ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3604del (p.Tyr1202fs)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.3604del (p.Tyr1202fs)
Variation ID: 266391 Accession: VCV000266391.8
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43091927 (GRCh38) [ NCBI UCSC ] 17: 41243944 (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 Oct 22, 2016 Feb 14, 2024 Oct 18, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.3604del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Tyr1202fs frameshift NM_001407571.1:c.3391del NP_001394500.1:p.Tyr1131fs frameshift NM_001407581.1:c.3604del NP_001394510.1:p.Tyr1202fs frameshift NM_001407582.1:c.3604del NP_001394511.1:p.Tyr1202fs frameshift NM_001407583.1:c.3604del NP_001394512.1:p.Tyr1202fs frameshift NM_001407585.1:c.3604del NP_001394514.1:p.Tyr1202fs frameshift NM_001407587.1:c.3601del NP_001394516.1:p.Tyr1201fs frameshift NM_001407590.1:c.3601del NP_001394519.1:p.Tyr1201fs frameshift NM_001407591.1:c.3601del NP_001394520.1:p.Tyr1201fs frameshift NM_001407593.1:c.3604del NP_001394522.1:p.Tyr1202fs frameshift NM_001407594.1:c.3604del NP_001394523.1:p.Tyr1202fs frameshift NM_001407596.1:c.3604del NP_001394525.1:p.Tyr1202fs frameshift NM_001407597.1:c.3604del NP_001394526.1:p.Tyr1202fs frameshift NM_001407598.1:c.3604del NP_001394527.1:p.Tyr1202fs frameshift NM_001407602.1:c.3604del NP_001394531.1:p.Tyr1202fs frameshift NM_001407603.1:c.3604del NP_001394532.1:p.Tyr1202fs frameshift NM_001407605.1:c.3604del NP_001394534.1:p.Tyr1202fs frameshift NM_001407610.1:c.3601del NP_001394539.1:p.Tyr1201fs frameshift NM_001407611.1:c.3601del NP_001394540.1:p.Tyr1201fs frameshift NM_001407612.1:c.3601del NP_001394541.1:p.Tyr1201fs frameshift NM_001407613.1:c.3601del NP_001394542.1:p.Tyr1201fs frameshift NM_001407614.1:c.3601del NP_001394543.1:p.Tyr1201fs frameshift NM_001407615.1:c.3601del NP_001394544.1:p.Tyr1201fs frameshift NM_001407616.1:c.3604del NP_001394545.1:p.Tyr1202fs frameshift NM_001407617.1:c.3604del NP_001394546.1:p.Tyr1202fs frameshift NM_001407618.1:c.3604del NP_001394547.1:p.Tyr1202fs frameshift NM_001407619.1:c.3604del NP_001394548.1:p.Tyr1202fs frameshift NM_001407620.1:c.3604del NP_001394549.1:p.Tyr1202fs frameshift NM_001407621.1:c.3604del NP_001394550.1:p.Tyr1202fs frameshift NM_001407622.1:c.3604del NP_001394551.1:p.Tyr1202fs frameshift NM_001407623.1:c.3604del NP_001394552.1:p.Tyr1202fs frameshift NM_001407624.1:c.3604del NP_001394553.1:p.Tyr1202fs frameshift NM_001407625.1:c.3604del NP_001394554.1:p.Tyr1202fs frameshift NM_001407626.1:c.3604del NP_001394555.1:p.Tyr1202fs frameshift NM_001407627.1:c.3601del NP_001394556.1:p.Tyr1201fs frameshift NM_001407628.1:c.3601del NP_001394557.1:p.Tyr1201fs frameshift NM_001407629.1:c.3601del NP_001394558.1:p.Tyr1201fs frameshift NM_001407630.1:c.3601del NP_001394559.1:p.Tyr1201fs frameshift NM_001407631.1:c.3601del NP_001394560.1:p.Tyr1201fs frameshift NM_001407632.1:c.3601del NP_001394561.1:p.Tyr1201fs frameshift NM_001407633.1:c.3601del NP_001394562.1:p.Tyr1201fs frameshift NM_001407634.1:c.3601del NP_001394563.1:p.Tyr1201fs frameshift NM_001407635.1:c.3601del NP_001394564.1:p.Tyr1201fs frameshift NM_001407636.1:c.3601del NP_001394565.1:p.Tyr1201fs frameshift NM_001407637.1:c.3601del NP_001394566.1:p.Tyr1201fs frameshift NM_001407638.1:c.3601del NP_001394567.1:p.Tyr1201fs frameshift NM_001407639.1:c.3604del NP_001394568.1:p.Tyr1202fs frameshift NM_001407640.1:c.3604del NP_001394569.1:p.Tyr1202fs frameshift NM_001407641.1:c.3604del NP_001394570.1:p.Tyr1202fs frameshift NM_001407642.1:c.3604del NP_001394571.1:p.Tyr1202fs frameshift NM_001407644.1:c.3601del NP_001394573.1:p.Tyr1201fs frameshift NM_001407645.1:c.3601del NP_001394574.1:p.Tyr1201fs frameshift NM_001407646.1:c.3595del NP_001394575.1:p.Tyr1199fs frameshift NM_001407647.1:c.3595del NP_001394576.1:p.Tyr1199fs frameshift NM_001407648.1:c.3481del NP_001394577.1:p.Tyr1161fs frameshift NM_001407649.1:c.3478del NP_001394578.1:p.Tyr1160fs frameshift NM_001407652.1:c.3604del NP_001394581.1:p.Tyr1202fs frameshift NM_001407653.1:c.3526del NP_001394582.1:p.Tyr1176fs frameshift NM_001407654.1:c.3526del NP_001394583.1:p.Tyr1176fs frameshift NM_001407655.1:c.3526del NP_001394584.1:p.Tyr1176fs frameshift NM_001407656.1:c.3526del NP_001394585.1:p.Tyr1176fs frameshift NM_001407657.1:c.3526del NP_001394586.1:p.Tyr1176fs frameshift NM_001407658.1:c.3526del NP_001394587.1:p.Tyr1176fs frameshift NM_001407659.1:c.3523del NP_001394588.1:p.Tyr1175fs frameshift NM_001407660.1:c.3523del NP_001394589.1:p.Tyr1175fs frameshift NM_001407661.1:c.3523del NP_001394590.1:p.Tyr1175fs frameshift NM_001407662.1:c.3523del NP_001394591.1:p.Tyr1175fs frameshift NM_001407663.1:c.3526del NP_001394592.1:p.Tyr1176fs frameshift NM_001407664.1:c.3481del NP_001394593.1:p.Tyr1161fs frameshift NM_001407665.1:c.3481del NP_001394594.1:p.Tyr1161fs frameshift NM_001407666.1:c.3481del NP_001394595.1:p.Tyr1161fs frameshift NM_001407667.1:c.3481del NP_001394596.1:p.Tyr1161fs frameshift NM_001407668.1:c.3481del NP_001394597.1:p.Tyr1161fs frameshift NM_001407669.1:c.3481del NP_001394598.1:p.Tyr1161fs frameshift NM_001407670.1:c.3478del NP_001394599.1:p.Tyr1160fs frameshift NM_001407671.1:c.3478del NP_001394600.1:p.Tyr1160fs frameshift NM_001407672.1:c.3478del NP_001394601.1:p.Tyr1160fs frameshift NM_001407673.1:c.3478del NP_001394602.1:p.Tyr1160fs frameshift NM_001407674.1:c.3481del NP_001394603.1:p.Tyr1161fs frameshift NM_001407675.1:c.3481del NP_001394604.1:p.Tyr1161fs frameshift NM_001407676.1:c.3481del NP_001394605.1:p.Tyr1161fs frameshift NM_001407677.1:c.3481del NP_001394606.1:p.Tyr1161fs frameshift NM_001407678.1:c.3481del NP_001394607.1:p.Tyr1161fs frameshift NM_001407679.1:c.3481del NP_001394608.1:p.Tyr1161fs frameshift NM_001407680.1:c.3481del NP_001394609.1:p.Tyr1161fs frameshift NM_001407681.1:c.3481del NP_001394610.1:p.Tyr1161fs frameshift NM_001407682.1:c.3481del NP_001394611.1:p.Tyr1161fs frameshift NM_001407683.1:c.3481del NP_001394612.1:p.Tyr1161fs frameshift NM_001407684.1:c.3604del NP_001394613.1:p.Tyr1202fs frameshift NM_001407685.1:c.3478del NP_001394614.1:p.Tyr1160fs frameshift NM_001407686.1:c.3478del NP_001394615.1:p.Tyr1160fs frameshift NM_001407687.1:c.3478del NP_001394616.1:p.Tyr1160fs frameshift NM_001407688.1:c.3478del NP_001394617.1:p.Tyr1160fs frameshift NM_001407689.1:c.3478del NP_001394618.1:p.Tyr1160fs frameshift NM_001407690.1:c.3478del NP_001394619.1:p.Tyr1160fs frameshift NM_001407691.1:c.3478del NP_001394620.1:p.Tyr1160fs frameshift NM_001407692.1:c.3463del NP_001394621.1:p.Tyr1155fs frameshift NM_001407694.1:c.3463del NP_001394623.1:p.Tyr1155fs frameshift NM_001407695.1:c.3463del NP_001394624.1:p.Tyr1155fs frameshift NM_001407696.1:c.3463del NP_001394625.1:p.Tyr1155fs frameshift NM_001407697.1:c.3463del NP_001394626.1:p.Tyr1155fs frameshift NM_001407698.1:c.3463del NP_001394627.1:p.Tyr1155fs frameshift NM_001407724.1:c.3463del NP_001394653.1:p.Tyr1155fs frameshift NM_001407725.1:c.3463del NP_001394654.1:p.Tyr1155fs frameshift NM_001407726.1:c.3463del NP_001394655.1:p.Tyr1155fs frameshift NM_001407727.1:c.3463del NP_001394656.1:p.Tyr1155fs frameshift NM_001407728.1:c.3463del NP_001394657.1:p.Tyr1155fs frameshift NM_001407729.1:c.3463del NP_001394658.1:p.Tyr1155fs frameshift NM_001407730.1:c.3463del NP_001394659.1:p.Tyr1155fs frameshift NM_001407731.1:c.3463del NP_001394660.1:p.Tyr1155fs frameshift NM_001407732.1:c.3463del NP_001394661.1:p.Tyr1155fs frameshift NM_001407733.1:c.3463del NP_001394662.1:p.Tyr1155fs frameshift NM_001407734.1:c.3463del NP_001394663.1:p.Tyr1155fs frameshift NM_001407735.1:c.3463del NP_001394664.1:p.Tyr1155fs frameshift NM_001407736.1:c.3463del NP_001394665.1:p.Tyr1155fs frameshift NM_001407737.1:c.3463del NP_001394666.1:p.Tyr1155fs frameshift NM_001407738.1:c.3463del NP_001394667.1:p.Tyr1155fs frameshift NM_001407739.1:c.3463del NP_001394668.1:p.Tyr1155fs frameshift NM_001407740.1:c.3460del NP_001394669.1:p.Tyr1154fs frameshift NM_001407741.1:c.3460del NP_001394670.1:p.Tyr1154fs frameshift NM_001407742.1:c.3460del NP_001394671.1:p.Tyr1154fs frameshift NM_001407743.1:c.3460del NP_001394672.1:p.Tyr1154fs frameshift NM_001407744.1:c.3460del NP_001394673.1:p.Tyr1154fs frameshift NM_001407745.1:c.3460del NP_001394674.1:p.Tyr1154fs frameshift NM_001407746.1:c.3460del NP_001394675.1:p.Tyr1154fs frameshift NM_001407747.1:c.3460del NP_001394676.1:p.Tyr1154fs frameshift NM_001407748.1:c.3460del NP_001394677.1:p.Tyr1154fs frameshift NM_001407749.1:c.3460del NP_001394678.1:p.Tyr1154fs frameshift NM_001407750.1:c.3463del NP_001394679.1:p.Tyr1155fs frameshift NM_001407751.1:c.3463del NP_001394680.1:p.Tyr1155fs frameshift NM_001407752.1:c.3463del NP_001394681.1:p.Tyr1155fs frameshift NM_001407838.1:c.3460del NP_001394767.1:p.Tyr1154fs frameshift NM_001407839.1:c.3460del NP_001394768.1:p.Tyr1154fs frameshift NM_001407841.1:c.3460del NP_001394770.1:p.Tyr1154fs frameshift NM_001407842.1:c.3460del NP_001394771.1:p.Tyr1154fs frameshift NM_001407843.1:c.3460del NP_001394772.1:p.Tyr1154fs frameshift NM_001407844.1:c.3460del NP_001394773.1:p.Tyr1154fs frameshift NM_001407845.1:c.3460del NP_001394774.1:p.Tyr1154fs frameshift NM_001407846.1:c.3460del NP_001394775.1:p.Tyr1154fs frameshift NM_001407847.1:c.3460del NP_001394776.1:p.Tyr1154fs frameshift NM_001407848.1:c.3460del NP_001394777.1:p.Tyr1154fs frameshift NM_001407849.1:c.3460del NP_001394778.1:p.Tyr1154fs frameshift NM_001407850.1:c.3463del NP_001394779.1:p.Tyr1155fs frameshift NM_001407851.1:c.3463del NP_001394780.1:p.Tyr1155fs frameshift NM_001407852.1:c.3463del NP_001394781.1:p.Tyr1155fs frameshift NM_001407853.1:c.3391del NP_001394782.1:p.Tyr1131fs frameshift NM_001407854.1:c.3604del NP_001394783.1:p.Tyr1202fs frameshift NM_001407858.1:c.3604del NP_001394787.1:p.Tyr1202fs frameshift NM_001407859.1:c.3604del NP_001394788.1:p.Tyr1202fs frameshift NM_001407860.1:c.3601del NP_001394789.1:p.Tyr1201fs frameshift NM_001407861.1:c.3601del NP_001394790.1:p.Tyr1201fs frameshift NM_001407862.1:c.3403del NP_001394791.1:p.Tyr1135fs frameshift NM_001407863.1:c.3481del NP_001394792.1:p.Tyr1161fs frameshift NM_001407874.1:c.3400del NP_001394803.1:p.Tyr1134fs frameshift NM_001407875.1:c.3400del NP_001394804.1:p.Tyr1134fs frameshift NM_001407879.1:c.3394del NP_001394808.1:p.Tyr1132fs frameshift NM_001407881.1:c.3394del NP_001394810.1:p.Tyr1132fs frameshift NM_001407882.1:c.3394del NP_001394811.1:p.Tyr1132fs frameshift NM_001407884.1:c.3394del NP_001394813.1:p.Tyr1132fs frameshift NM_001407885.1:c.3394del NP_001394814.1:p.Tyr1132fs frameshift NM_001407886.1:c.3394del NP_001394815.1:p.Tyr1132fs frameshift NM_001407887.1:c.3394del NP_001394816.1:p.Tyr1132fs frameshift NM_001407889.1:c.3394del NP_001394818.1:p.Tyr1132fs frameshift NM_001407894.1:c.3391del NP_001394823.1:p.Tyr1131fs frameshift NM_001407895.1:c.3391del NP_001394824.1:p.Tyr1131fs frameshift NM_001407896.1:c.3391del NP_001394825.1:p.Tyr1131fs frameshift NM_001407897.1:c.3391del NP_001394826.1:p.Tyr1131fs frameshift NM_001407898.1:c.3391del NP_001394827.1:p.Tyr1131fs frameshift NM_001407899.1:c.3391del NP_001394828.1:p.Tyr1131fs frameshift NM_001407900.1:c.3394del NP_001394829.1:p.Tyr1132fs frameshift NM_001407902.1:c.3394del NP_001394831.1:p.Tyr1132fs frameshift NM_001407904.1:c.3394del NP_001394833.1:p.Tyr1132fs frameshift NM_001407906.1:c.3394del NP_001394835.1:p.Tyr1132fs frameshift NM_001407907.1:c.3394del NP_001394836.1:p.Tyr1132fs frameshift NM_001407908.1:c.3394del NP_001394837.1:p.Tyr1132fs frameshift NM_001407909.1:c.3394del NP_001394838.1:p.Tyr1132fs frameshift NM_001407910.1:c.3394del NP_001394839.1:p.Tyr1132fs frameshift NM_001407915.1:c.3391del NP_001394844.1:p.Tyr1131fs frameshift NM_001407916.1:c.3391del NP_001394845.1:p.Tyr1131fs frameshift NM_001407917.1:c.3391del NP_001394846.1:p.Tyr1131fs frameshift NM_001407918.1:c.3391del NP_001394847.1:p.Tyr1131fs frameshift NM_001407919.1:c.3481del NP_001394848.1:p.Tyr1161fs frameshift NM_001407920.1:c.3340del NP_001394849.1:p.Tyr1114fs frameshift NM_001407921.1:c.3340del NP_001394850.1:p.Tyr1114fs frameshift NM_001407922.1:c.3340del NP_001394851.1:p.Tyr1114fs frameshift NM_001407923.1:c.3340del NP_001394852.1:p.Tyr1114fs frameshift NM_001407924.1:c.3340del NP_001394853.1:p.Tyr1114fs frameshift NM_001407925.1:c.3340del NP_001394854.1:p.Tyr1114fs frameshift NM_001407926.1:c.3340del NP_001394855.1:p.Tyr1114fs frameshift NM_001407927.1:c.3340del NP_001394856.1:p.Tyr1114fs frameshift NM_001407928.1:c.3340del NP_001394857.1:p.Tyr1114fs frameshift NM_001407929.1:c.3340del NP_001394858.1:p.Tyr1114fs frameshift NM_001407930.1:c.3337del NP_001394859.1:p.Tyr1113fs frameshift NM_001407931.1:c.3337del NP_001394860.1:p.Tyr1113fs frameshift NM_001407932.1:c.3337del NP_001394861.1:p.Tyr1113fs frameshift NM_001407933.1:c.3340del NP_001394862.1:p.Tyr1114fs frameshift NM_001407934.1:c.3337del NP_001394863.1:p.Tyr1113fs frameshift NM_001407935.1:c.3340del NP_001394864.1:p.Tyr1114fs frameshift NM_001407936.1:c.3337del NP_001394865.1:p.Tyr1113fs frameshift NM_001407937.1:c.3481del NP_001394866.1:p.Tyr1161fs frameshift NM_001407938.1:c.3481del NP_001394867.1:p.Tyr1161fs frameshift NM_001407939.1:c.3481del NP_001394868.1:p.Tyr1161fs frameshift NM_001407940.1:c.3478del NP_001394869.1:p.Tyr1160fs frameshift NM_001407941.1:c.3478del NP_001394870.1:p.Tyr1160fs frameshift NM_001407942.1:c.3463del NP_001394871.1:p.Tyr1155fs frameshift NM_001407943.1:c.3460del NP_001394872.1:p.Tyr1154fs frameshift NM_001407944.1:c.3463del NP_001394873.1:p.Tyr1155fs frameshift NM_001407945.1:c.3463del NP_001394874.1:p.Tyr1155fs frameshift NM_001407946.1:c.3271del NP_001394875.1:p.Tyr1091fs frameshift NM_001407947.1:c.3271del NP_001394876.1:p.Tyr1091fs frameshift NM_001407948.1:c.3271del NP_001394877.1:p.Tyr1091fs frameshift NM_001407949.1:c.3271del NP_001394878.1:p.Tyr1091fs frameshift NM_001407950.1:c.3271del NP_001394879.1:p.Tyr1091fs frameshift NM_001407951.1:c.3271del NP_001394880.1:p.Tyr1091fs frameshift NM_001407952.1:c.3271del NP_001394881.1:p.Tyr1091fs frameshift NM_001407953.1:c.3271del NP_001394882.1:p.Tyr1091fs frameshift NM_001407954.1:c.3268del NP_001394883.1:p.Tyr1090fs frameshift NM_001407955.1:c.3268del NP_001394884.1:p.Tyr1090fs frameshift NM_001407956.1:c.3268del NP_001394885.1:p.Tyr1090fs frameshift NM_001407957.1:c.3271del NP_001394886.1:p.Tyr1091fs frameshift NM_001407958.1:c.3268del NP_001394887.1:p.Tyr1090fs frameshift NM_001407959.1:c.3223del NP_001394888.1:p.Tyr1075fs frameshift NM_001407960.1:c.3223del NP_001394889.1:p.Tyr1075fs frameshift NM_001407962.1:c.3220del NP_001394891.1:p.Tyr1074fs frameshift NM_001407963.1:c.3223del NP_001394892.1:p.Tyr1075fs frameshift NM_001407964.1:c.3460del NP_001394893.1:p.Tyr1154fs frameshift NM_001407965.1:c.3100del NP_001394894.1:p.Tyr1034fs frameshift NM_001407966.1:c.2716del NP_001394895.1:p.Tyr906fs frameshift NM_001407967.1:c.2716del NP_001394896.1:p.Tyr906fs frameshift NM_001407968.1:c.1000del NP_001394897.1:p.Tyr334fs frameshift NM_001407969.1:c.1000del NP_001394898.1:p.Tyr334fs frameshift NM_001407970.1:c.788-895del intron variant NM_001407971.1:c.788-895del intron variant NM_001407972.1:c.785-895del intron variant NM_001407973.1:c.788-895del intron variant NM_001407974.1:c.788-895del intron variant NM_001407975.1:c.788-895del intron variant NM_001407976.1:c.788-895del intron variant NM_001407977.1:c.788-895del intron variant NM_001407978.1:c.788-895del intron variant NM_001407979.1:c.788-895del intron variant NM_001407980.1:c.788-895del intron variant NM_001407981.1:c.788-895del intron variant NM_001407982.1:c.788-895del intron variant NM_001407983.1:c.788-895del intron variant NM_001407984.1:c.785-895del intron variant NM_001407985.1:c.785-895del intron variant NM_001407986.1:c.785-895del intron variant NM_001407990.1:c.788-895del intron variant NM_001407991.1:c.785-895del intron variant NM_001407992.1:c.785-895del intron variant NM_001407993.1:c.788-895del intron variant NM_001408392.1:c.785-895del intron variant NM_001408396.1:c.785-895del intron variant NM_001408397.1:c.785-895del intron variant NM_001408398.1:c.785-895del intron variant NM_001408399.1:c.785-895del intron variant NM_001408400.1:c.785-895del intron variant NM_001408401.1:c.785-895del intron variant NM_001408402.1:c.785-895del intron variant NM_001408403.1:c.788-895del intron variant NM_001408404.1:c.788-895del intron variant NM_001408406.1:c.791-904del intron variant NM_001408407.1:c.785-895del intron variant NM_001408408.1:c.779-895del intron variant NM_001408409.1:c.710-895del intron variant NM_001408410.1:c.647-895del intron variant NM_001408411.1:c.710-895del intron variant NM_001408412.1:c.710-895del intron variant NM_001408413.1:c.707-895del intron variant NM_001408414.1:c.710-895del intron variant NM_001408415.1:c.710-895del intron variant NM_001408416.1:c.707-895del intron variant NM_001408418.1:c.671-895del intron variant NM_001408419.1:c.671-895del intron variant NM_001408420.1:c.671-895del intron variant NM_001408421.1:c.668-895del intron variant NM_001408422.1:c.671-895del intron variant NM_001408423.1:c.671-895del intron variant NM_001408424.1:c.668-895del intron variant NM_001408425.1:c.665-895del intron variant NM_001408426.1:c.665-895del intron variant NM_001408427.1:c.665-895del intron variant NM_001408428.1:c.665-895del intron variant NM_001408429.1:c.665-895del intron variant NM_001408430.1:c.665-895del intron variant NM_001408431.1:c.668-895del intron variant NM_001408432.1:c.662-895del intron variant NM_001408433.1:c.662-895del intron variant NM_001408434.1:c.662-895del intron variant NM_001408435.1:c.662-895del intron variant NM_001408436.1:c.665-895del intron variant NM_001408437.1:c.665-895del intron variant NM_001408438.1:c.665-895del intron variant NM_001408439.1:c.665-895del intron variant NM_001408440.1:c.665-895del intron variant NM_001408441.1:c.665-895del intron variant NM_001408442.1:c.665-895del intron variant NM_001408443.1:c.665-895del intron variant NM_001408444.1:c.665-895del intron variant NM_001408445.1:c.662-895del intron variant NM_001408446.1:c.662-895del intron variant NM_001408447.1:c.662-895del intron variant NM_001408448.1:c.662-895del intron variant NM_001408450.1:c.662-895del intron variant NM_001408451.1:c.653-895del intron variant NM_001408452.1:c.647-895del intron variant NM_001408453.1:c.647-895del intron variant NM_001408454.1:c.647-895del intron variant NM_001408455.1:c.647-895del intron variant NM_001408456.1:c.647-895del intron variant NM_001408457.1:c.647-895del intron variant NM_001408458.1:c.647-895del intron variant NM_001408459.1:c.647-895del intron variant NM_001408460.1:c.647-895del intron variant NM_001408461.1:c.647-895del intron variant NM_001408462.1:c.644-895del intron variant NM_001408463.1:c.644-895del intron variant NM_001408464.1:c.644-895del intron variant NM_001408465.1:c.644-895del intron variant NM_001408466.1:c.647-895del intron variant NM_001408467.1:c.647-895del intron variant NM_001408468.1:c.644-895del intron variant NM_001408469.1:c.647-895del intron variant NM_001408470.1:c.644-895del intron variant NM_001408472.1:c.788-895del intron variant NM_001408473.1:c.785-895del intron variant NM_001408474.1:c.587-895del intron variant NM_001408475.1:c.584-895del intron variant NM_001408476.1:c.587-895del intron variant NM_001408478.1:c.578-895del intron variant NM_001408479.1:c.578-895del intron variant NM_001408480.1:c.578-895del intron variant NM_001408481.1:c.578-895del intron variant NM_001408482.1:c.578-895del intron variant NM_001408483.1:c.578-895del intron variant NM_001408484.1:c.578-895del intron variant NM_001408485.1:c.578-895del intron variant NM_001408489.1:c.578-895del intron variant NM_001408490.1:c.575-895del intron variant NM_001408491.1:c.575-895del intron variant NM_001408492.1:c.578-895del intron variant NM_001408493.1:c.575-895del intron variant NM_001408494.1:c.548-895del intron variant NM_001408495.1:c.545-895del intron variant NM_001408496.1:c.524-895del intron variant NM_001408497.1:c.524-895del intron variant NM_001408498.1:c.524-895del intron variant NM_001408499.1:c.524-895del intron variant NM_001408500.1:c.524-895del intron variant NM_001408501.1:c.524-895del intron variant NM_001408502.1:c.455-895del intron variant NM_001408503.1:c.521-895del intron variant NM_001408504.1:c.521-895del intron variant NM_001408505.1:c.521-895del intron variant NM_001408506.1:c.461-895del intron variant NM_001408507.1:c.461-895del intron variant NM_001408508.1:c.452-895del intron variant NM_001408509.1:c.452-895del intron variant NM_001408510.1:c.407-895del intron variant NM_001408511.1:c.404-895del intron variant NM_001408512.1:c.284-895del intron variant NM_001408513.1:c.578-895del intron variant NM_001408514.1:c.578-895del intron variant NM_007294.3:c.3603delT NP_009225.1:p.Tyr1202Thrfs frameshift NM_007297.4:c.3463del NP_009228.2:p.Tyr1155fs frameshift NM_007298.4:c.788-895del intron variant NM_007299.4:c.788-895del intron variant NM_007300.4:c.3604del NP_009231.2:p.Tyr1202fs frameshift NR_027676.1:n.3739delT NC_000017.11:g.43091928del NC_000017.10:g.41243945del NG_005905.2:g.126057del NG_087068.1:g.910del LRG_292:g.126057del LRG_292t1:c.3604del LRG_292p1:p.Tyr1202fs - Protein change
- Y1155fs, Y1202fs, Y1034fs, Y1132fs, Y1135fs, Y1175fs, Y1074fs, Y1075fs, Y1091fs, Y1113fs, Y1131fs, Y1134fs, Y1161fs, Y1201fs, Y1090fs, Y1114fs, Y1154fs, Y1160fs, Y1176fs, Y1199fs, Y334fs, Y906fs
- Other names
- 3723delT(stop1209)
- Canonical SPDI
- NC_000017.11:43091926:AA: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.
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12795 | 14565 | |
LOC126862571 | - | - | - | GRCh38 | - | 1622 |
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 (3) |
reviewed by expert panel
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Oct 18, 2016 | RCV000256783.7 | |
Pathogenic (1) |
criteria provided, single submitter
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Nov 6, 2018 | RCV001270002.3 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Oct 18, 2016)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000323638.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
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Pathogenic
(Nov 06, 2018)
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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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Clinical Genetics and Genomics, Karolinska University Hospital
Accession: SCV001450413.1
First in ClinVar: Dec 11, 2020 Last updated: Dec 11, 2020 |
Number of individuals with the variant: 1
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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: SCV000325697.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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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: SCV004244038.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
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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
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs886040150 ...
HelpRecord last updated Mar 30, 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.