ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3403C>T (p.Gln1135Ter)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.3403C>T (p.Gln1135Ter)
Variation ID: 54868 Accession: VCV000054868.19
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43092128 (GRCh38) [ NCBI UCSC ] 17: 41244145 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 1, 2014 May 1, 2024 Apr 22, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.3403C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gln1135Ter nonsense NM_001407571.1:c.3190C>T NP_001394500.1:p.Gln1064Ter nonsense NM_001407581.1:c.3403C>T NP_001394510.1:p.Gln1135Ter nonsense NM_001407582.1:c.3403C>T NP_001394511.1:p.Gln1135Ter nonsense NM_001407583.1:c.3403C>T NP_001394512.1:p.Gln1135Ter nonsense NM_001407585.1:c.3403C>T NP_001394514.1:p.Gln1135Ter nonsense NM_001407587.1:c.3400C>T NP_001394516.1:p.Gln1134Ter nonsense NM_001407590.1:c.3400C>T NP_001394519.1:p.Gln1134Ter nonsense NM_001407591.1:c.3400C>T NP_001394520.1:p.Gln1134Ter nonsense NM_001407593.1:c.3403C>T NP_001394522.1:p.Gln1135Ter nonsense NM_001407594.1:c.3403C>T NP_001394523.1:p.Gln1135Ter nonsense NM_001407596.1:c.3403C>T NP_001394525.1:p.Gln1135Ter nonsense NM_001407597.1:c.3403C>T NP_001394526.1:p.Gln1135Ter nonsense NM_001407598.1:c.3403C>T NP_001394527.1:p.Gln1135Ter nonsense NM_001407602.1:c.3403C>T NP_001394531.1:p.Gln1135Ter nonsense NM_001407603.1:c.3403C>T NP_001394532.1:p.Gln1135Ter nonsense NM_001407605.1:c.3403C>T NP_001394534.1:p.Gln1135Ter nonsense NM_001407610.1:c.3400C>T NP_001394539.1:p.Gln1134Ter nonsense NM_001407611.1:c.3400C>T NP_001394540.1:p.Gln1134Ter nonsense NM_001407612.1:c.3400C>T NP_001394541.1:p.Gln1134Ter nonsense NM_001407613.1:c.3400C>T NP_001394542.1:p.Gln1134Ter nonsense NM_001407614.1:c.3400C>T NP_001394543.1:p.Gln1134Ter nonsense NM_001407615.1:c.3400C>T NP_001394544.1:p.Gln1134Ter nonsense NM_001407616.1:c.3403C>T NP_001394545.1:p.Gln1135Ter nonsense NM_001407617.1:c.3403C>T NP_001394546.1:p.Gln1135Ter nonsense NM_001407618.1:c.3403C>T NP_001394547.1:p.Gln1135Ter nonsense NM_001407619.1:c.3403C>T NP_001394548.1:p.Gln1135Ter nonsense NM_001407620.1:c.3403C>T NP_001394549.1:p.Gln1135Ter nonsense NM_001407621.1:c.3403C>T NP_001394550.1:p.Gln1135Ter nonsense NM_001407622.1:c.3403C>T NP_001394551.1:p.Gln1135Ter nonsense NM_001407623.1:c.3403C>T NP_001394552.1:p.Gln1135Ter nonsense NM_001407624.1:c.3403C>T NP_001394553.1:p.Gln1135Ter nonsense NM_001407625.1:c.3403C>T NP_001394554.1:p.Gln1135Ter nonsense NM_001407626.1:c.3403C>T NP_001394555.1:p.Gln1135Ter nonsense NM_001407627.1:c.3400C>T NP_001394556.1:p.Gln1134Ter nonsense NM_001407628.1:c.3400C>T NP_001394557.1:p.Gln1134Ter nonsense NM_001407629.1:c.3400C>T NP_001394558.1:p.Gln1134Ter nonsense NM_001407630.1:c.3400C>T NP_001394559.1:p.Gln1134Ter nonsense NM_001407631.1:c.3400C>T NP_001394560.1:p.Gln1134Ter nonsense NM_001407632.1:c.3400C>T NP_001394561.1:p.Gln1134Ter nonsense NM_001407633.1:c.3400C>T NP_001394562.1:p.Gln1134Ter nonsense NM_001407634.1:c.3400C>T NP_001394563.1:p.Gln1134Ter nonsense NM_001407635.1:c.3400C>T NP_001394564.1:p.Gln1134Ter nonsense NM_001407636.1:c.3400C>T NP_001394565.1:p.Gln1134Ter nonsense NM_001407637.1:c.3400C>T NP_001394566.1:p.Gln1134Ter nonsense NM_001407638.1:c.3400C>T NP_001394567.1:p.Gln1134Ter nonsense NM_001407639.1:c.3403C>T NP_001394568.1:p.Gln1135Ter nonsense NM_001407640.1:c.3403C>T NP_001394569.1:p.Gln1135Ter nonsense NM_001407641.1:c.3403C>T NP_001394570.1:p.Gln1135Ter nonsense NM_001407642.1:c.3403C>T NP_001394571.1:p.Gln1135Ter nonsense NM_001407644.1:c.3400C>T NP_001394573.1:p.Gln1134Ter nonsense NM_001407645.1:c.3400C>T NP_001394574.1:p.Gln1134Ter nonsense NM_001407646.1:c.3394C>T NP_001394575.1:p.Gln1132Ter nonsense NM_001407647.1:c.3394C>T NP_001394576.1:p.Gln1132Ter nonsense NM_001407648.1:c.3280C>T NP_001394577.1:p.Gln1094Ter nonsense NM_001407649.1:c.3277C>T NP_001394578.1:p.Gln1093Ter nonsense NM_001407652.1:c.3403C>T NP_001394581.1:p.Gln1135Ter nonsense NM_001407653.1:c.3325C>T NP_001394582.1:p.Gln1109Ter nonsense NM_001407654.1:c.3325C>T NP_001394583.1:p.Gln1109Ter nonsense NM_001407655.1:c.3325C>T NP_001394584.1:p.Gln1109Ter nonsense NM_001407656.1:c.3325C>T NP_001394585.1:p.Gln1109Ter nonsense NM_001407657.1:c.3325C>T NP_001394586.1:p.Gln1109Ter nonsense NM_001407658.1:c.3325C>T NP_001394587.1:p.Gln1109Ter nonsense NM_001407659.1:c.3322C>T NP_001394588.1:p.Gln1108Ter nonsense NM_001407660.1:c.3322C>T NP_001394589.1:p.Gln1108Ter nonsense NM_001407661.1:c.3322C>T NP_001394590.1:p.Gln1108Ter nonsense NM_001407662.1:c.3322C>T NP_001394591.1:p.Gln1108Ter nonsense NM_001407663.1:c.3325C>T NP_001394592.1:p.Gln1109Ter nonsense NM_001407664.1:c.3280C>T NP_001394593.1:p.Gln1094Ter nonsense NM_001407665.1:c.3280C>T NP_001394594.1:p.Gln1094Ter nonsense NM_001407666.1:c.3280C>T NP_001394595.1:p.Gln1094Ter nonsense NM_001407667.1:c.3280C>T NP_001394596.1:p.Gln1094Ter nonsense NM_001407668.1:c.3280C>T NP_001394597.1:p.Gln1094Ter nonsense NM_001407669.1:c.3280C>T NP_001394598.1:p.Gln1094Ter nonsense NM_001407670.1:c.3277C>T NP_001394599.1:p.Gln1093Ter nonsense NM_001407671.1:c.3277C>T NP_001394600.1:p.Gln1093Ter nonsense NM_001407672.1:c.3277C>T NP_001394601.1:p.Gln1093Ter nonsense NM_001407673.1:c.3277C>T NP_001394602.1:p.Gln1093Ter nonsense NM_001407674.1:c.3280C>T NP_001394603.1:p.Gln1094Ter nonsense NM_001407675.1:c.3280C>T NP_001394604.1:p.Gln1094Ter nonsense NM_001407676.1:c.3280C>T NP_001394605.1:p.Gln1094Ter nonsense NM_001407677.1:c.3280C>T NP_001394606.1:p.Gln1094Ter nonsense NM_001407678.1:c.3280C>T NP_001394607.1:p.Gln1094Ter nonsense NM_001407679.1:c.3280C>T NP_001394608.1:p.Gln1094Ter nonsense NM_001407680.1:c.3280C>T NP_001394609.1:p.Gln1094Ter nonsense NM_001407681.1:c.3280C>T NP_001394610.1:p.Gln1094Ter nonsense NM_001407682.1:c.3280C>T NP_001394611.1:p.Gln1094Ter nonsense NM_001407683.1:c.3280C>T NP_001394612.1:p.Gln1094Ter nonsense NM_001407684.1:c.3403C>T NP_001394613.1:p.Gln1135Ter nonsense NM_001407685.1:c.3277C>T NP_001394614.1:p.Gln1093Ter nonsense NM_001407686.1:c.3277C>T NP_001394615.1:p.Gln1093Ter nonsense NM_001407687.1:c.3277C>T NP_001394616.1:p.Gln1093Ter nonsense NM_001407688.1:c.3277C>T NP_001394617.1:p.Gln1093Ter nonsense NM_001407689.1:c.3277C>T NP_001394618.1:p.Gln1093Ter nonsense NM_001407690.1:c.3277C>T NP_001394619.1:p.Gln1093Ter nonsense NM_001407691.1:c.3277C>T NP_001394620.1:p.Gln1093Ter nonsense NM_001407692.1:c.3262C>T NP_001394621.1:p.Gln1088Ter nonsense NM_001407694.1:c.3262C>T NP_001394623.1:p.Gln1088Ter nonsense NM_001407695.1:c.3262C>T NP_001394624.1:p.Gln1088Ter nonsense NM_001407696.1:c.3262C>T NP_001394625.1:p.Gln1088Ter nonsense NM_001407697.1:c.3262C>T NP_001394626.1:p.Gln1088Ter nonsense NM_001407698.1:c.3262C>T NP_001394627.1:p.Gln1088Ter nonsense NM_001407724.1:c.3262C>T NP_001394653.1:p.Gln1088Ter nonsense NM_001407725.1:c.3262C>T NP_001394654.1:p.Gln1088Ter nonsense NM_001407726.1:c.3262C>T NP_001394655.1:p.Gln1088Ter nonsense NM_001407727.1:c.3262C>T NP_001394656.1:p.Gln1088Ter nonsense NM_001407728.1:c.3262C>T NP_001394657.1:p.Gln1088Ter nonsense NM_001407729.1:c.3262C>T NP_001394658.1:p.Gln1088Ter nonsense NM_001407730.1:c.3262C>T NP_001394659.1:p.Gln1088Ter nonsense NM_001407731.1:c.3262C>T NP_001394660.1:p.Gln1088Ter nonsense NM_001407732.1:c.3262C>T NP_001394661.1:p.Gln1088Ter nonsense NM_001407733.1:c.3262C>T NP_001394662.1:p.Gln1088Ter nonsense NM_001407734.1:c.3262C>T NP_001394663.1:p.Gln1088Ter nonsense NM_001407735.1:c.3262C>T NP_001394664.1:p.Gln1088Ter nonsense NM_001407736.1:c.3262C>T NP_001394665.1:p.Gln1088Ter nonsense NM_001407737.1:c.3262C>T NP_001394666.1:p.Gln1088Ter nonsense NM_001407738.1:c.3262C>T NP_001394667.1:p.Gln1088Ter nonsense NM_001407739.1:c.3262C>T NP_001394668.1:p.Gln1088Ter nonsense NM_001407740.1:c.3259C>T NP_001394669.1:p.Gln1087Ter nonsense NM_001407741.1:c.3259C>T NP_001394670.1:p.Gln1087Ter nonsense NM_001407742.1:c.3259C>T NP_001394671.1:p.Gln1087Ter nonsense NM_001407743.1:c.3259C>T NP_001394672.1:p.Gln1087Ter nonsense NM_001407744.1:c.3259C>T NP_001394673.1:p.Gln1087Ter nonsense NM_001407745.1:c.3259C>T NP_001394674.1:p.Gln1087Ter nonsense NM_001407746.1:c.3259C>T NP_001394675.1:p.Gln1087Ter nonsense NM_001407747.1:c.3259C>T NP_001394676.1:p.Gln1087Ter nonsense NM_001407748.1:c.3259C>T NP_001394677.1:p.Gln1087Ter nonsense NM_001407749.1:c.3259C>T NP_001394678.1:p.Gln1087Ter nonsense NM_001407750.1:c.3262C>T NP_001394679.1:p.Gln1088Ter nonsense NM_001407751.1:c.3262C>T NP_001394680.1:p.Gln1088Ter nonsense NM_001407752.1:c.3262C>T NP_001394681.1:p.Gln1088Ter nonsense NM_001407838.1:c.3259C>T NP_001394767.1:p.Gln1087Ter nonsense NM_001407839.1:c.3259C>T NP_001394768.1:p.Gln1087Ter nonsense NM_001407841.1:c.3259C>T NP_001394770.1:p.Gln1087Ter nonsense NM_001407842.1:c.3259C>T NP_001394771.1:p.Gln1087Ter nonsense NM_001407843.1:c.3259C>T NP_001394772.1:p.Gln1087Ter nonsense NM_001407844.1:c.3259C>T NP_001394773.1:p.Gln1087Ter nonsense NM_001407845.1:c.3259C>T NP_001394774.1:p.Gln1087Ter nonsense NM_001407846.1:c.3259C>T NP_001394775.1:p.Gln1087Ter nonsense NM_001407847.1:c.3259C>T NP_001394776.1:p.Gln1087Ter nonsense NM_001407848.1:c.3259C>T NP_001394777.1:p.Gln1087Ter nonsense NM_001407849.1:c.3259C>T NP_001394778.1:p.Gln1087Ter nonsense NM_001407850.1:c.3262C>T NP_001394779.1:p.Gln1088Ter nonsense NM_001407851.1:c.3262C>T NP_001394780.1:p.Gln1088Ter nonsense NM_001407852.1:c.3262C>T NP_001394781.1:p.Gln1088Ter nonsense NM_001407853.1:c.3190C>T NP_001394782.1:p.Gln1064Ter nonsense NM_001407854.1:c.3403C>T NP_001394783.1:p.Gln1135Ter nonsense NM_001407858.1:c.3403C>T NP_001394787.1:p.Gln1135Ter nonsense NM_001407859.1:c.3403C>T NP_001394788.1:p.Gln1135Ter nonsense NM_001407860.1:c.3400C>T NP_001394789.1:p.Gln1134Ter nonsense NM_001407861.1:c.3400C>T NP_001394790.1:p.Gln1134Ter nonsense NM_001407862.1:c.3202C>T NP_001394791.1:p.Gln1068Ter nonsense NM_001407863.1:c.3280C>T NP_001394792.1:p.Gln1094Ter nonsense NM_001407874.1:c.3199C>T NP_001394803.1:p.Gln1067Ter nonsense NM_001407875.1:c.3199C>T NP_001394804.1:p.Gln1067Ter nonsense NM_001407879.1:c.3193C>T NP_001394808.1:p.Gln1065Ter nonsense NM_001407881.1:c.3193C>T NP_001394810.1:p.Gln1065Ter nonsense NM_001407882.1:c.3193C>T NP_001394811.1:p.Gln1065Ter nonsense NM_001407884.1:c.3193C>T NP_001394813.1:p.Gln1065Ter nonsense NM_001407885.1:c.3193C>T NP_001394814.1:p.Gln1065Ter nonsense NM_001407886.1:c.3193C>T NP_001394815.1:p.Gln1065Ter nonsense NM_001407887.1:c.3193C>T NP_001394816.1:p.Gln1065Ter nonsense NM_001407889.1:c.3193C>T NP_001394818.1:p.Gln1065Ter nonsense NM_001407894.1:c.3190C>T NP_001394823.1:p.Gln1064Ter nonsense NM_001407895.1:c.3190C>T NP_001394824.1:p.Gln1064Ter nonsense NM_001407896.1:c.3190C>T NP_001394825.1:p.Gln1064Ter nonsense NM_001407897.1:c.3190C>T NP_001394826.1:p.Gln1064Ter nonsense NM_001407898.1:c.3190C>T NP_001394827.1:p.Gln1064Ter nonsense NM_001407899.1:c.3190C>T NP_001394828.1:p.Gln1064Ter nonsense NM_001407900.1:c.3193C>T NP_001394829.1:p.Gln1065Ter nonsense NM_001407902.1:c.3193C>T NP_001394831.1:p.Gln1065Ter nonsense NM_001407904.1:c.3193C>T NP_001394833.1:p.Gln1065Ter nonsense NM_001407906.1:c.3193C>T NP_001394835.1:p.Gln1065Ter nonsense NM_001407907.1:c.3193C>T NP_001394836.1:p.Gln1065Ter nonsense NM_001407908.1:c.3193C>T NP_001394837.1:p.Gln1065Ter nonsense NM_001407909.1:c.3193C>T NP_001394838.1:p.Gln1065Ter nonsense NM_001407910.1:c.3193C>T NP_001394839.1:p.Gln1065Ter nonsense NM_001407915.1:c.3190C>T NP_001394844.1:p.Gln1064Ter nonsense NM_001407916.1:c.3190C>T NP_001394845.1:p.Gln1064Ter nonsense NM_001407917.1:c.3190C>T NP_001394846.1:p.Gln1064Ter nonsense NM_001407918.1:c.3190C>T NP_001394847.1:p.Gln1064Ter nonsense NM_001407919.1:c.3280C>T NP_001394848.1:p.Gln1094Ter nonsense NM_001407920.1:c.3139C>T NP_001394849.1:p.Gln1047Ter nonsense NM_001407921.1:c.3139C>T NP_001394850.1:p.Gln1047Ter nonsense NM_001407922.1:c.3139C>T NP_001394851.1:p.Gln1047Ter nonsense NM_001407923.1:c.3139C>T NP_001394852.1:p.Gln1047Ter nonsense NM_001407924.1:c.3139C>T NP_001394853.1:p.Gln1047Ter nonsense NM_001407925.1:c.3139C>T NP_001394854.1:p.Gln1047Ter nonsense NM_001407926.1:c.3139C>T NP_001394855.1:p.Gln1047Ter nonsense NM_001407927.1:c.3139C>T NP_001394856.1:p.Gln1047Ter nonsense NM_001407928.1:c.3139C>T NP_001394857.1:p.Gln1047Ter nonsense NM_001407929.1:c.3139C>T NP_001394858.1:p.Gln1047Ter nonsense NM_001407930.1:c.3136C>T NP_001394859.1:p.Gln1046Ter nonsense NM_001407931.1:c.3136C>T NP_001394860.1:p.Gln1046Ter nonsense NM_001407932.1:c.3136C>T NP_001394861.1:p.Gln1046Ter nonsense NM_001407933.1:c.3139C>T NP_001394862.1:p.Gln1047Ter nonsense NM_001407934.1:c.3136C>T NP_001394863.1:p.Gln1046Ter nonsense NM_001407935.1:c.3139C>T NP_001394864.1:p.Gln1047Ter nonsense NM_001407936.1:c.3136C>T NP_001394865.1:p.Gln1046Ter nonsense NM_001407937.1:c.3280C>T NP_001394866.1:p.Gln1094Ter nonsense NM_001407938.1:c.3280C>T NP_001394867.1:p.Gln1094Ter nonsense NM_001407939.1:c.3280C>T NP_001394868.1:p.Gln1094Ter nonsense NM_001407940.1:c.3277C>T NP_001394869.1:p.Gln1093Ter nonsense NM_001407941.1:c.3277C>T NP_001394870.1:p.Gln1093Ter nonsense NM_001407942.1:c.3262C>T NP_001394871.1:p.Gln1088Ter nonsense NM_001407943.1:c.3259C>T NP_001394872.1:p.Gln1087Ter nonsense NM_001407944.1:c.3262C>T NP_001394873.1:p.Gln1088Ter nonsense NM_001407945.1:c.3262C>T NP_001394874.1:p.Gln1088Ter nonsense NM_001407946.1:c.3070C>T NP_001394875.1:p.Gln1024Ter nonsense NM_001407947.1:c.3070C>T NP_001394876.1:p.Gln1024Ter nonsense NM_001407948.1:c.3070C>T NP_001394877.1:p.Gln1024Ter nonsense NM_001407949.1:c.3070C>T NP_001394878.1:p.Gln1024Ter nonsense NM_001407950.1:c.3070C>T NP_001394879.1:p.Gln1024Ter nonsense NM_001407951.1:c.3070C>T NP_001394880.1:p.Gln1024Ter nonsense NM_001407952.1:c.3070C>T NP_001394881.1:p.Gln1024Ter nonsense NM_001407953.1:c.3070C>T NP_001394882.1:p.Gln1024Ter nonsense NM_001407954.1:c.3067C>T NP_001394883.1:p.Gln1023Ter nonsense NM_001407955.1:c.3067C>T NP_001394884.1:p.Gln1023Ter nonsense NM_001407956.1:c.3067C>T NP_001394885.1:p.Gln1023Ter nonsense NM_001407957.1:c.3070C>T NP_001394886.1:p.Gln1024Ter nonsense NM_001407958.1:c.3067C>T NP_001394887.1:p.Gln1023Ter nonsense NM_001407959.1:c.3022C>T NP_001394888.1:p.Gln1008Ter nonsense NM_001407960.1:c.3022C>T NP_001394889.1:p.Gln1008Ter nonsense NM_001407962.1:c.3019C>T NP_001394891.1:p.Gln1007Ter nonsense NM_001407963.1:c.3022C>T NP_001394892.1:p.Gln1008Ter nonsense NM_001407964.1:c.3259C>T NP_001394893.1:p.Gln1087Ter nonsense NM_001407965.1:c.2899C>T NP_001394894.1:p.Gln967Ter nonsense NM_001407966.1:c.2515C>T NP_001394895.1:p.Gln839Ter nonsense NM_001407967.1:c.2515C>T NP_001394896.1:p.Gln839Ter nonsense NM_001407968.1:c.799C>T NP_001394897.1:p.Gln267Ter nonsense NM_001407969.1:c.799C>T NP_001394898.1:p.Gln267Ter nonsense NM_001407970.1:c.788-1096C>T intron variant NM_001407971.1:c.788-1096C>T intron variant NM_001407972.1:c.785-1096C>T intron variant NM_001407973.1:c.788-1096C>T intron variant NM_001407974.1:c.788-1096C>T intron variant NM_001407975.1:c.788-1096C>T intron variant NM_001407976.1:c.788-1096C>T intron variant NM_001407977.1:c.788-1096C>T intron variant NM_001407978.1:c.788-1096C>T intron variant NM_001407979.1:c.788-1096C>T intron variant NM_001407980.1:c.788-1096C>T intron variant NM_001407981.1:c.788-1096C>T intron variant NM_001407982.1:c.788-1096C>T intron variant NM_001407983.1:c.788-1096C>T intron variant NM_001407984.1:c.785-1096C>T intron variant NM_001407985.1:c.785-1096C>T intron variant NM_001407986.1:c.785-1096C>T intron variant NM_001407990.1:c.788-1096C>T intron variant NM_001407991.1:c.785-1096C>T intron variant NM_001407992.1:c.785-1096C>T intron variant NM_001407993.1:c.788-1096C>T intron variant NM_001408392.1:c.785-1096C>T intron variant NM_001408396.1:c.785-1096C>T intron variant NM_001408397.1:c.785-1096C>T intron variant NM_001408398.1:c.785-1096C>T intron variant NM_001408399.1:c.785-1096C>T intron variant NM_001408400.1:c.785-1096C>T intron variant NM_001408401.1:c.785-1096C>T intron variant NM_001408402.1:c.785-1096C>T intron variant NM_001408403.1:c.788-1096C>T intron variant NM_001408404.1:c.788-1096C>T intron variant NM_001408406.1:c.791-1105C>T intron variant NM_001408407.1:c.785-1096C>T intron variant NM_001408408.1:c.779-1096C>T intron variant NM_001408409.1:c.710-1096C>T intron variant NM_001408410.1:c.647-1096C>T intron variant NM_001408411.1:c.710-1096C>T intron variant NM_001408412.1:c.710-1096C>T intron variant NM_001408413.1:c.707-1096C>T intron variant NM_001408414.1:c.710-1096C>T intron variant NM_001408415.1:c.710-1096C>T intron variant NM_001408416.1:c.707-1096C>T intron variant NM_001408418.1:c.671-1096C>T intron variant NM_001408419.1:c.671-1096C>T intron variant NM_001408420.1:c.671-1096C>T intron variant NM_001408421.1:c.668-1096C>T intron variant NM_001408422.1:c.671-1096C>T intron variant NM_001408423.1:c.671-1096C>T intron variant NM_001408424.1:c.668-1096C>T intron variant NM_001408425.1:c.665-1096C>T intron variant NM_001408426.1:c.665-1096C>T intron variant NM_001408427.1:c.665-1096C>T intron variant NM_001408428.1:c.665-1096C>T intron variant NM_001408429.1:c.665-1096C>T intron variant NM_001408430.1:c.665-1096C>T intron variant NM_001408431.1:c.668-1096C>T intron variant NM_001408432.1:c.662-1096C>T intron variant NM_001408433.1:c.662-1096C>T intron variant NM_001408434.1:c.662-1096C>T intron variant NM_001408435.1:c.662-1096C>T intron variant NM_001408436.1:c.665-1096C>T intron variant NM_001408437.1:c.665-1096C>T intron variant NM_001408438.1:c.665-1096C>T intron variant NM_001408439.1:c.665-1096C>T intron variant NM_001408440.1:c.665-1096C>T intron variant NM_001408441.1:c.665-1096C>T intron variant NM_001408442.1:c.665-1096C>T intron variant NM_001408443.1:c.665-1096C>T intron variant NM_001408444.1:c.665-1096C>T intron variant NM_001408445.1:c.662-1096C>T intron variant NM_001408446.1:c.662-1096C>T intron variant NM_001408447.1:c.662-1096C>T intron variant NM_001408448.1:c.662-1096C>T intron variant NM_001408450.1:c.662-1096C>T intron variant NM_001408451.1:c.653-1096C>T intron variant NM_001408452.1:c.647-1096C>T intron variant NM_001408453.1:c.647-1096C>T intron variant NM_001408454.1:c.647-1096C>T intron variant NM_001408455.1:c.647-1096C>T intron variant NM_001408456.1:c.647-1096C>T intron variant NM_001408457.1:c.647-1096C>T intron variant NM_001408458.1:c.647-1096C>T intron variant NM_001408459.1:c.647-1096C>T intron variant NM_001408460.1:c.647-1096C>T intron variant NM_001408461.1:c.647-1096C>T intron variant NM_001408462.1:c.644-1096C>T intron variant NM_001408463.1:c.644-1096C>T intron variant NM_001408464.1:c.644-1096C>T intron variant NM_001408465.1:c.644-1096C>T intron variant NM_001408466.1:c.647-1096C>T intron variant NM_001408467.1:c.647-1096C>T intron variant NM_001408468.1:c.644-1096C>T intron variant NM_001408469.1:c.647-1096C>T intron variant NM_001408470.1:c.644-1096C>T intron variant NM_001408472.1:c.788-1096C>T intron variant NM_001408473.1:c.785-1096C>T intron variant NM_001408474.1:c.587-1096C>T intron variant NM_001408475.1:c.584-1096C>T intron variant NM_001408476.1:c.587-1096C>T intron variant NM_001408478.1:c.578-1096C>T intron variant NM_001408479.1:c.578-1096C>T intron variant NM_001408480.1:c.578-1096C>T intron variant NM_001408481.1:c.578-1096C>T intron variant NM_001408482.1:c.578-1096C>T intron variant NM_001408483.1:c.578-1096C>T intron variant NM_001408484.1:c.578-1096C>T intron variant NM_001408485.1:c.578-1096C>T intron variant NM_001408489.1:c.578-1096C>T intron variant NM_001408490.1:c.575-1096C>T intron variant NM_001408491.1:c.575-1096C>T intron variant NM_001408492.1:c.578-1096C>T intron variant NM_001408493.1:c.575-1096C>T intron variant NM_001408494.1:c.548-1096C>T intron variant NM_001408495.1:c.545-1096C>T intron variant NM_001408496.1:c.524-1096C>T intron variant NM_001408497.1:c.524-1096C>T intron variant NM_001408498.1:c.524-1096C>T intron variant NM_001408499.1:c.524-1096C>T intron variant NM_001408500.1:c.524-1096C>T intron variant NM_001408501.1:c.524-1096C>T intron variant NM_001408502.1:c.455-1096C>T intron variant NM_001408503.1:c.521-1096C>T intron variant NM_001408504.1:c.521-1096C>T intron variant NM_001408505.1:c.521-1096C>T intron variant NM_001408506.1:c.461-1096C>T intron variant NM_001408507.1:c.461-1096C>T intron variant NM_001408508.1:c.452-1096C>T intron variant NM_001408509.1:c.452-1096C>T intron variant NM_001408510.1:c.407-1096C>T intron variant NM_001408511.1:c.404-1096C>T intron variant NM_001408512.1:c.284-1096C>T intron variant NM_001408513.1:c.578-1096C>T intron variant NM_001408514.1:c.578-1096C>T intron variant NM_007297.4:c.3262C>T NP_009228.2:p.Gln1088Ter nonsense NM_007298.4:c.788-1096C>T intron variant NM_007299.4:c.788-1096C>T intron variant NM_007300.4:c.3403C>T NP_009231.2:p.Gln1135Ter nonsense NR_027676.1:n.3539C>T NC_000017.11:g.43092128G>A NC_000017.10:g.41244145G>A NG_005905.2:g.125856C>T NG_087068.1:g.1110G>A LRG_292:g.125856C>T LRG_292t1:c.3403C>T LRG_292p1:p.Gln1135Ter U14680.1:n.3522C>T - Protein change
- Q1135*, Q1088*, Q1008*, Q1024*, Q1065*, Q1067*, Q1093*, Q1108*, Q1047*, Q1064*, Q1109*, Q1134*, Q967*, Q1007*, Q1087*, Q1023*, Q1046*, Q1068*, Q1094*, Q1132*, Q267*, Q839*
- Other names
- 3522C>T
- Canonical SPDI
- NC_000017.11:43092127:G:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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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.
1000 Genomes Project 30x 0.00016
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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Pathogenic (5) |
reviewed by expert panel
|
Apr 22, 2016 | RCV000077547.15 | |
Pathogenic (1) |
criteria provided, single submitter
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Mar 28, 2018 | RCV000236027.10 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
|
Dec 7, 2023 | RCV000496327.15 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Feb 6, 2023 | RCV000574138.16 |
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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Pathogenic
(Apr 22, 2016)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000282307.1
First in ClinVar: Jun 24, 2016 Last updated: Jun 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
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Pathogenic
(Feb 06, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000688435.4
First in ClinVar: Feb 19, 2018 Last updated: Feb 14, 2024 |
Comment:
This variant changes 1 nucleotide in exon 10 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in … (more)
This variant changes 1 nucleotide in exon 10 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in multiple individuals affected with breast and/or ovarian cancer (PMID: 21120943, 21895635, 24448499; Color internal data), and has been identified in 12 families among the CIMBA participants (PMID: 29446198). This variant has been identified in 1/250876 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
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Pathogenic
(Jun 21, 2021)
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criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000673014.5
First in ClinVar: Jan 01, 2018 Last updated: May 01, 2024 |
Comment:
The p.Q1135* pathogenic mutation (also known as c.3403C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at … (more)
The p.Q1135* pathogenic mutation (also known as c.3403C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at nucleotide position 3403. This changes the amino acid from a glutamine to a stop codon within coding exon 9. This pathogenic mutation has been reported in multiple individuals diagnosed with breast and/or ovarian cancer and/or a family history suggestive of HBOC syndrome (Wagner T et al. Genomics. 1999 Dec;62:369-76; Fernández-Ramires R et al. Br. J. Cancer. 2009 Oct;101:1469-80; Caux-Moncoutier V et al. Hum. Mutat. 2011 Mar;32:325-34; Gutiérrez Espeleta GA et al. Clin. Genet. 2012 Nov;82:484-8; Kanchi KL et al. Nat Commun. 2014;5:3156; Lu C et al. Nat Commun. 2015 Dec;6:10086; Momozawa Y et al. Nat Commun, 2018 10;9:4083; Palmero EI et al. Sci Rep, 2018 06;8:9188; Rebbeck TR et al. Hum Mutat, 2018 05;39:593-620). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
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Pathogenic
(May 25, 2017)
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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:
germline
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
Accession: SCV000839895.1
First in ClinVar: Nov 05, 2016 Last updated: Nov 05, 2016 |
Comment:
The c.3403C>T (p.Gln1135*) variant in the BRCA1 gene has been reported by multiple clinical laboratories in ClinVar and reviewed by an expert panel as a … (more)
The c.3403C>T (p.Gln1135*) variant in the BRCA1 gene has been reported by multiple clinical laboratories in ClinVar and reviewed by an expert panel as a pathogenic variant (https://www.ncbi.nlm.nih.gov/clinvar/variation/54868/ ). This variant creates a premature stop codon at amino acid position 1135 of the BRCA1 protein. This variant is thus predicted to result in a loss of function of the protein. The variant was detected in one individual from the ExAC database (http://exac.broadinstitute.org/variant/17-41244145-G-A). This variant thus classified as pathogenic. (less)
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Pathogenic
(Mar 28, 2018)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000292936.11
First in ClinVar: Jul 24, 2016 Last updated: Jan 07, 2017 |
Comment:
This pathogenic variant is denoted BRCA1 c.3403C>T at the cDNA level and p.Gln1135Ter (Q1135X) at the protein level. Using alternate nomenclature, this variant would be … (more)
This pathogenic variant is denoted BRCA1 c.3403C>T at the cDNA level and p.Gln1135Ter (Q1135X) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA1 3522C>T. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in association with hereditary breast and ovarian cancer (Judkins 2005, Caux-Moncoutier 2011, Gutierrez Espeleta 2012, Kanchi 2014, Maxwell 2017). We consider it to be pathogenic. (less)
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Pathogenic
(Feb 19, 2018)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast and ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000918683.1
First in ClinVar: Jun 03, 2019 Last updated: Jun 03, 2019 |
Comment:
Variant summary: BRCA1 c.3403C>T (p.Gln1135X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Variant summary: BRCA1 c.3403C>T (p.Gln1135X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g., p.Ile1159fsX6 and p.Glu1161fsX3). The variant was absent in 245838 control chromosomes. The c.3403C>T variant has been reported in the literature in multiple individuals affected with Hereditary Breast and Ovarian Cancer. These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Oct 02, 2015)
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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:
germline
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Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000325650.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(Dec 07, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001592385.4
First in ClinVar: May 10, 2021 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Gln1135*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Gln1135*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 16267036, 21120943, 21895635, 24448499). This variant is also known as 3522C>T. ClinVar contains an entry for this variant (Variation ID: 54868). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Jan 25, 2012)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
|
Sharing Clinical Reports Project (SCRP)
Accession: SCV000109348.2
First in ClinVar: Dec 23, 2013 Last updated: Sep 27, 2014 |
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Pathogenic
(May 29, 2002)
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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: SCV000144753.1
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: 1
Ethnicity/Population group: Caucasian
Geographic origin: Italy
Observation 3:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European
Observation 4:
Number of individuals with the variant: 1
Ethnicity/Population group: Western Europeanan, Central/Eastern European
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Pathogenic
(Jan 31, 2014)
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no assertion criteria provided
Method: research
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Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587309.1 First in ClinVar: Aug 07, 2017 Last updated: Aug 07, 2017 |
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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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Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls. | Momozawa Y | Nature communications | 2018 | PMID: 30287823 |
The germline mutational landscape of BRCA1 and BRCA2 in Brazil. | Palmero EI | Scientific reports | 2018 | PMID: 29907814 |
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
Patterns and functional implications of rare germline variants across 12 cancer types. | Lu C | Nature communications | 2015 | PMID: 26689913 |
Integrated analysis of germline and somatic variants in ovarian cancer. | Kanchi KL | Nature communications | 2014 | PMID: 24448499 |
BRCA1 and BRCA2 mutations among familial breast cancer patients from Costa Rica. | Gutiérrez Espeleta GA | Clinical genetics | 2012 | PMID: 21895635 |
A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes. | Hondow HL | BMC cancer | 2011 | PMID: 21702907 |
EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients. | Caux-Moncoutier V | Human mutation | 2011 | PMID: 21120943 |
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 |
Gene expression profiling integrated into network modelling reveals heterogeneity in the mechanisms of BRCA1 tumorigenesis. | Fernández-Ramires R | British journal of cancer | 2009 | PMID: 19826428 |
Prevalence of BRCA1 and BRCA2 gene mutations in families with medium and high risk of breast and ovarian cancer in Brazil. | Esteves VF | Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas | 2009 | PMID: 19377795 |
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 |
Loss of the inactive X chromosome and replication of the active X in BRCA1-defective and wild-type breast cancer cells. | Sirchia SM | Cancer research | 2005 | PMID: 15781624 |
Detection of germline BRCA1 mutations by Multiple-Dye Cleavase Fragment Length Polymorphism (MD-CFLP) method. | Casadei S | British journal of cancer | 2001 | PMID: 11556835 |
Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations. | Wagner T | Genomics | 1999 | PMID: 10644434 |
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Text-mined citations for rs80357136 ...
HelpRecord last updated Oct 13, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.