ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly)
Variation ID: 41817 Accession: VCV000041817.96
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43092113 (GRCh38) [ NCBI UCSC ] 17: 41244130 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 12, 2013 Jun 17, 2024 Jun 11, 2024 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.3418A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ser1140Gly missense NM_001407571.1:c.3205A>G NP_001394500.1:p.Ser1069Gly missense NM_001407581.1:c.3418A>G NP_001394510.1:p.Ser1140Gly missense NM_001407582.1:c.3418A>G NP_001394511.1:p.Ser1140Gly missense NM_001407583.1:c.3418A>G NP_001394512.1:p.Ser1140Gly missense NM_001407585.1:c.3418A>G NP_001394514.1:p.Ser1140Gly missense NM_001407587.1:c.3415A>G NP_001394516.1:p.Ser1139Gly missense NM_001407590.1:c.3415A>G NP_001394519.1:p.Ser1139Gly missense NM_001407591.1:c.3415A>G NP_001394520.1:p.Ser1139Gly missense NM_001407593.1:c.3418A>G NP_001394522.1:p.Ser1140Gly missense NM_001407594.1:c.3418A>G NP_001394523.1:p.Ser1140Gly missense NM_001407596.1:c.3418A>G NP_001394525.1:p.Ser1140Gly missense NM_001407597.1:c.3418A>G NP_001394526.1:p.Ser1140Gly missense NM_001407598.1:c.3418A>G NP_001394527.1:p.Ser1140Gly missense NM_001407602.1:c.3418A>G NP_001394531.1:p.Ser1140Gly missense NM_001407603.1:c.3418A>G NP_001394532.1:p.Ser1140Gly missense NM_001407605.1:c.3418A>G NP_001394534.1:p.Ser1140Gly missense NM_001407610.1:c.3415A>G NP_001394539.1:p.Ser1139Gly missense NM_001407611.1:c.3415A>G NP_001394540.1:p.Ser1139Gly missense NM_001407612.1:c.3415A>G NP_001394541.1:p.Ser1139Gly missense NM_001407613.1:c.3415A>G NP_001394542.1:p.Ser1139Gly missense NM_001407614.1:c.3415A>G NP_001394543.1:p.Ser1139Gly missense NM_001407615.1:c.3415A>G NP_001394544.1:p.Ser1139Gly missense NM_001407616.1:c.3418A>G NP_001394545.1:p.Ser1140Gly missense NM_001407617.1:c.3418A>G NP_001394546.1:p.Ser1140Gly missense NM_001407618.1:c.3418A>G NP_001394547.1:p.Ser1140Gly missense NM_001407619.1:c.3418A>G NP_001394548.1:p.Ser1140Gly missense NM_001407620.1:c.3418A>G NP_001394549.1:p.Ser1140Gly missense NM_001407621.1:c.3418A>G NP_001394550.1:p.Ser1140Gly missense NM_001407622.1:c.3418A>G NP_001394551.1:p.Ser1140Gly missense NM_001407623.1:c.3418A>G NP_001394552.1:p.Ser1140Gly missense NM_001407624.1:c.3418A>G NP_001394553.1:p.Ser1140Gly missense NM_001407625.1:c.3418A>G NP_001394554.1:p.Ser1140Gly missense NM_001407626.1:c.3418A>G NP_001394555.1:p.Ser1140Gly missense NM_001407627.1:c.3415A>G NP_001394556.1:p.Ser1139Gly missense NM_001407628.1:c.3415A>G NP_001394557.1:p.Ser1139Gly missense NM_001407629.1:c.3415A>G NP_001394558.1:p.Ser1139Gly missense NM_001407630.1:c.3415A>G NP_001394559.1:p.Ser1139Gly missense NM_001407631.1:c.3415A>G NP_001394560.1:p.Ser1139Gly missense NM_001407632.1:c.3415A>G NP_001394561.1:p.Ser1139Gly missense NM_001407633.1:c.3415A>G NP_001394562.1:p.Ser1139Gly missense NM_001407634.1:c.3415A>G NP_001394563.1:p.Ser1139Gly missense NM_001407635.1:c.3415A>G NP_001394564.1:p.Ser1139Gly missense NM_001407636.1:c.3415A>G NP_001394565.1:p.Ser1139Gly missense NM_001407637.1:c.3415A>G NP_001394566.1:p.Ser1139Gly missense NM_001407638.1:c.3415A>G NP_001394567.1:p.Ser1139Gly missense NM_001407639.1:c.3418A>G NP_001394568.1:p.Ser1140Gly missense NM_001407640.1:c.3418A>G NP_001394569.1:p.Ser1140Gly missense NM_001407641.1:c.3418A>G NP_001394570.1:p.Ser1140Gly missense NM_001407642.1:c.3418A>G NP_001394571.1:p.Ser1140Gly missense NM_001407644.1:c.3415A>G NP_001394573.1:p.Ser1139Gly missense NM_001407645.1:c.3415A>G NP_001394574.1:p.Ser1139Gly missense NM_001407646.1:c.3409A>G NP_001394575.1:p.Ser1137Gly missense NM_001407647.1:c.3409A>G NP_001394576.1:p.Ser1137Gly missense NM_001407648.1:c.3295A>G NP_001394577.1:p.Ser1099Gly missense NM_001407649.1:c.3292A>G NP_001394578.1:p.Ser1098Gly missense NM_001407652.1:c.3418A>G NP_001394581.1:p.Ser1140Gly missense NM_001407653.1:c.3340A>G NP_001394582.1:p.Ser1114Gly missense NM_001407654.1:c.3340A>G NP_001394583.1:p.Ser1114Gly missense NM_001407655.1:c.3340A>G NP_001394584.1:p.Ser1114Gly missense NM_001407656.1:c.3340A>G NP_001394585.1:p.Ser1114Gly missense NM_001407657.1:c.3340A>G NP_001394586.1:p.Ser1114Gly missense NM_001407658.1:c.3340A>G NP_001394587.1:p.Ser1114Gly missense NM_001407659.1:c.3337A>G NP_001394588.1:p.Ser1113Gly missense NM_001407660.1:c.3337A>G NP_001394589.1:p.Ser1113Gly missense NM_001407661.1:c.3337A>G NP_001394590.1:p.Ser1113Gly missense NM_001407662.1:c.3337A>G NP_001394591.1:p.Ser1113Gly missense NM_001407663.1:c.3340A>G NP_001394592.1:p.Ser1114Gly missense NM_001407664.1:c.3295A>G NP_001394593.1:p.Ser1099Gly missense NM_001407665.1:c.3295A>G NP_001394594.1:p.Ser1099Gly missense NM_001407666.1:c.3295A>G NP_001394595.1:p.Ser1099Gly missense NM_001407667.1:c.3295A>G NP_001394596.1:p.Ser1099Gly missense NM_001407668.1:c.3295A>G NP_001394597.1:p.Ser1099Gly missense NM_001407669.1:c.3295A>G NP_001394598.1:p.Ser1099Gly missense NM_001407670.1:c.3292A>G NP_001394599.1:p.Ser1098Gly missense NM_001407671.1:c.3292A>G NP_001394600.1:p.Ser1098Gly missense NM_001407672.1:c.3292A>G NP_001394601.1:p.Ser1098Gly missense NM_001407673.1:c.3292A>G NP_001394602.1:p.Ser1098Gly missense NM_001407674.1:c.3295A>G NP_001394603.1:p.Ser1099Gly missense NM_001407675.1:c.3295A>G NP_001394604.1:p.Ser1099Gly missense NM_001407676.1:c.3295A>G NP_001394605.1:p.Ser1099Gly missense NM_001407677.1:c.3295A>G NP_001394606.1:p.Ser1099Gly missense NM_001407678.1:c.3295A>G NP_001394607.1:p.Ser1099Gly missense NM_001407679.1:c.3295A>G NP_001394608.1:p.Ser1099Gly missense NM_001407680.1:c.3295A>G NP_001394609.1:p.Ser1099Gly missense NM_001407681.1:c.3295A>G NP_001394610.1:p.Ser1099Gly missense NM_001407682.1:c.3295A>G NP_001394611.1:p.Ser1099Gly missense NM_001407683.1:c.3295A>G NP_001394612.1:p.Ser1099Gly missense NM_001407684.1:c.3418A>G NP_001394613.1:p.Ser1140Gly missense NM_001407685.1:c.3292A>G NP_001394614.1:p.Ser1098Gly missense NM_001407686.1:c.3292A>G NP_001394615.1:p.Ser1098Gly missense NM_001407687.1:c.3292A>G NP_001394616.1:p.Ser1098Gly missense NM_001407688.1:c.3292A>G NP_001394617.1:p.Ser1098Gly missense NM_001407689.1:c.3292A>G NP_001394618.1:p.Ser1098Gly missense NM_001407690.1:c.3292A>G NP_001394619.1:p.Ser1098Gly missense NM_001407691.1:c.3292A>G NP_001394620.1:p.Ser1098Gly missense NM_001407692.1:c.3277A>G NP_001394621.1:p.Ser1093Gly missense NM_001407694.1:c.3277A>G NP_001394623.1:p.Ser1093Gly missense NM_001407695.1:c.3277A>G NP_001394624.1:p.Ser1093Gly missense NM_001407696.1:c.3277A>G NP_001394625.1:p.Ser1093Gly missense NM_001407697.1:c.3277A>G NP_001394626.1:p.Ser1093Gly missense NM_001407698.1:c.3277A>G NP_001394627.1:p.Ser1093Gly missense NM_001407724.1:c.3277A>G NP_001394653.1:p.Ser1093Gly missense NM_001407725.1:c.3277A>G NP_001394654.1:p.Ser1093Gly missense NM_001407726.1:c.3277A>G NP_001394655.1:p.Ser1093Gly missense NM_001407727.1:c.3277A>G NP_001394656.1:p.Ser1093Gly missense NM_001407728.1:c.3277A>G NP_001394657.1:p.Ser1093Gly missense NM_001407729.1:c.3277A>G NP_001394658.1:p.Ser1093Gly missense NM_001407730.1:c.3277A>G NP_001394659.1:p.Ser1093Gly missense NM_001407731.1:c.3277A>G NP_001394660.1:p.Ser1093Gly missense NM_001407732.1:c.3277A>G NP_001394661.1:p.Ser1093Gly missense NM_001407733.1:c.3277A>G NP_001394662.1:p.Ser1093Gly missense NM_001407734.1:c.3277A>G NP_001394663.1:p.Ser1093Gly missense NM_001407735.1:c.3277A>G NP_001394664.1:p.Ser1093Gly missense NM_001407736.1:c.3277A>G NP_001394665.1:p.Ser1093Gly missense NM_001407737.1:c.3277A>G NP_001394666.1:p.Ser1093Gly missense NM_001407738.1:c.3277A>G NP_001394667.1:p.Ser1093Gly missense NM_001407739.1:c.3277A>G NP_001394668.1:p.Ser1093Gly missense NM_001407740.1:c.3274A>G NP_001394669.1:p.Ser1092Gly missense NM_001407741.1:c.3274A>G NP_001394670.1:p.Ser1092Gly missense NM_001407742.1:c.3274A>G NP_001394671.1:p.Ser1092Gly missense NM_001407743.1:c.3274A>G NP_001394672.1:p.Ser1092Gly missense NM_001407744.1:c.3274A>G NP_001394673.1:p.Ser1092Gly missense NM_001407745.1:c.3274A>G NP_001394674.1:p.Ser1092Gly missense NM_001407746.1:c.3274A>G NP_001394675.1:p.Ser1092Gly missense NM_001407747.1:c.3274A>G NP_001394676.1:p.Ser1092Gly missense NM_001407748.1:c.3274A>G NP_001394677.1:p.Ser1092Gly missense NM_001407749.1:c.3274A>G NP_001394678.1:p.Ser1092Gly missense NM_001407750.1:c.3277A>G NP_001394679.1:p.Ser1093Gly missense NM_001407751.1:c.3277A>G NP_001394680.1:p.Ser1093Gly missense NM_001407752.1:c.3277A>G NP_001394681.1:p.Ser1093Gly missense NM_001407838.1:c.3274A>G NP_001394767.1:p.Ser1092Gly missense NM_001407839.1:c.3274A>G NP_001394768.1:p.Ser1092Gly missense NM_001407841.1:c.3274A>G NP_001394770.1:p.Ser1092Gly missense NM_001407842.1:c.3274A>G NP_001394771.1:p.Ser1092Gly missense NM_001407843.1:c.3274A>G NP_001394772.1:p.Ser1092Gly missense NM_001407844.1:c.3274A>G NP_001394773.1:p.Ser1092Gly missense NM_001407845.1:c.3274A>G NP_001394774.1:p.Ser1092Gly missense NM_001407846.1:c.3274A>G NP_001394775.1:p.Ser1092Gly missense NM_001407847.1:c.3274A>G NP_001394776.1:p.Ser1092Gly missense NM_001407848.1:c.3274A>G NP_001394777.1:p.Ser1092Gly missense NM_001407849.1:c.3274A>G NP_001394778.1:p.Ser1092Gly missense NM_001407850.1:c.3277A>G NP_001394779.1:p.Ser1093Gly missense NM_001407851.1:c.3277A>G NP_001394780.1:p.Ser1093Gly missense NM_001407852.1:c.3277A>G NP_001394781.1:p.Ser1093Gly missense NM_001407853.1:c.3205A>G NP_001394782.1:p.Ser1069Gly missense NM_001407854.1:c.3418A>G NP_001394783.1:p.Ser1140Gly missense NM_001407858.1:c.3418A>G NP_001394787.1:p.Ser1140Gly missense NM_001407859.1:c.3418A>G NP_001394788.1:p.Ser1140Gly missense NM_001407860.1:c.3415A>G NP_001394789.1:p.Ser1139Gly missense NM_001407861.1:c.3415A>G NP_001394790.1:p.Ser1139Gly missense NM_001407862.1:c.3217A>G NP_001394791.1:p.Ser1073Gly missense NM_001407863.1:c.3295A>G NP_001394792.1:p.Ser1099Gly missense NM_001407874.1:c.3214A>G NP_001394803.1:p.Ser1072Gly missense NM_001407875.1:c.3214A>G NP_001394804.1:p.Ser1072Gly missense NM_001407879.1:c.3208A>G NP_001394808.1:p.Ser1070Gly missense NM_001407881.1:c.3208A>G NP_001394810.1:p.Ser1070Gly missense NM_001407882.1:c.3208A>G NP_001394811.1:p.Ser1070Gly missense NM_001407884.1:c.3208A>G NP_001394813.1:p.Ser1070Gly missense NM_001407885.1:c.3208A>G NP_001394814.1:p.Ser1070Gly missense NM_001407886.1:c.3208A>G NP_001394815.1:p.Ser1070Gly missense NM_001407887.1:c.3208A>G NP_001394816.1:p.Ser1070Gly missense NM_001407889.1:c.3208A>G NP_001394818.1:p.Ser1070Gly missense NM_001407894.1:c.3205A>G NP_001394823.1:p.Ser1069Gly missense NM_001407895.1:c.3205A>G NP_001394824.1:p.Ser1069Gly missense NM_001407896.1:c.3205A>G NP_001394825.1:p.Ser1069Gly missense NM_001407897.1:c.3205A>G NP_001394826.1:p.Ser1069Gly missense NM_001407898.1:c.3205A>G NP_001394827.1:p.Ser1069Gly missense NM_001407899.1:c.3205A>G NP_001394828.1:p.Ser1069Gly missense NM_001407900.1:c.3208A>G NP_001394829.1:p.Ser1070Gly missense NM_001407902.1:c.3208A>G NP_001394831.1:p.Ser1070Gly missense NM_001407904.1:c.3208A>G NP_001394833.1:p.Ser1070Gly missense NM_001407906.1:c.3208A>G NP_001394835.1:p.Ser1070Gly missense NM_001407907.1:c.3208A>G NP_001394836.1:p.Ser1070Gly missense NM_001407908.1:c.3208A>G NP_001394837.1:p.Ser1070Gly missense NM_001407909.1:c.3208A>G NP_001394838.1:p.Ser1070Gly missense NM_001407910.1:c.3208A>G NP_001394839.1:p.Ser1070Gly missense NM_001407915.1:c.3205A>G NP_001394844.1:p.Ser1069Gly missense NM_001407916.1:c.3205A>G NP_001394845.1:p.Ser1069Gly missense NM_001407917.1:c.3205A>G NP_001394846.1:p.Ser1069Gly missense NM_001407918.1:c.3205A>G NP_001394847.1:p.Ser1069Gly missense NM_001407919.1:c.3295A>G NP_001394848.1:p.Ser1099Gly missense NM_001407920.1:c.3154A>G NP_001394849.1:p.Ser1052Gly missense NM_001407921.1:c.3154A>G NP_001394850.1:p.Ser1052Gly missense NM_001407922.1:c.3154A>G NP_001394851.1:p.Ser1052Gly missense NM_001407923.1:c.3154A>G NP_001394852.1:p.Ser1052Gly missense NM_001407924.1:c.3154A>G NP_001394853.1:p.Ser1052Gly missense NM_001407925.1:c.3154A>G NP_001394854.1:p.Ser1052Gly missense NM_001407926.1:c.3154A>G NP_001394855.1:p.Ser1052Gly missense NM_001407927.1:c.3154A>G NP_001394856.1:p.Ser1052Gly missense NM_001407928.1:c.3154A>G NP_001394857.1:p.Ser1052Gly missense NM_001407929.1:c.3154A>G NP_001394858.1:p.Ser1052Gly missense NM_001407930.1:c.3151A>G NP_001394859.1:p.Ser1051Gly missense NM_001407931.1:c.3151A>G NP_001394860.1:p.Ser1051Gly missense NM_001407932.1:c.3151A>G NP_001394861.1:p.Ser1051Gly missense NM_001407933.1:c.3154A>G NP_001394862.1:p.Ser1052Gly missense NM_001407934.1:c.3151A>G NP_001394863.1:p.Ser1051Gly missense NM_001407935.1:c.3154A>G NP_001394864.1:p.Ser1052Gly missense NM_001407936.1:c.3151A>G NP_001394865.1:p.Ser1051Gly missense NM_001407937.1:c.3295A>G NP_001394866.1:p.Ser1099Gly missense NM_001407938.1:c.3295A>G NP_001394867.1:p.Ser1099Gly missense NM_001407939.1:c.3295A>G NP_001394868.1:p.Ser1099Gly missense NM_001407940.1:c.3292A>G NP_001394869.1:p.Ser1098Gly missense NM_001407941.1:c.3292A>G NP_001394870.1:p.Ser1098Gly missense NM_001407942.1:c.3277A>G NP_001394871.1:p.Ser1093Gly missense NM_001407943.1:c.3274A>G NP_001394872.1:p.Ser1092Gly missense NM_001407944.1:c.3277A>G NP_001394873.1:p.Ser1093Gly missense NM_001407945.1:c.3277A>G NP_001394874.1:p.Ser1093Gly missense NM_001407946.1:c.3085A>G NP_001394875.1:p.Ser1029Gly missense NM_001407947.1:c.3085A>G NP_001394876.1:p.Ser1029Gly missense NM_001407948.1:c.3085A>G NP_001394877.1:p.Ser1029Gly missense NM_001407949.1:c.3085A>G NP_001394878.1:p.Ser1029Gly missense NM_001407950.1:c.3085A>G NP_001394879.1:p.Ser1029Gly missense NM_001407951.1:c.3085A>G NP_001394880.1:p.Ser1029Gly missense NM_001407952.1:c.3085A>G NP_001394881.1:p.Ser1029Gly missense NM_001407953.1:c.3085A>G NP_001394882.1:p.Ser1029Gly missense NM_001407954.1:c.3082A>G NP_001394883.1:p.Ser1028Gly missense NM_001407955.1:c.3082A>G NP_001394884.1:p.Ser1028Gly missense NM_001407956.1:c.3082A>G NP_001394885.1:p.Ser1028Gly missense NM_001407957.1:c.3085A>G NP_001394886.1:p.Ser1029Gly missense NM_001407958.1:c.3082A>G NP_001394887.1:p.Ser1028Gly missense NM_001407959.1:c.3037A>G NP_001394888.1:p.Ser1013Gly missense NM_001407960.1:c.3037A>G NP_001394889.1:p.Ser1013Gly missense NM_001407962.1:c.3034A>G NP_001394891.1:p.Ser1012Gly missense NM_001407963.1:c.3037A>G NP_001394892.1:p.Ser1013Gly missense NM_001407964.1:c.3274A>G NP_001394893.1:p.Ser1092Gly missense NM_001407965.1:c.2914A>G NP_001394894.1:p.Ser972Gly missense NM_001407966.1:c.2530A>G NP_001394895.1:p.Ser844Gly missense NM_001407967.1:c.2530A>G NP_001394896.1:p.Ser844Gly missense NM_001407968.1:c.814A>G NP_001394897.1:p.Ser272Gly missense NM_001407969.1:c.814A>G NP_001394898.1:p.Ser272Gly missense NM_001407970.1:c.788-1081A>G intron variant NM_001407971.1:c.788-1081A>G intron variant NM_001407972.1:c.785-1081A>G intron variant NM_001407973.1:c.788-1081A>G intron variant NM_001407974.1:c.788-1081A>G intron variant NM_001407975.1:c.788-1081A>G intron variant NM_001407976.1:c.788-1081A>G intron variant NM_001407977.1:c.788-1081A>G intron variant NM_001407978.1:c.788-1081A>G intron variant NM_001407979.1:c.788-1081A>G intron variant NM_001407980.1:c.788-1081A>G intron variant NM_001407981.1:c.788-1081A>G intron variant NM_001407982.1:c.788-1081A>G intron variant NM_001407983.1:c.788-1081A>G intron variant NM_001407984.1:c.785-1081A>G intron variant NM_001407985.1:c.785-1081A>G intron variant NM_001407986.1:c.785-1081A>G intron variant NM_001407990.1:c.788-1081A>G intron variant NM_001407991.1:c.785-1081A>G intron variant NM_001407992.1:c.785-1081A>G intron variant NM_001407993.1:c.788-1081A>G intron variant NM_001408392.1:c.785-1081A>G intron variant NM_001408396.1:c.785-1081A>G intron variant NM_001408397.1:c.785-1081A>G intron variant NM_001408398.1:c.785-1081A>G intron variant NM_001408399.1:c.785-1081A>G intron variant NM_001408400.1:c.785-1081A>G intron variant NM_001408401.1:c.785-1081A>G intron variant NM_001408402.1:c.785-1081A>G intron variant NM_001408403.1:c.788-1081A>G intron variant NM_001408404.1:c.788-1081A>G intron variant NM_001408406.1:c.791-1090A>G intron variant NM_001408407.1:c.785-1081A>G intron variant NM_001408408.1:c.779-1081A>G intron variant NM_001408409.1:c.710-1081A>G intron variant NM_001408410.1:c.647-1081A>G intron variant NM_001408411.1:c.710-1081A>G intron variant NM_001408412.1:c.710-1081A>G intron variant NM_001408413.1:c.707-1081A>G intron variant NM_001408414.1:c.710-1081A>G intron variant NM_001408415.1:c.710-1081A>G intron variant NM_001408416.1:c.707-1081A>G intron variant NM_001408418.1:c.671-1081A>G intron variant NM_001408419.1:c.671-1081A>G intron variant NM_001408420.1:c.671-1081A>G intron variant NM_001408421.1:c.668-1081A>G intron variant NM_001408422.1:c.671-1081A>G intron variant NM_001408423.1:c.671-1081A>G intron variant NM_001408424.1:c.668-1081A>G intron variant NM_001408425.1:c.665-1081A>G intron variant NM_001408426.1:c.665-1081A>G intron variant NM_001408427.1:c.665-1081A>G intron variant NM_001408428.1:c.665-1081A>G intron variant NM_001408429.1:c.665-1081A>G intron variant NM_001408430.1:c.665-1081A>G intron variant NM_001408431.1:c.668-1081A>G intron variant NM_001408432.1:c.662-1081A>G intron variant NM_001408433.1:c.662-1081A>G intron variant NM_001408434.1:c.662-1081A>G intron variant NM_001408435.1:c.662-1081A>G intron variant NM_001408436.1:c.665-1081A>G intron variant NM_001408437.1:c.665-1081A>G intron variant NM_001408438.1:c.665-1081A>G intron variant NM_001408439.1:c.665-1081A>G intron variant NM_001408440.1:c.665-1081A>G intron variant NM_001408441.1:c.665-1081A>G intron variant NM_001408442.1:c.665-1081A>G intron variant NM_001408443.1:c.665-1081A>G intron variant NM_001408444.1:c.665-1081A>G intron variant NM_001408445.1:c.662-1081A>G intron variant NM_001408446.1:c.662-1081A>G intron variant NM_001408447.1:c.662-1081A>G intron variant NM_001408448.1:c.662-1081A>G intron variant NM_001408450.1:c.662-1081A>G intron variant NM_001408451.1:c.653-1081A>G intron variant NM_001408452.1:c.647-1081A>G intron variant NM_001408453.1:c.647-1081A>G intron variant NM_001408454.1:c.647-1081A>G intron variant NM_001408455.1:c.647-1081A>G intron variant NM_001408456.1:c.647-1081A>G intron variant NM_001408457.1:c.647-1081A>G intron variant NM_001408458.1:c.647-1081A>G intron variant NM_001408459.1:c.647-1081A>G intron variant NM_001408460.1:c.647-1081A>G intron variant NM_001408461.1:c.647-1081A>G intron variant NM_001408462.1:c.644-1081A>G intron variant NM_001408463.1:c.644-1081A>G intron variant NM_001408464.1:c.644-1081A>G intron variant NM_001408465.1:c.644-1081A>G intron variant NM_001408466.1:c.647-1081A>G intron variant NM_001408467.1:c.647-1081A>G intron variant NM_001408468.1:c.644-1081A>G intron variant NM_001408469.1:c.647-1081A>G intron variant NM_001408470.1:c.644-1081A>G intron variant NM_001408472.1:c.788-1081A>G intron variant NM_001408473.1:c.785-1081A>G intron variant NM_001408474.1:c.587-1081A>G intron variant NM_001408475.1:c.584-1081A>G intron variant NM_001408476.1:c.587-1081A>G intron variant NM_001408478.1:c.578-1081A>G intron variant NM_001408479.1:c.578-1081A>G intron variant NM_001408480.1:c.578-1081A>G intron variant NM_001408481.1:c.578-1081A>G intron variant NM_001408482.1:c.578-1081A>G intron variant NM_001408483.1:c.578-1081A>G intron variant NM_001408484.1:c.578-1081A>G intron variant NM_001408485.1:c.578-1081A>G intron variant NM_001408489.1:c.578-1081A>G intron variant NM_001408490.1:c.575-1081A>G intron variant NM_001408491.1:c.575-1081A>G intron variant NM_001408492.1:c.578-1081A>G intron variant NM_001408493.1:c.575-1081A>G intron variant NM_001408494.1:c.548-1081A>G intron variant NM_001408495.1:c.545-1081A>G intron variant NM_001408496.1:c.524-1081A>G intron variant NM_001408497.1:c.524-1081A>G intron variant NM_001408498.1:c.524-1081A>G intron variant NM_001408499.1:c.524-1081A>G intron variant NM_001408500.1:c.524-1081A>G intron variant NM_001408501.1:c.524-1081A>G intron variant NM_001408502.1:c.455-1081A>G intron variant NM_001408503.1:c.521-1081A>G intron variant NM_001408504.1:c.521-1081A>G intron variant NM_001408505.1:c.521-1081A>G intron variant NM_001408506.1:c.461-1081A>G intron variant NM_001408507.1:c.461-1081A>G intron variant NM_001408508.1:c.452-1081A>G intron variant NM_001408509.1:c.452-1081A>G intron variant NM_001408510.1:c.407-1081A>G intron variant NM_001408511.1:c.404-1081A>G intron variant NM_001408512.1:c.284-1081A>G intron variant NM_001408513.1:c.578-1081A>G intron variant NM_001408514.1:c.578-1081A>G intron variant NM_007297.4:c.3277A>G NP_009228.2:p.Ser1093Gly missense NM_007298.4:c.788-1081A>G intron variant NM_007299.4:c.788-1081A>G intron variant NM_007300.4:c.3418A>G NP_009231.2:p.Ser1140Gly missense NR_027676.1:n.3554A>G NC_000017.11:g.43092113T>C NC_000017.10:g.41244130T>C NG_005905.2:g.125871A>G NG_087068.1:g.1095T>C LRG_292:g.125871A>G LRG_292t1:c.3418A>G LRG_292p1:p.Ser1140Gly P38398:p.Ser1140Gly U14680.1:n.3537A>G - Protein change
- S1140G, S1093G, S1029G, S1051G, S1069G, S1092G, S1114G, S972G, S1013G, S1028G, S1072G, S1099G, S844G, S1012G, S1070G, S1098G, S1113G, S1139G, S272G, S1052G, S1073G, S1137G
- Other names
- NM_007294.4(BRCA1):c.3418A>G
- Canonical SPDI
- NC_000017.11:43092112:T:C
-
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.
-
0.00998 (C)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD), exomes 0.00252
Exome Aggregation Consortium (ExAC) 0.00311
1000 Genomes Project 0.00998
Trans-Omics for Precision Medicine (TOPMed) 0.01048
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01053
The Genome Aggregation Database (gnomAD) 0.01054
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. |
---|---|---|---|---|
Benign (4) |
criteria provided, multiple submitters, no conflicts
|
May 1, 2024 | RCV000034741.31 | |
Benign/Likely benign (8) |
reviewed by expert panel
|
Jul 7, 2023 | RCV000112092.27 | |
Benign/Likely benign (5) |
criteria provided, multiple submitters, no conflicts
|
Feb 1, 2024 | RCV000048187.31 | |
Benign (8) |
criteria provided, multiple submitters, no conflicts
|
Aug 15, 2023 | RCV000120277.37 | |
Benign (4) |
criteria provided, multiple submitters, no conflicts
|
Mar 26, 2020 | RCV000162594.14 | |
Benign (1) |
criteria provided, single submitter
|
Sep 25, 2018 | RCV001197692.10 | |
Likely benign (1) |
criteria provided, single submitter
|
Oct 21, 2021 | RCV002477058.8 | |
Benign (1) |
criteria provided, single submitter
|
Jul 6, 2021 | RCV003149613.9 | |
Benign (1) |
reviewed by expert panel
|
Jun 11, 2024 | RCV004566802.1 |
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. |
|
---|---|---|---|---|---|
Benign
(Jun 11, 2024)
|
reviewed by expert panel
Method: curation
|
BRCA1-related cancer predisposition
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen
FDA Recognized Database
Accession: SCV004101423.2 First in ClinVar: Nov 11, 2023 Last updated: Jun 17, 2024 |
Comment:
The c.3418A>G variant in BRCA1 is a missense variant predicted to cause substitution of Serine by Glycine at amino acid 1140 (p.Ser1140Gly). The highest non-cancer, … (more)
The c.3418A>G variant in BRCA1 is a missense variant predicted to cause substitution of Serine by Glycine at amino acid 1140 (p.Ser1140Gly). The highest non-cancer, non-founder population filter allele frequency in gnomAD v2.1 (exomes only, non-cancer subset, read depth >=20) or gnomAD v3.1 (non-cancer subset, read depth >=20) is 0.03171 in the African/African-American population, which is above the ENIGMA BRCA1/2 VCEP threshold (>0.001) for BA1 (BA1 met). This missense variant is located outside of a key functional domain and was not predicted to alter mRNA splicing using the SpliceAI predictor (score 0.06, score threshold <0.1) (BP1_Strong met). Reported by one calibrated study to exhibit protein function similar to benign control variants (PMID: 32546644) (BS3 met). This variant has been observed in more than 10 individuals with features considered inconsistent with an FA-associated phenotype, and (Likely) Pathogenic variant seen in trans or variant is homozygous (total score 4 points) (BS2 met; Invitae internal contributor). Multifactorial likelihood ratio analysis using clinically calibrated data produced a combined LR for this variant of 0.00029 (based on Co-occurrence LR=0.00029), below the threshold for Very strong benign evidence (LR <0.00285) (BP5_Very strong met; PMID: 16014699). In summary, this variant meets the criteria to be classified as a Benign variant for BRCA1-related cancer predisposition based on the ACMG/AMP criteria applied as specified by the ENIGMA BRCA1/2 VCEP (BA1, BP1_Strong, BS3, BS2, BP5_Very strong). (less)
|
|
Benign
(Nov 03, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Michigan Medical Genetics Laboratories, University of Michigan
Accession: SCV000195920.1
First in ClinVar: May 06, 2016 Last updated: May 06, 2016 |
Tissue: Blood
|
|
Likely benign
(Feb 22, 2018)
|
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: SCV000403060.3
First in ClinVar: Dec 06, 2016 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. (less)
|
|
Benign
(Mar 26, 2020)
|
criteria provided, single submitter
Method: curation
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Sema4, Sema4
Accession: SCV002538206.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022 |
|
|
Benign
(Jul 06, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Breast and/or ovarian cancer
Affected status: unknown
Allele origin:
germline
|
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Accession: SCV003838901.1
First in ClinVar: Mar 11, 2023 Last updated: Mar 11, 2023 |
|
|
Likely benign
(Feb 14, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast and ovarian cancer syndrome(HBOC)
Affected status: unknown
Allele origin:
germline
|
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.
Accession: SCV000576441.1
First in ClinVar: Apr 16, 2017 Last updated: Apr 16, 2017 |
|
|
Benign
(Sep 21, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000744635.1 First in ClinVar: May 06, 2016 Last updated: May 06, 2016 |
|
|
Benign
(Apr 19, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State
Accession: SCV002025956.2
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
Number of individuals with the variant: 77
Geographic origin: South Africa
|
|
Benign
(Nov 01, 2021)
|
criteria provided, single submitter
Method: research
|
Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
Genetics Program, Instituto Nacional de Cancer
Accession: SCV002515197.1
First in ClinVar: Nov 19, 2022 Last updated: Nov 19, 2022 |
Geographic origin: Brazil
|
|
Benign
(Oct 15, 2013)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000494372.2
First in ClinVar: Feb 04, 2017 Last updated: Dec 11, 2022 |
|
|
Benign
(Nov 18, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000683103.2
First in ClinVar: Feb 19, 2018 Last updated: Dec 11, 2022 |
|
|
Likely benign
(Jan 02, 2014)
|
criteria provided, single submitter
Method: literature only
|
Breast-ovarian cancer, familial 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000153996.2
First in ClinVar: Jun 04, 2014 Last updated: Dec 24, 2022 |
|
|
Benign
(Aug 15, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV002550999.4
First in ClinVar: Jul 30, 2022 Last updated: Aug 18, 2023 |
|
|
Benign
(Feb 01, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000076200.15
First in ClinVar: Jul 03, 2013 Last updated: Feb 20, 2024 |
|
|
Benign
(Jun 01, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000602707.7
First in ClinVar: Aug 27, 2017 Last updated: Feb 20, 2024 |
|
|
Benign
(Nov 18, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000213012.6
First in ClinVar: Mar 24, 2015 Last updated: May 01, 2024 |
Comment:
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation … (more)
This alteration is classified as 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)
|
|
Benign
(May 05, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV000806933.1
First in ClinVar: May 03, 2018 Last updated: May 03, 2018 |
|
|
Benign
(Mar 03, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000202267.7
First in ClinVar: Jan 29, 2015 Last updated: Sep 22, 2018 |
Number of individuals with the variant: 5
Sex: mixed
|
|
Benign
(Sep 25, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Familial cancer of breast
Affected status: yes
Allele origin:
unknown
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV001368471.2
First in ClinVar: Jul 06, 2020 Last updated: Jul 06, 2020 |
Comment:
This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2.
|
|
Likely benign
(Oct 21, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S
Affected status: unknown
Allele origin:
unknown
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV000575714.2
First in ClinVar: May 06, 2016 Last updated: Dec 31, 2022 |
|
|
Benign
(Jul 07, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
Accession: SCV004016762.1
First in ClinVar: Jul 29, 2023 Last updated: Jul 29, 2023 |
|
|
Benign
(May 01, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV004041995.7
First in ClinVar: Oct 14, 2023 Last updated: Jun 17, 2024 |
Comment:
BRCA1: BP4, BS1, BS2
Number of individuals with the variant: 2
|
|
no known pathogenicity
(Jul 13, 2012)
|
no assertion criteria provided
Method: research
|
not provided
Affected status: no
Allele origin:
germline
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
Study: ClinSeq
Accession: SCV000043167.1 First in ClinVar: Apr 12, 2013 Last updated: Apr 12, 2013 |
Comment:
Converted during submission to Benign.
Number of individuals with the variant: 4
Comment on evidence:
The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:22703879 for … (more)
The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:22703879 for details. (less)
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001906218.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021 |
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001927092.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021 |
|
|
Benign
(Mar 02, 2020)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
BRCAlab, Lund University
Accession: SCV004244044.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
|
|
Uncertain significance
(May 29, 2002)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
|
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144758.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 24
Observation 2:
Number of individuals with the variant: 1
Geographic origin: African American
Observation 3:
Number of individuals with the variant: 1
Geographic origin: American
Observation 4:
Number of individuals with the variant: 1
Geographic origin: Austria
Observation 5:
Number of individuals with the variant: 2
Ethnicity/Population group: African American
Geographic origin: American
|
|
Benign
(May 01, 2016)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: no
Allele origin:
germline
|
Department of Medical Genetics, University Hospital of North Norway
Accession: SCV000301433.1
First in ClinVar: May 06, 2016 Last updated: May 06, 2016 |
Number of individuals with the variant: 1
|
|
Benign
(Oct 09, 2017)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000778747.1
First in ClinVar: Feb 24, 2015 Last updated: Feb 24, 2015 |
|
|
Benign
(Jan 03, 2018)
|
no assertion criteria provided
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
True Health Diagnostics
Accession: SCV000787902.1
First in ClinVar: Feb 19, 2018 Last updated: Feb 19, 2018 |
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
unknown
|
Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000591444.2 First in ClinVar: Aug 27, 2017 Last updated: Jan 26, 2021 |
Comment:
The BRCA1, c.3418A>G, p.Ser1140Gly variant has been reported in the literature in at least 18/44788 proband chromosomes of individuals with sporadic as well as high-risk … (more)
The BRCA1, c.3418A>G, p.Ser1140Gly variant has been reported in the literature in at least 18/44788 proband chromosomes of individuals with sporadic as well as high-risk breast and /or ovarian cancer. It has also been found in 4/5118 control chromosomes evaluated (Tavtigian_2006_16014699, Abkevich_2004_15235020, Johnson_2007_17341484, McKean-Cowdin_2005_15726418, Alsop_2012_22711857, Elstrodt_2006_16397213, Tazzite_2012_22425665, Velasco_2005_15937982, Soegaard_2008_18559594). It is listed in the dbSNP database (ID#: rs2227945) as coming from a clinical source with a minor allele frequency of 0.011, having been observed in 25 chromosomes (1000 genomes), increasing the likelihood that this is benign variant. It has been listed in the UMD (x14 as neutral), BIC (x29 as UV) and the CNPHI (ACMG 3) databases. In addition, in the UMD mutation database, the variant was observed to co-occur with pathogenic BRCA1 [c.2890G>T (p.Gly964X) and c.415C>T (p.Gln139X)] as well as BRCA2 [c.2092delC (p.Leu698TyrfsX32)] variants, increasing the likelihood that p.Ser1140Gly is benign. This residue is not conserved in mammals and the variant amino acid Glycine (Gly) is present in the mouse. Computational analyses (PolyPhen, SIFT, AlignGVGD) does not predict any effect on the protein function, increasing the likelihood this variant does not have functional significance. In summary, based on the above information, this variant is classified as Benign. (less)
Number of individuals with the variant: 3
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001953692.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
|
|
not provided
(Sep 19, 2013)
|
no classification provided
Method: reference population
|
AllHighlyPenetrant
Affected status: unknown
Allele origin:
germline
|
ITMI
Accession: SCV000084429.1
First in ClinVar: Jun 09, 2014 Last updated: Jun 09, 2014
Comment:
Please see associated publication for description of ethnicities
|
Observation 1:
Ethnicity/Population group: Whole_cohort
Observation 2:
Ethnicity/Population group: African
Observation 3:
Ethnicity/Population group: African_European
Observation 4:
Ethnicity/Population group: Central_Asian
Observation 5:
Ethnicity/Population group: East_Asian
Observation 6:
Ethnicity/Population group: European
Observation 7:
Ethnicity/Population group: Hispanic
|
|
click to load more click to collapse |
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 |
---|---|---|---|---|
Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service. | Matta BP | Scientific reports | 2022 | PMID: 36329109 |
Prevalence of Clinically Relevant Germline BRCA Variants in a Large Unselected South African Breast and Ovarian Cancer Cohort: A Public Sector Experience. | Van der Merwe NC | Frontiers in genetics | 2022 | DOI: 10.3389/fgene.2022.834265 |
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. | Richards S | Genetics in medicine : official journal of the American College of Medical Genetics | 2015 | PMID: 25741868 |
A high-throughput functional complementation assay for classification of BRCA1 missense variants. | Bouwman P | Cancer discovery | 2013 | PMID: 23867111 |
BRCA1 and BRCA2 unclassified variants and missense polymorphisms in Algerian breast/ovarian cancer families. | Cherbal F | Disease markers | 2012 | PMID: 22684231 |
BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants. | Tazzite A | Gynecologic oncology | 2012 | PMID: 22425665 |
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). | Lindor NM | Human mutation | 2012 | PMID: 21990134 |
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 |
Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility. | Johnson N | Human molecular genetics | 2007 | PMID: 17341484 |
BRCA1 mutation analysis of 41 human breast cancer cell lines reveals three new deleterious mutants. | Elstrodt F | Cancer research | 2006 | PMID: 16397213 |
Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. | Tavtigian SV | Journal of medical genetics | 2006 | PMID: 16014699 |
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 |
A haplotype-based case-control study of BRCA1 and sporadic breast cancer risk. | Freedman ML | Cancer research | 2005 | PMID: 16103107 |
BRCA1 variants in a family study of African-American and Latina women. | McKean-Cowdin R | Human genetics | 2005 | PMID: 15726418 |
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. | Abkevich V | Journal of medical genetics | 2004 | PMID: 15235020 |
The breast cancer information core: database design, structure, and scope. | Szabo C | Human mutation | 2000 | PMID: 10923033 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=BRCA1 | - | - | - | - |
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/911b8df3-87b8-4dad-b9b9-792bc57a5295 | - | - | - | - |
click to load more click to collapse |
Text-mined citations for rs2227945 ...
HelpRecord last updated Jun 17, 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.