ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3485del (p.Asp1162fs)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.3485del (p.Asp1162fs)
Variation ID: 37531 Accession: VCV000037531.88
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43092046 (GRCh38) [ NCBI UCSC ] 17: 41244063 (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 1, 2014 Oct 20, 2024 Sep 8, 2016 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.3485del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Asp1162fs frameshift NM_001407571.1:c.3272del NP_001394500.1:p.Asp1091fs frameshift NM_001407581.1:c.3485del NP_001394510.1:p.Asp1162fs frameshift NM_001407582.1:c.3485del NP_001394511.1:p.Asp1162fs frameshift NM_001407583.1:c.3485del NP_001394512.1:p.Asp1162fs frameshift NM_001407585.1:c.3485del NP_001394514.1:p.Asp1162fs frameshift NM_001407587.1:c.3482del NP_001394516.1:p.Asp1161fs frameshift NM_001407590.1:c.3482del NP_001394519.1:p.Asp1161fs frameshift NM_001407591.1:c.3482del NP_001394520.1:p.Asp1161fs frameshift NM_001407593.1:c.3485del NP_001394522.1:p.Asp1162fs frameshift NM_001407594.1:c.3485del NP_001394523.1:p.Asp1162fs frameshift NM_001407596.1:c.3485del NP_001394525.1:p.Asp1162fs frameshift NM_001407597.1:c.3485del NP_001394526.1:p.Asp1162fs frameshift NM_001407598.1:c.3485del NP_001394527.1:p.Asp1162fs frameshift NM_001407602.1:c.3485del NP_001394531.1:p.Asp1162fs frameshift NM_001407603.1:c.3485del NP_001394532.1:p.Asp1162fs frameshift NM_001407605.1:c.3485del NP_001394534.1:p.Asp1162fs frameshift NM_001407610.1:c.3482del NP_001394539.1:p.Asp1161fs frameshift NM_001407611.1:c.3482del NP_001394540.1:p.Asp1161fs frameshift NM_001407612.1:c.3482del NP_001394541.1:p.Asp1161fs frameshift NM_001407613.1:c.3482del NP_001394542.1:p.Asp1161fs frameshift NM_001407614.1:c.3482del NP_001394543.1:p.Asp1161fs frameshift NM_001407615.1:c.3482del NP_001394544.1:p.Asp1161fs frameshift NM_001407616.1:c.3485del NP_001394545.1:p.Asp1162fs frameshift NM_001407617.1:c.3485del NP_001394546.1:p.Asp1162fs frameshift NM_001407618.1:c.3485del NP_001394547.1:p.Asp1162fs frameshift NM_001407619.1:c.3485del NP_001394548.1:p.Asp1162fs frameshift NM_001407620.1:c.3485del NP_001394549.1:p.Asp1162fs frameshift NM_001407621.1:c.3485del NP_001394550.1:p.Asp1162fs frameshift NM_001407622.1:c.3485del NP_001394551.1:p.Asp1162fs frameshift NM_001407623.1:c.3485del NP_001394552.1:p.Asp1162fs frameshift NM_001407624.1:c.3485del NP_001394553.1:p.Asp1162fs frameshift NM_001407625.1:c.3485del NP_001394554.1:p.Asp1162fs frameshift NM_001407626.1:c.3485del NP_001394555.1:p.Asp1162fs frameshift NM_001407627.1:c.3482del NP_001394556.1:p.Asp1161fs frameshift NM_001407628.1:c.3482del NP_001394557.1:p.Asp1161fs frameshift NM_001407629.1:c.3482del NP_001394558.1:p.Asp1161fs frameshift NM_001407630.1:c.3482del NP_001394559.1:p.Asp1161fs frameshift NM_001407631.1:c.3482del NP_001394560.1:p.Asp1161fs frameshift NM_001407632.1:c.3482del NP_001394561.1:p.Asp1161fs frameshift NM_001407633.1:c.3482del NP_001394562.1:p.Asp1161fs frameshift NM_001407634.1:c.3482del NP_001394563.1:p.Asp1161fs frameshift NM_001407635.1:c.3482del NP_001394564.1:p.Asp1161fs frameshift NM_001407636.1:c.3482del NP_001394565.1:p.Asp1161fs frameshift NM_001407637.1:c.3482del NP_001394566.1:p.Asp1161fs frameshift NM_001407638.1:c.3482del NP_001394567.1:p.Asp1161fs frameshift NM_001407639.1:c.3485del NP_001394568.1:p.Asp1162fs frameshift NM_001407640.1:c.3485del NP_001394569.1:p.Asp1162fs frameshift NM_001407641.1:c.3485del NP_001394570.1:p.Asp1162fs frameshift NM_001407642.1:c.3485del NP_001394571.1:p.Asp1162fs frameshift NM_001407644.1:c.3482del NP_001394573.1:p.Asp1161fs frameshift NM_001407645.1:c.3482del NP_001394574.1:p.Asp1161fs frameshift NM_001407646.1:c.3476del NP_001394575.1:p.Asp1159fs frameshift NM_001407647.1:c.3476del NP_001394576.1:p.Asp1159fs frameshift NM_001407648.1:c.3362del NP_001394577.1:p.Asp1121fs frameshift NM_001407649.1:c.3359del NP_001394578.1:p.Asp1120fs frameshift NM_001407652.1:c.3485del NP_001394581.1:p.Asp1162fs frameshift NM_001407653.1:c.3407del NP_001394582.1:p.Asp1136fs frameshift NM_001407654.1:c.3407del NP_001394583.1:p.Asp1136fs frameshift NM_001407655.1:c.3407del NP_001394584.1:p.Asp1136fs frameshift NM_001407656.1:c.3407del NP_001394585.1:p.Asp1136fs frameshift NM_001407657.1:c.3407del NP_001394586.1:p.Asp1136fs frameshift NM_001407658.1:c.3407del NP_001394587.1:p.Asp1136fs frameshift NM_001407659.1:c.3404del NP_001394588.1:p.Asp1135fs frameshift NM_001407660.1:c.3404del NP_001394589.1:p.Asp1135fs frameshift NM_001407661.1:c.3404del NP_001394590.1:p.Asp1135fs frameshift NM_001407662.1:c.3404del NP_001394591.1:p.Asp1135fs frameshift NM_001407663.1:c.3407del NP_001394592.1:p.Asp1136fs frameshift NM_001407664.1:c.3362del NP_001394593.1:p.Asp1121fs frameshift NM_001407665.1:c.3362del NP_001394594.1:p.Asp1121fs frameshift NM_001407666.1:c.3362del NP_001394595.1:p.Asp1121fs frameshift NM_001407667.1:c.3362del NP_001394596.1:p.Asp1121fs frameshift NM_001407668.1:c.3362del NP_001394597.1:p.Asp1121fs frameshift NM_001407669.1:c.3362del NP_001394598.1:p.Asp1121fs frameshift NM_001407670.1:c.3359del NP_001394599.1:p.Asp1120fs frameshift NM_001407671.1:c.3359del NP_001394600.1:p.Asp1120fs frameshift NM_001407672.1:c.3359del NP_001394601.1:p.Asp1120fs frameshift NM_001407673.1:c.3359del NP_001394602.1:p.Asp1120fs frameshift NM_001407674.1:c.3362del NP_001394603.1:p.Asp1121fs frameshift NM_001407675.1:c.3362del NP_001394604.1:p.Asp1121fs frameshift NM_001407676.1:c.3362del NP_001394605.1:p.Asp1121fs frameshift NM_001407677.1:c.3362del NP_001394606.1:p.Asp1121fs frameshift NM_001407678.1:c.3362del NP_001394607.1:p.Asp1121fs frameshift NM_001407679.1:c.3362del NP_001394608.1:p.Asp1121fs frameshift NM_001407680.1:c.3362del NP_001394609.1:p.Asp1121fs frameshift NM_001407681.1:c.3362del NP_001394610.1:p.Asp1121fs frameshift NM_001407682.1:c.3362del NP_001394611.1:p.Asp1121fs frameshift NM_001407683.1:c.3362del NP_001394612.1:p.Asp1121fs frameshift NM_001407684.1:c.3485del NP_001394613.1:p.Asp1162fs frameshift NM_001407685.1:c.3359del NP_001394614.1:p.Asp1120fs frameshift NM_001407686.1:c.3359del NP_001394615.1:p.Asp1120fs frameshift NM_001407687.1:c.3359del NP_001394616.1:p.Asp1120fs frameshift NM_001407688.1:c.3359del NP_001394617.1:p.Asp1120fs frameshift NM_001407689.1:c.3359del NP_001394618.1:p.Asp1120fs frameshift NM_001407690.1:c.3359del NP_001394619.1:p.Asp1120fs frameshift NM_001407691.1:c.3359del NP_001394620.1:p.Asp1120fs frameshift NM_001407692.1:c.3344del NP_001394621.1:p.Asp1115fs frameshift NM_001407694.1:c.3344del NP_001394623.1:p.Asp1115fs frameshift NM_001407695.1:c.3344del NP_001394624.1:p.Asp1115fs frameshift NM_001407696.1:c.3344del NP_001394625.1:p.Asp1115fs frameshift NM_001407697.1:c.3344del NP_001394626.1:p.Asp1115fs frameshift NM_001407698.1:c.3344del NP_001394627.1:p.Asp1115fs frameshift NM_001407724.1:c.3344del NP_001394653.1:p.Asp1115fs frameshift NM_001407725.1:c.3344del NP_001394654.1:p.Asp1115fs frameshift NM_001407726.1:c.3344del NP_001394655.1:p.Asp1115fs frameshift NM_001407727.1:c.3344del NP_001394656.1:p.Asp1115fs frameshift NM_001407728.1:c.3344del NP_001394657.1:p.Asp1115fs frameshift NM_001407729.1:c.3344del NP_001394658.1:p.Asp1115fs frameshift NM_001407730.1:c.3344del NP_001394659.1:p.Asp1115fs frameshift NM_001407731.1:c.3344del NP_001394660.1:p.Asp1115fs frameshift NM_001407732.1:c.3344del NP_001394661.1:p.Asp1115fs frameshift NM_001407733.1:c.3344del NP_001394662.1:p.Asp1115fs frameshift NM_001407734.1:c.3344del NP_001394663.1:p.Asp1115fs frameshift NM_001407735.1:c.3344del NP_001394664.1:p.Asp1115fs frameshift NM_001407736.1:c.3344del NP_001394665.1:p.Asp1115fs frameshift NM_001407737.1:c.3344del NP_001394666.1:p.Asp1115fs frameshift NM_001407738.1:c.3344del NP_001394667.1:p.Asp1115fs frameshift NM_001407739.1:c.3344del NP_001394668.1:p.Asp1115fs frameshift NM_001407740.1:c.3341del NP_001394669.1:p.Asp1114fs frameshift NM_001407741.1:c.3341del NP_001394670.1:p.Asp1114fs frameshift NM_001407742.1:c.3341del NP_001394671.1:p.Asp1114fs frameshift NM_001407743.1:c.3341del NP_001394672.1:p.Asp1114fs frameshift NM_001407744.1:c.3341del NP_001394673.1:p.Asp1114fs frameshift NM_001407745.1:c.3341del NP_001394674.1:p.Asp1114fs frameshift NM_001407746.1:c.3341del NP_001394675.1:p.Asp1114fs frameshift NM_001407747.1:c.3341del NP_001394676.1:p.Asp1114fs frameshift NM_001407748.1:c.3341del NP_001394677.1:p.Asp1114fs frameshift NM_001407749.1:c.3341del NP_001394678.1:p.Asp1114fs frameshift NM_001407750.1:c.3344del NP_001394679.1:p.Asp1115fs frameshift NM_001407751.1:c.3344del NP_001394680.1:p.Asp1115fs frameshift NM_001407752.1:c.3344del NP_001394681.1:p.Asp1115fs frameshift NM_001407838.1:c.3341del NP_001394767.1:p.Asp1114fs frameshift NM_001407839.1:c.3341del NP_001394768.1:p.Asp1114fs frameshift NM_001407841.1:c.3341del NP_001394770.1:p.Asp1114fs frameshift NM_001407842.1:c.3341del NP_001394771.1:p.Asp1114fs frameshift NM_001407843.1:c.3341del NP_001394772.1:p.Asp1114fs frameshift NM_001407844.1:c.3341del NP_001394773.1:p.Asp1114fs frameshift NM_001407845.1:c.3341del NP_001394774.1:p.Asp1114fs frameshift NM_001407846.1:c.3341del NP_001394775.1:p.Asp1114fs frameshift NM_001407847.1:c.3341del NP_001394776.1:p.Asp1114fs frameshift NM_001407848.1:c.3341del NP_001394777.1:p.Asp1114fs frameshift NM_001407849.1:c.3341del NP_001394778.1:p.Asp1114fs frameshift NM_001407850.1:c.3344del NP_001394779.1:p.Asp1115fs frameshift NM_001407851.1:c.3344del NP_001394780.1:p.Asp1115fs frameshift NM_001407852.1:c.3344del NP_001394781.1:p.Asp1115fs frameshift NM_001407853.1:c.3272del NP_001394782.1:p.Asp1091fs frameshift NM_001407854.1:c.3485del NP_001394783.1:p.Asp1162fs frameshift NM_001407858.1:c.3485del NP_001394787.1:p.Asp1162fs frameshift NM_001407859.1:c.3485del NP_001394788.1:p.Asp1162fs frameshift NM_001407860.1:c.3482del NP_001394789.1:p.Asp1161fs frameshift NM_001407861.1:c.3482del NP_001394790.1:p.Asp1161fs frameshift NM_001407862.1:c.3284del NP_001394791.1:p.Asp1095fs frameshift NM_001407863.1:c.3362del NP_001394792.1:p.Asp1121fs frameshift NM_001407874.1:c.3281del NP_001394803.1:p.Asp1094fs frameshift NM_001407875.1:c.3281del NP_001394804.1:p.Asp1094fs frameshift NM_001407879.1:c.3275del NP_001394808.1:p.Asp1092fs frameshift NM_001407881.1:c.3275del NP_001394810.1:p.Asp1092fs frameshift NM_001407882.1:c.3275del NP_001394811.1:p.Asp1092fs frameshift NM_001407884.1:c.3275del NP_001394813.1:p.Asp1092fs frameshift NM_001407885.1:c.3275del NP_001394814.1:p.Asp1092fs frameshift NM_001407886.1:c.3275del NP_001394815.1:p.Asp1092fs frameshift NM_001407887.1:c.3275del NP_001394816.1:p.Asp1092fs frameshift NM_001407889.1:c.3275del NP_001394818.1:p.Asp1092fs frameshift NM_001407894.1:c.3272del NP_001394823.1:p.Asp1091fs frameshift NM_001407895.1:c.3272del NP_001394824.1:p.Asp1091fs frameshift NM_001407896.1:c.3272del NP_001394825.1:p.Asp1091fs frameshift NM_001407897.1:c.3272del NP_001394826.1:p.Asp1091fs frameshift NM_001407898.1:c.3272del NP_001394827.1:p.Asp1091fs frameshift NM_001407899.1:c.3272del NP_001394828.1:p.Asp1091fs frameshift NM_001407900.1:c.3275del NP_001394829.1:p.Asp1092fs frameshift NM_001407902.1:c.3275del NP_001394831.1:p.Asp1092fs frameshift NM_001407904.1:c.3275del NP_001394833.1:p.Asp1092fs frameshift NM_001407906.1:c.3275del NP_001394835.1:p.Asp1092fs frameshift NM_001407907.1:c.3275del NP_001394836.1:p.Asp1092fs frameshift NM_001407908.1:c.3275del NP_001394837.1:p.Asp1092fs frameshift NM_001407909.1:c.3275del NP_001394838.1:p.Asp1092fs frameshift NM_001407910.1:c.3275del NP_001394839.1:p.Asp1092fs frameshift NM_001407915.1:c.3272del NP_001394844.1:p.Asp1091fs frameshift NM_001407916.1:c.3272del NP_001394845.1:p.Asp1091fs frameshift NM_001407917.1:c.3272del NP_001394846.1:p.Asp1091fs frameshift NM_001407918.1:c.3272del NP_001394847.1:p.Asp1091fs frameshift NM_001407919.1:c.3362del NP_001394848.1:p.Asp1121fs frameshift NM_001407920.1:c.3221del NP_001394849.1:p.Asp1074fs frameshift NM_001407921.1:c.3221del NP_001394850.1:p.Asp1074fs frameshift NM_001407922.1:c.3221del NP_001394851.1:p.Asp1074fs frameshift NM_001407923.1:c.3221del NP_001394852.1:p.Asp1074fs frameshift NM_001407924.1:c.3221del NP_001394853.1:p.Asp1074fs frameshift NM_001407925.1:c.3221del NP_001394854.1:p.Asp1074fs frameshift NM_001407926.1:c.3221del NP_001394855.1:p.Asp1074fs frameshift NM_001407927.1:c.3221del NP_001394856.1:p.Asp1074fs frameshift NM_001407928.1:c.3221del NP_001394857.1:p.Asp1074fs frameshift NM_001407929.1:c.3221del NP_001394858.1:p.Asp1074fs frameshift NM_001407930.1:c.3218del NP_001394859.1:p.Asp1073fs frameshift NM_001407931.1:c.3218del NP_001394860.1:p.Asp1073fs frameshift NM_001407932.1:c.3218del NP_001394861.1:p.Asp1073fs frameshift NM_001407933.1:c.3221del NP_001394862.1:p.Asp1074fs frameshift NM_001407934.1:c.3218del NP_001394863.1:p.Asp1073fs frameshift NM_001407935.1:c.3221del NP_001394864.1:p.Asp1074fs frameshift NM_001407936.1:c.3218del NP_001394865.1:p.Asp1073fs frameshift NM_001407937.1:c.3362del NP_001394866.1:p.Asp1121fs frameshift NM_001407938.1:c.3362del NP_001394867.1:p.Asp1121fs frameshift NM_001407939.1:c.3362del NP_001394868.1:p.Asp1121fs frameshift NM_001407940.1:c.3359del NP_001394869.1:p.Asp1120fs frameshift NM_001407941.1:c.3359del NP_001394870.1:p.Asp1120fs frameshift NM_001407942.1:c.3344del NP_001394871.1:p.Asp1115fs frameshift NM_001407943.1:c.3341del NP_001394872.1:p.Asp1114fs frameshift NM_001407944.1:c.3344del NP_001394873.1:p.Asp1115fs frameshift NM_001407945.1:c.3344del NP_001394874.1:p.Asp1115fs frameshift NM_001407946.1:c.3152del NP_001394875.1:p.Asp1051fs frameshift NM_001407947.1:c.3152del NP_001394876.1:p.Asp1051fs frameshift NM_001407948.1:c.3152del NP_001394877.1:p.Asp1051fs frameshift NM_001407949.1:c.3152del NP_001394878.1:p.Asp1051fs frameshift NM_001407950.1:c.3152del NP_001394879.1:p.Asp1051fs frameshift NM_001407951.1:c.3152del NP_001394880.1:p.Asp1051fs frameshift NM_001407952.1:c.3152del NP_001394881.1:p.Asp1051fs frameshift NM_001407953.1:c.3152del NP_001394882.1:p.Asp1051fs frameshift NM_001407954.1:c.3149del NP_001394883.1:p.Asp1050fs frameshift NM_001407955.1:c.3149del NP_001394884.1:p.Asp1050fs frameshift NM_001407956.1:c.3149del NP_001394885.1:p.Asp1050fs frameshift NM_001407957.1:c.3152del NP_001394886.1:p.Asp1051fs frameshift NM_001407958.1:c.3149del NP_001394887.1:p.Asp1050fs frameshift NM_001407959.1:c.3104del NP_001394888.1:p.Asp1035fs frameshift NM_001407960.1:c.3104del NP_001394889.1:p.Asp1035fs frameshift NM_001407962.1:c.3101del NP_001394891.1:p.Asp1034fs frameshift NM_001407963.1:c.3104del NP_001394892.1:p.Asp1035fs frameshift NM_001407964.1:c.3341del NP_001394893.1:p.Asp1114fs frameshift NM_001407965.1:c.2981del NP_001394894.1:p.Asp994fs frameshift NM_001407966.1:c.2597del NP_001394895.1:p.Asp866fs frameshift NM_001407967.1:c.2597del NP_001394896.1:p.Asp866fs frameshift NM_001407968.1:c.881del NP_001394897.1:p.Asp294fs frameshift NM_001407969.1:c.881del NP_001394898.1:p.Asp294fs frameshift NM_001407970.1:c.788-1014del intron variant NM_001407971.1:c.788-1014del intron variant NM_001407972.1:c.785-1014del intron variant NM_001407973.1:c.788-1014del intron variant NM_001407974.1:c.788-1014del intron variant NM_001407975.1:c.788-1014del intron variant NM_001407976.1:c.788-1014del intron variant NM_001407977.1:c.788-1014del intron variant NM_001407978.1:c.788-1014del intron variant NM_001407979.1:c.788-1014del intron variant NM_001407980.1:c.788-1014del intron variant NM_001407981.1:c.788-1014del intron variant NM_001407982.1:c.788-1014del intron variant NM_001407983.1:c.788-1014del intron variant NM_001407984.1:c.785-1014del intron variant NM_001407985.1:c.785-1014del intron variant NM_001407986.1:c.785-1014del intron variant NM_001407990.1:c.788-1014del intron variant NM_001407991.1:c.785-1014del intron variant NM_001407992.1:c.785-1014del intron variant NM_001407993.1:c.788-1014del intron variant NM_001408392.1:c.785-1014del intron variant NM_001408396.1:c.785-1014del intron variant NM_001408397.1:c.785-1014del intron variant NM_001408398.1:c.785-1014del intron variant NM_001408399.1:c.785-1014del intron variant NM_001408400.1:c.785-1014del intron variant NM_001408401.1:c.785-1014del intron variant NM_001408402.1:c.785-1014del intron variant NM_001408403.1:c.788-1014del intron variant NM_001408404.1:c.788-1014del intron variant NM_001408406.1:c.791-1023del intron variant NM_001408407.1:c.785-1014del intron variant NM_001408408.1:c.779-1014del intron variant NM_001408409.1:c.710-1014del intron variant NM_001408410.1:c.647-1014del intron variant NM_001408411.1:c.710-1014del intron variant NM_001408412.1:c.710-1014del intron variant NM_001408413.1:c.707-1014del intron variant NM_001408414.1:c.710-1014del intron variant NM_001408415.1:c.710-1014del intron variant NM_001408416.1:c.707-1014del intron variant NM_001408418.1:c.671-1014del intron variant NM_001408419.1:c.671-1014del intron variant NM_001408420.1:c.671-1014del intron variant NM_001408421.1:c.668-1014del intron variant NM_001408422.1:c.671-1014del intron variant NM_001408423.1:c.671-1014del intron variant NM_001408424.1:c.668-1014del intron variant NM_001408425.1:c.665-1014del intron variant NM_001408426.1:c.665-1014del intron variant NM_001408427.1:c.665-1014del intron variant NM_001408428.1:c.665-1014del intron variant NM_001408429.1:c.665-1014del intron variant NM_001408430.1:c.665-1014del intron variant NM_001408431.1:c.668-1014del intron variant NM_001408432.1:c.662-1014del intron variant NM_001408433.1:c.662-1014del intron variant NM_001408434.1:c.662-1014del intron variant NM_001408435.1:c.662-1014del intron variant NM_001408436.1:c.665-1014del intron variant NM_001408437.1:c.665-1014del intron variant NM_001408438.1:c.665-1014del intron variant NM_001408439.1:c.665-1014del intron variant NM_001408440.1:c.665-1014del intron variant NM_001408441.1:c.665-1014del intron variant NM_001408442.1:c.665-1014del intron variant NM_001408443.1:c.665-1014del intron variant NM_001408444.1:c.665-1014del intron variant NM_001408445.1:c.662-1014del intron variant NM_001408446.1:c.662-1014del intron variant NM_001408447.1:c.662-1014del intron variant NM_001408448.1:c.662-1014del intron variant NM_001408450.1:c.662-1014del intron variant NM_001408451.1:c.653-1014del intron variant NM_001408452.1:c.647-1014del intron variant NM_001408453.1:c.647-1014del intron variant NM_001408454.1:c.647-1014del intron variant NM_001408455.1:c.647-1014del intron variant NM_001408456.1:c.647-1014del intron variant NM_001408457.1:c.647-1014del intron variant NM_001408458.1:c.647-1014del intron variant NM_001408459.1:c.647-1014del intron variant NM_001408460.1:c.647-1014del intron variant NM_001408461.1:c.647-1014del intron variant NM_001408462.1:c.644-1014del intron variant NM_001408463.1:c.644-1014del intron variant NM_001408464.1:c.644-1014del intron variant NM_001408465.1:c.644-1014del intron variant NM_001408466.1:c.647-1014del intron variant NM_001408467.1:c.647-1014del intron variant NM_001408468.1:c.644-1014del intron variant NM_001408469.1:c.647-1014del intron variant NM_001408470.1:c.644-1014del intron variant NM_001408472.1:c.788-1014del intron variant NM_001408473.1:c.785-1014del intron variant NM_001408474.1:c.587-1014del intron variant NM_001408475.1:c.584-1014del intron variant NM_001408476.1:c.587-1014del intron variant NM_001408478.1:c.578-1014del intron variant NM_001408479.1:c.578-1014del intron variant NM_001408480.1:c.578-1014del intron variant NM_001408481.1:c.578-1014del intron variant NM_001408482.1:c.578-1014del intron variant NM_001408483.1:c.578-1014del intron variant NM_001408484.1:c.578-1014del intron variant NM_001408485.1:c.578-1014del intron variant NM_001408489.1:c.578-1014del intron variant NM_001408490.1:c.575-1014del intron variant NM_001408491.1:c.575-1014del intron variant NM_001408492.1:c.578-1014del intron variant NM_001408493.1:c.575-1014del intron variant NM_001408494.1:c.548-1014del intron variant NM_001408495.1:c.545-1014del intron variant NM_001408496.1:c.524-1014del intron variant NM_001408497.1:c.524-1014del intron variant NM_001408498.1:c.524-1014del intron variant NM_001408499.1:c.524-1014del intron variant NM_001408500.1:c.524-1014del intron variant NM_001408501.1:c.524-1014del intron variant NM_001408502.1:c.455-1014del intron variant NM_001408503.1:c.521-1014del intron variant NM_001408504.1:c.521-1014del intron variant NM_001408505.1:c.521-1014del intron variant NM_001408506.1:c.461-1014del intron variant NM_001408507.1:c.461-1014del intron variant NM_001408508.1:c.452-1014del intron variant NM_001408509.1:c.452-1014del intron variant NM_001408510.1:c.407-1014del intron variant NM_001408511.1:c.404-1014del intron variant NM_001408512.1:c.284-1014del intron variant NM_001408513.1:c.578-1014del intron variant NM_001408514.1:c.578-1014del intron variant NM_007297.4:c.3344del NP_009228.2:p.Asp1115fs frameshift NM_007298.4:c.788-1014del intron variant NM_007299.4:c.788-1014del intron variant NM_007300.4:c.3485del NP_009231.2:p.Asp1162fs frameshift NR_027676.1:n.3621delA NC_000017.11:g.43092046del NC_000017.10:g.41244063del NG_005905.2:g.125938del NG_087068.1:g.1028del LRG_292:g.125938del LRG_292t1:c.3485del LRG_292p1:p.Asp1162Valfs U14680.1:n.3604delA - Protein change
- D1115fs, D1162fs, D1092fs, D1095fs, D1114fs, D1120fs, D1121fs, D1135fs, D294fs, D1074fs, D1094fs, D1136fs, D1161fs, D866fs, D1034fs, D1035fs, D1050fs, D1051fs, D1073fs, D1091fs, D1159fs, D994fs
- Other names
-
3604delA
- Canonical SPDI
- NC_000017.11:43092045:T:
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00000
The Genome Aggregation Database (gnomAD) 0.00001
- Links
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 |
13041 | 14847 | |
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 (11) |
reviewed by expert panel
|
Sep 8, 2016 | RCV000031112.25 | |
Pathogenic (6) |
criteria provided, multiple submitters, no conflicts
|
Dec 28, 2023 | RCV000048213.30 | |
Pathogenic (7) |
criteria provided, multiple submitters, no conflicts
|
Apr 1, 2023 | RCV000159918.36 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Jun 5, 2024 | RCV000220121.18 | |
Pathogenic (1) |
no assertion criteria provided
|
- | RCV000408844.10 |
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
(Sep 08, 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: SCV000299952.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
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Pathogenic
(Mar 07, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000210041.15
First in ClinVar: Feb 24, 2015 Last updated: Mar 26, 2023 |
Comment:
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed … (more)
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed in hereditary breast and ovarian cancer families, and is a common variant in Finnish and Dutch populations (Peelen et al., 1997; Vehmanen et al., 1997; Syrjakoski et al., 2000; Janavicius et al., 2010; Brohet et al., 2014); Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 3604delA; This variant is associated with the following publications: (PMID: 23199084, 16683254, 30927251, 29922827, 28888541, 9667259, 24285858, 26681312, 9361038, 10995809, 25452441, 28324225, 11773283, 30720243, 30322717, 9150151, 11597388, 33558524, 24010542, 34697415) (less)
|
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Pathogenic
(May 27, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
Accession: SCV005045941.1
First in ClinVar: Jun 02, 2024 Last updated: Jun 02, 2024 |
Comment:
PVS1; PM5_PTC_Strong
|
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Pathogenic
(Jun 05, 2024)
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criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000273760.8
First in ClinVar: May 29, 2016 Last updated: Aug 11, 2024 |
Comment:
The c.3485delA (p.D1162Vfs*48) alteration, located in exon 10 (coding exon 9) of the BRCA1 gene, consists of a deletion of one nucleotide at position 3485, … (more)
The c.3485delA (p.D1162Vfs*48) alteration, located in exon 10 (coding exon 9) of the BRCA1 gene, consists of a deletion of one nucleotide at position 3485, causing a translational frameshift with a predicted alternate stop codon after 48 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from gnomAD, this allele has an overall frequency of <0.001% (1/251278) total alleles studied. The highest observed frequency was 0.001% (1/113680) of European (non-Finnish) alleles. This variant has been reported in multiple hereditary breast and ovarian cancer (HBOC) families (Peelen, 1997; Vehmanen, 1997; Frank, 1998; Ligtenberg, 1999; Sarantaus, 2001; Verhoog, 2001; Meindl, 2002; Meisel, 2017; Carter, 2018; Nurmi, 2019; Moradian, 2021; Breast Cancer Association, 2021). Of note, this alteration is also designated as 3604delA in published literature. Based on the available evidence, this alteration is classified as pathogenic. (less)
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Pathogenic
(Sep 21, 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: yes
Allele origin:
germline
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000744634.1 First in ClinVar: Apr 19, 2018 Last updated: Apr 19, 2018 |
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Pathogenic
(Jan 27, 2017)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
(Autosomal dominant inheritance)
Affected status: not provided
Allele origin:
germline
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000605763.2
First in ClinVar: Aug 05, 2017 Last updated: Dec 26, 2017 |
Comment:
The p.Asp1162fs variant in BRCA1 has been reported in >30 individuals with BRCA1 -associated cancers (Peelen 1997, Breast Cancer Information Core (BIC) database) and was … (more)
The p.Asp1162fs variant in BRCA1 has been reported in >30 individuals with BRCA1 -associated cancers (Peelen 1997, Breast Cancer Information Core (BIC) database) and was absent from large population studies. This variant is predicted to caus e a frameshift, which alters the protein?s amino acid sequence beginning at posi tion 1162 and leads to a premature termination codon 48 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Hete rozygous loss of function of function of the BRCA1 gene is an established diseas e mechanism in hereditary breast and ovarian cancer (HBOC). In addition, this va riant was classified as Pathogenic on September 8, 2016 by the ClinGen-approved ENIGMA expert panel (ClinVar SCV000299952.2). In summary, the p.Asp1162fs varian t meets criteria to be classified as pathogenic for HBOC in an autosomal dominan t manner. (less)
Number of individuals with the variant: 1
|
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Pathogenic
(Jun 04, 2021)
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criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004211751.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Pathogenic
(Jan 24, 2022)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000600335.4
First in ClinVar: Jul 24, 2016 Last updated: Jan 06, 2024 |
Comment:
This frameshift variant alters the translational reading frame of the BRCA1 mRNA and causes the premature termination of BRCA1 protein synthesis. This variant has not … (more)
This frameshift variant alters the translational reading frame of the BRCA1 mRNA and causes the premature termination of BRCA1 protein synthesis. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, the variant has been reported in individuals with a personal or family history of breast and/or ovarian cancer (PMIDs: 28324225 (2017), 26681312 (2015), 25452441 (2015), 23192404 (2013), 9150151 (1997)). Based on the available information, this variant is classified as pathogenic. (less)
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Pathogenic
(Dec 02, 2022)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
|
Revvity Omics, Revvity
Accession: SCV003810355.2
First in ClinVar: Mar 04, 2023 Last updated: Feb 04, 2024 |
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Pathogenic
(Mar 21, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000688438.4
First in ClinVar: Feb 19, 2018 Last updated: Feb 14, 2024 |
Comment:
This variant deletes 1 nucleotide in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to … (more)
This variant deletes 1 nucleotide in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in individuals and families affected with breast and/or ovarian cancer (PMID: 9150151, 9361038, 9667259, 10995809, 16683254, 24285858, 25452441, 26681312, 28324225, 30322717, 30927251). This variant has been identified in 81 families among the CIMBA participants (PMID: 29446198) (https://cimba.ccge.medschl.cam.ac.uk/). A large breast cancer case-control study (PMID: 33471991) has reported this variant in 5/60461 cases and 0/53461 controls. This variant has been identified in 1/251278 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
(Oct 23, 2020)
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criteria provided, single submitter
Method: clinical testing
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not provided
(Unknown mechanism)
Affected status: yes
Allele origin:
germline
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV001447283.1
First in ClinVar: Nov 28, 2020 Last updated: Nov 28, 2020 |
Clinical Features:
Ovarian neoplasm (present)
Sex: female
|
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Pathogenic
(Aug 06, 2021)
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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: SCV000699038.2
First in ClinVar: Dec 26, 2017 Last updated: Sep 08, 2021 |
Comment:
Variant summary: BRCA1 c.3485delA (p.Asp1162ValfsX48) 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.3485delA (p.Asp1162ValfsX48) 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. The variant allele was found at a frequency of 4e-06 in 251278 control chromosomes. c.3485delA has been reported in the literature in multiple individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (e.g. Vehmanen_1997, Peelen_1997, Judkins_2005, Rummel_2013). These data indicate that the variant is very likely to be associated with disease. Twelve 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. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Aug 28, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV002047830.1
First in ClinVar: Jan 08, 2022 Last updated: Jan 08, 2022 |
Comment:
The BRCA1 c.3485delA; p.Asp1162ValfsTer48 variant (rs803575090), also published as 3604delA, is reported in the literature in several individuals and families with hereditary breast and ovarian … (more)
The BRCA1 c.3485delA; p.Asp1162ValfsTer48 variant (rs803575090), also published as 3604delA, is reported in the literature in several individuals and families with hereditary breast and ovarian cancer (Carter 2018, Couch 2015, Meisel 2017, Susswein 2016). The variant is reported in the ClinVar database (Variation ID: 37531) and is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. This variant causes a frameshift by deleting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. References: Carter NJ et al. Germline pathogenic variants identified in women with ovarian tumors. Gynecol Oncol. 2018 Dec;151(3):481-488. PMID: 30322717. Couch FJ et al. Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. J Clin Oncol. 2015 Feb 1;33(4):304-11. PMID: 25452441. Meisel C et al. Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study. Arch Gynecol Obstet. 2017 May;295(5):1227-1238. PMID: 28324225. Susswein LR et al. Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. Genet Med. 2016 Aug;18(8):823-32. PMID: 26681312. (less)
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Pathogenic
(Oct 02, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000325669.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
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Pathogenic
(Aug 01, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
unknown
|
Unidad Asesoramiento Genetico Oncologico Falp, Instituto Oncologico Fundacion Arturo Lopez Perez
Accession: SCV004024157.1
First in ClinVar: Aug 13, 2023 Last updated: Aug 13, 2023 |
|
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Pathogenic
(Dec 28, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000076226.13
First in ClinVar: Jul 03, 2013 Last updated: Feb 20, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Asp1162Valfs*48) 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.Asp1162Valfs*48) 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 present in population databases (rs80357509, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 9150151, 16683254, 24010542, 25452441, 26681312). This variant is also known as 3604delA, c.3625delA, and 3741delA. ClinVar contains an entry for this variant (Variation ID: 37531). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Apr 01, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV004009794.12
First in ClinVar: Jul 16, 2023 Last updated: Oct 20, 2024 |
Comment:
BRCA1: PVS1, PS4:Moderate, PP1
Number of individuals with the variant: 1
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Familial cancer of breast
Affected status: yes
Allele origin:
germline
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Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
Accession: SCV000484951.1
First in ClinVar: Dec 18, 2016 Last updated: Dec 18, 2016 |
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Pathogenic
(-)
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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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Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000733627.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
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Pathogenic
(Apr 08, 2020)
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no assertion criteria provided
Method: research
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Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
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Center of Medical Genetics and Primary Health Care
Accession: SCV000987232.3
First in ClinVar: Mar 01, 2020 Last updated: Mar 01, 2020 |
Comment:
ACMG Guidelines 2015 criteria The BRCA1 p.Asp1162Valfs variant is a known pathogenic variant also in exon 11 in a non-functional domain just before the BRSTCANCERI … (more)
ACMG Guidelines 2015 criteria The BRCA1 p.Asp1162Valfs variant is a known pathogenic variant also in exon 11 in a non-functional domain just before the BRSTCANCERI domain (S1180-1200Q aa) (PMID: 10198641) and in a mutational hotspot with 34 pathogenic variants (PM1 Pathogenic Moderate). The deletion causes a frameshift, which changes an Aspartic Acid to a Valine at codon 1162, and creates a premature stop codon at position 48 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay which is an established disease mechanism in hereditary breast and ovarian cancer (PVS1 Pathogenic Very Strong). The allele frequency in GnomAD exomes is 0.00000398 which is less the threshold 0.0001 for recessive gene BRCA1, and the variant is not found in GnomAD genomes (PM2 Pathogenic Moderate). The variant has been classified as pathogenic by the ClinGen-approved ENIGMA expert panel (ClinVar SCV000299952.2) (PP5 Pathogenic Supporting). 1 pathogenic prediction from GERP versus no benign prediction supports its deleterious effect (PP3 Pathogenic Supporting). In this study the variant Asp1162Valfs was found in a 51- year-old female with unilateral breast cancer and strong family history. Therefore, this variant was classified as a Pathogenic. (less)
Age: 50-59 years
Sex: female
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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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: SCV001905790.1 First in ClinVar: Sep 23, 2021 Last updated: Sep 23, 2021 |
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Pathogenic
(Mar 02, 2020)
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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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BRCAlab, Lund University
Accession: SCV004244043.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
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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: SCV000144775.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 12
Observation 2:
Number of individuals with the variant: 2
Geographic origin: Netherlands
Observation 3:
Number of individuals with the variant: 2
Geographic origin: France
Observation 4:
Number of individuals with the variant: 2
Ethnicity/Population group: Caucasian
Geographic origin: Netherlands
Observation 5:
Number of individuals with the variant: 4
Ethnicity/Population group: Caucasian
Geographic origin: Germany
Observation 6:
Number of individuals with the variant: 1
Ethnicity/Population group: Central/Eastern European
Observation 7:
Number of individuals with the variant: 1
Ethnicity/Population group: Native American
Observation 8:
Number of individuals with the variant: 13
Ethnicity/Population group: Western European
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Pathogenic
(Aug 01, 2015)
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no assertion criteria provided
Method: research
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BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer
Affected status: no
Allele origin:
germline
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Curoverse
Accession: SCV000245336.1
First in ClinVar: Aug 31, 2015 Last updated: Aug 31, 2015 |
Comment:
Frameshifts in BRCA1 are considered pathogenic, and this is a BRCA1 Asp1162Val frameshift variant in exon 10
Number of individuals with the variant: 1
Age: 20-29 years
Sex: male
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Pathogenic
(Apr 16, 2014)
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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
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Sharing Clinical Reports Project (SCRP)
Accession: SCV000053709.6
First in ClinVar: Apr 04, 2013 Last updated: Sep 27, 2014 |
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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
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Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587316.1 First in ClinVar: Aug 05, 2017 Last updated: Aug 05, 2017 |
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not provided
(-)
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no classification provided
Method: phenotyping only
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
unknown
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GenomeConnect - Invitae Patient Insights Network
Accession: SCV004228727.1
First in ClinVar: Jan 26, 2024 Last updated: Jan 26, 2024 |
Comment:
Variant interpreted as Pathogenic and reported on 07-16-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided … (more)
Variant interpreted as Pathogenic and reported on 07-16-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. (less)
Clinical Features:
Melanoma (present)
Indication for testing: Presymptomatic, Family Testing
Age: 30-39 years
Sex: female
Method: Gene Panel Sequencing
Testing laboratory: Invitae
Date variant was reported to submitter: 2020-07-16
Testing laboratory interpretation: Pathogenic
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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 mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer. | Moradian MM | Human genome variation | 2021 | PMID: 33558524 |
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. | Breast Cancer Association Consortium | The New England journal of medicine | 2021 | PMID: 33471991 |
Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients. | Nurmi A | International journal of cancer | 2019 | PMID: 30927251 |
Germline pathogenic variants identified in women with ovarian tumors. | Carter NJ | Gynecologic oncology | 2018 | PMID: 30322717 |
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study. | Meisel C | Archives of gynecology and obstetrics | 2017 | PMID: 28324225 |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. | Susswein LR | Genetics in medicine : official journal of the American College of Medical Genetics | 2016 | PMID: 26681312 |
Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. | Couch FJ | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2015 | PMID: 25452441 |
Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations. | Brohet RM | Journal of medical genetics | 2014 | PMID: 24285858 |
High prevalence of BRCA1 founder mutations in Greek breast/ovarian families. | Konstantopoulou I | Clinical genetics | 2014 | PMID: 24010542 |
Evaluation of BRCA1 mutations in an unselected patient population with triple-negative breast cancer. | Rummel S | Breast cancer research and treatment | 2013 | PMID: 23192404 |
Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families. | Novaković S | International journal of oncology | 2012 | PMC3583621 |
Management of women with BRCA mutations: a 41-year-old woman with a BRCA mutation and a recent history of breast cancer. | Tung N | JAMA | 2011 | PMID: 21558506 |
Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. | Janavičius R | The EPMA journal | 2010 | PMID: 23199084 |
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 |
A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting. | van der Hout AH | Human mutation | 2006 | PMID: 16683254 |
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 |
Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. | Meindl A | International journal of cancer | 2002 | PMID: 11802209 |
Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families. | Verhoog LC | European journal of cancer (Oxford, England : 1990) | 2001 | PMID: 11597388 |
BRCA1 and BRCA2 mutations among 233 unselected Finnish ovarian carcinoma patients. | Sarantaus L | European journal of human genetics : EJHG | 2001 | PMID: 11436123 |
Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland. | Sarantaus L | European journal of human genetics : EJHG | 2000 | PMID: 11039575 |
Population-based study of BRCA1 and BRCA2 mutations in 1035 unselected Finnish breast cancer patients. | Syrjäkoski K | Journal of the National Cancer Institute | 2000 | PMID: 10995809 |
Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2. | Ligtenberg MJ | British journal of cancer | 1999 | PMID: 10188893 |
Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk. | Frank TS | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 1998 | PMID: 9667259 |
Low proportion of BRCA1 and BRCA2 mutations in Finnish breast cancer families: evidence for additional susceptibility genes. | Vehmanen P | Human molecular genetics | 1997 | PMID: 9361038 |
A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. | Peelen T | American journal of human genetics | 1997 | PMID: 9150151 |
http://jama.jamanetwork.com/article.aspx?articleid=2214084 | - | - | - | - |
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Text-mined citations for rs80357509 ...
HelpRecord last updated Nov 03, 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.