGT[1] NP_001394863.1:p.Ser1051del inframe deletion NM_001407935.1:c.3151AGT[1] NP_001394864.1:p.Ser1052del inframe deletion NM_001407936.1:c.3148AGT[1] NP_001394865.1:p.Ser1051del inframe deletion NM_001407937.1:c.3292AGT[1] NP_001394866.1:p.Ser1099del inframe deletion NM_001407938.1:c.3292AGT[1] NP_001394867.1:p.Ser1099del inframe deletion NM_001407939.1:c.3292AGT[1] NP_001394868.1:p.Ser1099del inframe deletion NM_001407940.1:c.3289AGT[1] NP_001394869.1:p.Ser1098del inframe deletion NM_001407941.1:c.3289AGT[1] NP_001394870.1:p.Ser1098del inframe deletion NM_001407942.1:c.3274AGT[1] NP_001394871.1:p.Ser1093del inframe deletion NM_001407943.1:c.3271AGT[1] NP_001394872.1:p.Ser1092del inframe deletion NM_001407944.1:c.3274AGT[1] NP_001394873.1:p.Ser1093del inframe deletion NM_001407945.1:c.3274AGT[1] NP_001394874.1:p.Ser1093del inframe deletion NM_001407946.1:c.3082AGT[1] NP_001394875.1:p.Ser1029del inframe deletion NM_001407947.1:c.3082AGT[1] NP_001394876.1:p.Ser1029del inframe deletion NM_001407948.1:c.3082AGT[1] NP_001394877.1:p.Ser1029del inframe deletion NM_001407949.1:c.3082AGT[1] NP_001394878.1:p.Ser1029del inframe deletion NM_001407950.1:c.3082AGT[1] NP_001394879.1:p.Ser1029del inframe deletion NM_001407951.1:c.3082AGT[1] NP_001394880.1:p.Ser1029del inframe deletion NM_001407952.1:c.3082AGT[1] NP_001394881.1:p.Ser1029del inframe deletion NM_001407953.1:c.3082AGT[1] NP_001394882.1:p.Ser1029del inframe deletion NM_001407954.1:c.3079AGT[1] NP_001394883.1:p.Ser1028del inframe deletion NM_001407955.1:c.3079AGT[1] NP_001394884.1:p.Ser1028del inframe deletion NM_001407956.1:c.3079AGT[1] NP_001394885.1:p.Ser1028del inframe deletion NM_001407957.1:c.3082AGT[1] NP_001394886.1:p.Ser1029del inframe deletion NM_001407958.1:c.3079AGT[1] NP_001394887.1:p.Ser1028del inframe deletion NM_001407959.1:c.3034AGT[1] NP_001394888.1:p.Ser1013del inframe deletion NM_001407960.1:c.3034AGT[1] NP_001394889.1:p.Ser1013del inframe deletion NM_001407962.1:c.3031AGT[1] NP_001394891.1:p.Ser1012del inframe deletion NM_001407963.1:c.3034AGT[1] NP_001394892.1:p.Ser1013del inframe deletion NM_001407964.1:c.3271AGT[1] NP_001394893.1:p.Ser1092del inframe deletion NM_001407965.1:c.2911AGT[1] NP_001394894.1:p.Ser972del inframe deletion NM_001407966.1:c.2527AGT[1] NP_001394895.1:p.Ser844del inframe deletion NM_001407967.1:c.2527AGT[1] NP_001394896.1:p.Ser844del inframe deletion NM_001407968.1:c.811AGT[1] NP_001394897.1:p.Ser272del inframe deletion NM_001407969.1:c.811AGT[1] NP_001394898.1:p.Ser272del inframe deletion NM_001407970.1:c.788-1081_788-1079del intron variant NM_001407971.1:c.788-1081_788-1079del intron variant NM_001407972.1:c.785-1081_785-1079del intron variant NM_001407973.1:c.788-1081_788-1079del intron variant NM_001407974.1:c.788-1081_788-1079del intron variant NM_001407975.1:c.788-1081_788-1079del intron variant NM_001407976.1:c.788-1081_788-1079del intron variant NM_001407977.1:c.788-1081_788-1079del intron variant NM_001407978.1:c.788-1081_788-1079del intron variant NM_001407979.1:c.788-1081_788-1079del intron variant NM_001407980.1:c.788-1081_788-1079del intron variant NM_001407981.1:c.788-1081_788-1079del intron variant NM_001407982.1:c.788-1081_788-1079del intron variant NM_001407983.1:c.788-1081_788-1079del intron variant NM_001407984.1:c.785-1081_785-1079del intron variant NM_001407985.1:c.785-1081_785-1079del intron variant NM_001407986.1:c.785-1081_785-1079del intron variant NM_001407990.1:c.788-1081_788-1079del intron variant NM_001407991.1:c.785-1081_785-1079del intron variant NM_001407992.1:c.785-1081_785-1079del intron variant NM_001407993.1:c.788-1081_788-1079del intron variant NM_001408392.1:c.785-1081_785-1079del intron variant NM_001408396.1:c.785-1081_785-1079del intron variant NM_001408397.1:c.785-1081_785-1079del intron variant NM_001408398.1:c.785-1081_785-1079del intron variant NM_001408399.1:c.785-1081_785-1079del intron variant NM_001408400.1:c.785-1081_785-1079del intron variant NM_001408401.1:c.785-1081_785-1079del intron variant NM_001408402.1:c.785-1081_785-1079del intron variant NM_001408403.1:c.788-1081_788-1079del intron variant NM_001408404.1:c.788-1081_788-1079del intron variant NM_001408406.1:c.791-1090_791-1088del intron variant NM_001408407.1:c.785-1081_785-1079del intron variant NM_001408408.1:c.779-1081_779-1079del intron variant NM_001408409.1:c.710-1081_710-1079del intron variant NM_001408410.1:c.647-1081_647-1079del intron variant NM_001408411.1:c.710-1081_710-1079del intron variant NM_001408412.1:c.710-1081_710-1079del intron variant NM_001408413.1:c.707-1081_707-1079del intron variant NM_001408414.1:c.710-1081_710-1079del intron variant NM_001408415.1:c.710-1081_710-1079del intron variant NM_001408416.1:c.707-1081_707-1079del intron variant NM_001408418.1:c.671-1081_671-1079del intron variant NM_001408419.1:c.671-1081_671-1079del intron variant NM_001408420.1:c.671-1081_671-1079del intron variant NM_001408421.1:c.668-1081_668-1079del intron variant NM_001408422.1:c.671-1081_671-1079del intron variant NM_001408423.1:c.671-1081_671-1079del intron variant NM_001408424.1:c.668-1081_668-1079del intron variant NM_001408425.1:c.665-1081_665-1079del intron variant NM_001408426.1:c.665-1081_665-1079del intron variant NM_001408427.1:c.665-1081_665-1079del intron variant NM_001408428.1:c.665-1081_665-1079del intron variant NM_001408429.1:c.665-1081_665-1079del intron variant NM_001408430.1:c.665-1081_665-1079del intron variant NM_001408431.1:c.668-1081_668-1079del intron variant NM_001408432.1:c.662-1081_662-1079del intron variant NM_001408433.1:c.662-1081_662-1079del intron variant NM_001408434.1:c.662-1081_662-1079del intron variant NM_001408435.1:c.662-1081_662-1079del intron variant NM_001408436.1:c.665-1081_665-1079del intron variant NM_001408437.1:c.665-1081_665-1079del intron variant NM_001408438.1:c.665-1081_665-1079del intron variant NM_001408439.1:c.665-1081_665-1079del intron variant NM_001408440.1:c.665-1081_665-1079del intron variant NM_001408441.1:c.665-1081_665-1079del intron variant NM_001408442.1:c.665-1081_665-1079del intron variant NM_001408443.1:c.665-1081_665-1079del intron variant NM_001408444.1:c.665-1081_665-1079del intron variant NM_001408445.1:c.662-1081_662-1079del intron variant NM_001408446.1:c.662-1081_662-1079del intron variant NM_001408447.1:c.662-1081_662-1079del intron variant NM_001408448.1:c.662-1081_662-1079del intron variant NM_001408450.1:c.662-1081_662-1079del intron variant NM_001408451.1:c.653-1081_653-1079del intron variant NM_001408452.1:c.647-1081_647-1079del intron variant NM_001408453.1:c.647-1081_647-1079del intron variant NM_001408454.1:c.647-1081_647-1079del intron variant NM_001408455.1:c.647-1081_647-1079del intron variant NM_001408456.1:c.647-1081_647-1079del intron variant NM_001408457.1:c.647-1081_647-1079del intron variant NM_001408458.1:c.647-1081_647-1079del intron variant NM_001408459.1:c.647-1081_647-1079del intron variant NM_001408460.1:c.647-1081_647-1079del intron variant NM_001408461.1:c.647-1081_647-1079del intron variant NM_001408462.1:c.644-1081_644-1079del intron variant NM_001408463.1:c.644-1081_644-1079del intron variant NM_001408464.1:c.644-1081_644-1079del intron variant NM_001408465.1:c.644-1081_644-1079del intron variant NM_001408466.1:c.647-1081_647-1079del intron variant NM_001408467.1:c.647-1081_647-1079del intron variant NM_001408468.1:c.644-1081_644-1079del intron variant NM_001408469.1:c.647-1081_647-1079del intron variant NM_001408470.1:c.644-1081_644-1079del intron variant NM_001408472.1:c.788-1081_788-1079del intron variant NM_001408473.1:c.785-1081_785-1079del intron variant NM_001408474.1:c.587-1081_587-1079del intron variant NM_001408475.1:c.584-1081_584-1079del intron variant NM_001408476.1:c.587-1081_587-1079del intron variant NM_001408478.1:c.578-1081_578-1079del intron variant NM_001408479.1:c.578-1081_578-1079del intron variant NM_001408480.1:c.578-1081_578-1079del intron variant NM_001408481.1:c.578-1081_578-1079del intron variant NM_001408482.1:c.578-1081_578-1079del intron variant NM_001408483.1:c.578-1081_578-1079del intron variant NM_001408484.1:c.578-1081_578-1079del intron variant NM_001408485.1:c.578-1081_578-1079del intron variant NM_001408489.1:c.578-1081_578-1079del intron variant NM_001408490.1:c.575-1081_575-1079del intron variant NM_001408491.1:c.575-1081_575-1079del intron variant NM_001408492.1:c.578-1081_578-1079del intron variant NM_001408493.1:c.575-1081_575-1079del intron variant NM_001408494.1:c.548-1081_548-1079del intron variant NM_001408495.1:c.545-1081_545-1079del intron variant NM_001408496.1:c.524-1081_524-1079del intron variant NM_001408497.1:c.524-1081_524-1079del intron variant NM_001408498.1:c.524-1081_524-1079del intron variant NM_001408499.1:c.524-1081_524-1079del intron variant NM_001408500.1:c.524-1081_524-1079del intron variant NM_001408501.1:c.524-1081_524-1079del intron variant NM_001408502.1:c.455-1081_455-1079del intron variant NM_001408503.1:c.521-1081_521-1079del intron variant NM_001408504.1:c.521-1081_521-1079del intron variant NM_001408505.1:c.521-1081_521-1079del intron variant NM_001408506.1:c.461-1081_461-1079del intron variant NM_001408507.1:c.461-1081_461-1079del intron variant NM_001408508.1:c.452-1081_452-1079del intron variant NM_001408509.1:c.452-1081_452-1079del intron variant NM_001408510.1:c.407-1081_407-1079del intron variant NM_001408511.1:c.404-1081_404-1079del intron variant NM_001408512.1:c.284-1081_284-1079del intron variant NM_001408513.1:c.578-1081_578-1079del intron variant NM_001408514.1:c.578-1081_578-1079del intron variant NM_007294.3:c.3418_3420del inframe indel NM_007294.3:c.3418_3420delAGT inframe indel NM_007297.4:c.3274AGT[1] NP_009228.2:p.Ser1093del inframe deletion NM_007298.4:c.788-1081_788-1079del intron variant NM_007299.4:c.788-1081_788-1079del intron variant NM_007300.4:c.3415AGT[1] NP_009231.2:p.Ser1140del inframe deletion NR_027676.1:n.3551_3553AGT[1] NC_000017.11:g.43092111ACT[1] NC_000017.10:g.41244128ACT[1] NG_005905.2:g.125868AGT[1] NG_087068.1:g.1093ACT[1] LRG_292:g.125868AGT[1] LRG_292t1:c.3415_3417AGT[1] LRG_292p1:p.Ser1140del U14680.1:n.3537_3539delAGT - Protein change
- S1140del, S1093del, S1028del, S1029del, S1051del, S1070del, S1092del, S1098del, S1114del, S1013del, S1052del, S1069del, S1113del, S1137del, S272del, S844del, S1099del, S1139del, S1012del, S1072del, S1073del, S972del
- Other names
- -
- Canonical SPDI
- NC_000017.11:43092110:ACTACT:ACT
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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.
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-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
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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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Likely benign (2) |
criteria provided, multiple submitters, no conflicts
|
May 30, 2024 | RCV000048188.13 | |
Uncertain significance (4) |
criteria provided, multiple submitters, no conflicts
|
Jan 1, 2019 | RCV000112093.6 | |
Conflicting interpretations of pathogenicity (3) |
criteria provided, conflicting classifications
|
Mar 15, 2022 | RCV000131331.13 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Aug 4, 2020 | RCV000203658.17 | |
Likely benign (1) |
criteria provided, single submitter
|
Jan 11, 2024 | RCV001084973.7 | |
Uncertain significance (1) |
no assertion criteria provided
|
- | RCV001355449.3 |
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
(Mar 15, 2022)
|
criteria provided, single submitter
Method: curation
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Sema4, Sema4
Accession: SCV002538205.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022
Comment:
The BRCA1 c.3418_3420delAGT (p.S1140del) variant has been reported in one individual with cutaneous malignant melanoma and one individual with breast cancer who had another deleterious … (more)
The BRCA1 c.3418_3420delAGT (p.S1140del) variant has been reported in one individual with cutaneous malignant melanoma and one individual with breast cancer who had another deleterious variant in BRCA1 (PMID 16267036, 29036293). This variant causes in-frame deletion of a serine residue at position 1140 of the BRCA1 protein. This variant was observed in 6/129040 chromosomes of the non-Finnish European population in the Genome Aggregation Database (http://gnomad.broadinstitute.org, PMID 32461654). The variant has been reported in ClinVar (Variation ID 54876). Functional studies have not been performed, and in silico predictions of the variant's effect on protein function are not available. A missense change at the deleted serine residue (c.3419G>T, p.S1140I) has been reported in both individuals with breast cancer and healthy controls tested for BRCA1/2 variants (PMID 25896959, 30702160, 30287823), and it is uncertain whether this serine residue is essential for normal protein function. The evidence is insufficient to meet ACMG/AMP criteria for classifying the p.S1140del variant as benign or pathogenic. Based on the current evidence available, this variant is interpreted as a variant of uncertain significance. (less)
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Likely benign
(Jul 29, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000683102.2
First in ClinVar: Feb 19, 2018 Last updated: Dec 11, 2022 |
|
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Likely benign
(Jan 11, 2024)
|
criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000076201.13
First in ClinVar: Jul 03, 2013 Last updated: Feb 28, 2024 |
|
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Likely benign
(Jan 25, 2018)
|
criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000209953.6
First in ClinVar: Feb 24, 2015 Last updated: Apr 09, 2018 |
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. (less)
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Uncertain significance
(Jan 01, 2019)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
unknown
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Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV001440669.1
First in ClinVar: Oct 31, 2020 Last updated: Oct 31, 2020 |
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Uncertain significance
(Aug 04, 2020)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001469380.1
First in ClinVar: Jan 26, 2021 Last updated: Jan 26, 2021 |
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Uncertain significance
(Jun 14, 2016)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000488758.2
First in ClinVar: Apr 01, 2014 Last updated: Dec 24, 2022 |
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Likely benign
(Jul 25, 2018)
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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: SCV000186305.7
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
(May 30, 2024)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000699031.5
First in ClinVar: Mar 17, 2018 Last updated: Aug 11, 2024 |
Comment:
Variant summary: BRCA1 c.3418_3420delAGT (p.Ser1140del) results in an in-frame deletion that is predicted to remove one amino acid from the encoded protein. The variant allele … (more)
Variant summary: BRCA1 c.3418_3420delAGT (p.Ser1140del) results in an in-frame deletion that is predicted to remove one amino acid from the encoded protein. The variant allele was found at a frequency of 1.4e-05 in 1613928 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in BRCA1 causing Hereditary Breast And Ovarian Cancer Syndrome (1.4e-05 vs 0.001), allowing no conclusion about variant significance. c.3418_3420delAGT has been reported in the literature as a VUS in individual(s) affected with- or at risk for Hereditary Breast and Ovarian Cancer (Judkins 2005). Furthermore, it has been reported in a family affected with cutaneous malignant melanoma, where it was determined not to co-segregate with the disease (Goldstein 2017). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. At-least one co-occurrence with another pathogenic variant(s) has been reported in the BIC database (BRCA1 c.5263_5264insC, p.Ser1755?fs), providing supporting evidence for a benign role. At least one publication reports experimental evidence evaluating an impact on protein function (Bouwman_2020). These results showed no damaging effect of this variant on Homologous recombination DNA repair (HRR) by their ability to complement Brca1-deficient mouse embryonic stem cells in HRR, using cisplatin and olaparib sensitivity assays and a direct repeat GFP (DR-GFP) HRR assay. HDR assays qualify as a recognized gold standard on the basis of updated guidance provided by the ClinGen Sequence Variant Interpretation (SVI) working group. This working group has recommended strong functional evidence (ACMG BS3) as sufficient weightage for categorization as likely benign (Tavtigian_2018). The following publications have been ascertained in the context of this evaluation (PMID: 16267036, 19941162, 29036293, 32546644). ClinVar contains an entry for this variant (Variation ID: 54876). Based on the evidence outlined above, the variant was classified as likely benign. (less)
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Benign
(Sep 01, 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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Department of Medical and Surgical Sciences, University of Bologna
Accession: SCV004228348.1
First in ClinVar: Jan 26, 2024 Last updated: Jan 26, 2024 |
Comment:
BS3(Strong)+BP1(Strong) according to ACMG/AMP classification guidelines specified for BRCA1 & BRCA2 (Classification Criteria V1.0.0 2023-09-08 - https://cspec.genome.network/cspec/ui/svi/affiliation/50087) (PMID: 38160042)
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Uncertain significance
(Feb 20, 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: SCV000144759.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 1
Observation 2:
Number of individuals with the variant: 2
Ethnicity/Population group: Western European
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Uncertain significance
(-)
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no assertion criteria provided
Method: clinical testing
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Malignant tumor of breast
Affected status: yes
Allele origin:
unknown
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Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001550335.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
The BRCA1 p.Ser1140del variant was not identified in the GeneInsight-COGR, Cosmic, MutDB, ARUP Laboratories, Zhejiang Colon Cancer Database, databases. The variant was identified in dbSNP … (more)
The BRCA1 p.Ser1140del variant was not identified in the GeneInsight-COGR, Cosmic, MutDB, ARUP Laboratories, Zhejiang Colon Cancer Database, databases. The variant was identified in dbSNP (ID: rs80358337) as “With Uncertain significance allele”; in ClinVar as likely benign by Invitae, Ambry Genetics and GeneDx, and with uncertain Significance by Counsyl and Breast Cancer Information Core. The variant was further identified in LOVD 3.0 4X with unknown significance, in UMD-LSDB database 3X as UV with no co-occurrence, in BIC Database 3X with unknown clinical significance with pending clinical classification. The variant was not identified in the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project or the Exome Aggregation Consortium (August 8th 2016) control databases. The p.Ser1140del variant has been found to reside in trans with known deleterious mutations. Functional studies of transgenic mice support the hypothesis that biallelic BRCA1 result in embryonic lethality. Therefore, it may be concluded that variants of unknown significance residing in trans with known deleterious mutations impart reduced risk for cancer (Judkins 2005). This variant is an in-frame deletion resulting in the removal of a serine residue at codon 1140; the impact of this alteration on BRCA1 protein function is not known. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. The variant is located with the Breast cancer type 1 susceptibility protein BRCA1 functional domain increasing the likelihood that it may have clinical significance. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance. (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 |
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Functional Categorization of BRCA1 Variants of Uncertain Clinical Significance in Homologous Recombination Repair Complementation Assays. | Bouwman P | Clinical cancer research : an official journal of the American Association for Cancer Research | 2020 | PMID: 32546644 |
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients. | Bhaskaran SP | International journal of cancer | 2019 | PMID: 30702160 |
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls. | Momozawa Y | Nature communications | 2018 | PMID: 30287823 |
Rare germline variants in known melanoma susceptibility genes in familial melanoma. | Goldstein AM | Human molecular genetics | 2017 | PMID: 29036293 |
The molecular analysis of BRCA1 and BRCA2: Next-generation sequencing supersedes conventional approaches. | D'Argenio V | Clinica chimica acta; international journal of clinical chemistry | 2015 | PMID: 25896959 |
High-throughput resequencing in the diagnosis of BRCA1/2 mutations using oligonucleotide resequencing microarrays. | Schroeder C | Breast cancer research and treatment | 2010 | PMID: 19941162 |
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. | Judkins T | Cancer research | 2005 | PMID: 16267036 |
The breast cancer information core: database design, structure, and scope. | Szabo C | Human mutation | 2000 | PMID: 10923033 |
Text-mined citations for rs80358337 ...
HelpRecord last updated Oct 08, 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.