ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3693dup (p.Gly1232fs)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.3693dup (p.Gly1232fs)
Variation ID: 54962 Accession: VCV000054962.7
- Type and length
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Duplication, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43091837-43091838 (GRCh38) [ NCBI UCSC ] 17: 41243854-41243855 (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 7, 2023 Oct 18, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.3693dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gly1232fs frameshift NM_001407571.1:c.3480dup NP_001394500.1:p.Gly1161fs frameshift NM_001407581.1:c.3693dup NP_001394510.1:p.Gly1232fs frameshift NM_001407582.1:c.3693dup NP_001394511.1:p.Gly1232fs frameshift NM_001407583.1:c.3693dup NP_001394512.1:p.Gly1232fs frameshift NM_001407585.1:c.3693dup NP_001394514.1:p.Gly1232fs frameshift NM_001407587.1:c.3690dup NP_001394516.1:p.Gly1231fs frameshift NM_001407590.1:c.3690dup NP_001394519.1:p.Gly1231fs frameshift NM_001407591.1:c.3690dup NP_001394520.1:p.Gly1231fs frameshift NM_001407593.1:c.3693dup NP_001394522.1:p.Gly1232fs frameshift NM_001407594.1:c.3693dup NP_001394523.1:p.Gly1232fs frameshift NM_001407596.1:c.3693dup NP_001394525.1:p.Gly1232fs frameshift NM_001407597.1:c.3693dup NP_001394526.1:p.Gly1232fs frameshift NM_001407598.1:c.3693dup NP_001394527.1:p.Gly1232fs frameshift NM_001407602.1:c.3693dup NP_001394531.1:p.Gly1232fs frameshift NM_001407603.1:c.3693dup NP_001394532.1:p.Gly1232fs frameshift NM_001407605.1:c.3693dup NP_001394534.1:p.Gly1232fs frameshift NM_001407610.1:c.3690dup NP_001394539.1:p.Gly1231fs frameshift NM_001407611.1:c.3690dup NP_001394540.1:p.Gly1231fs frameshift NM_001407612.1:c.3690dup NP_001394541.1:p.Gly1231fs frameshift NM_001407613.1:c.3690dup NP_001394542.1:p.Gly1231fs frameshift NM_001407614.1:c.3690dup NP_001394543.1:p.Gly1231fs frameshift NM_001407615.1:c.3690dup NP_001394544.1:p.Gly1231fs frameshift NM_001407616.1:c.3693dup NP_001394545.1:p.Gly1232fs frameshift NM_001407617.1:c.3693dup NP_001394546.1:p.Gly1232fs frameshift NM_001407618.1:c.3693dup NP_001394547.1:p.Gly1232fs frameshift NM_001407619.1:c.3693dup NP_001394548.1:p.Gly1232fs frameshift NM_001407620.1:c.3693dup NP_001394549.1:p.Gly1232fs frameshift NM_001407621.1:c.3693dup NP_001394550.1:p.Gly1232fs frameshift NM_001407622.1:c.3693dup NP_001394551.1:p.Gly1232fs frameshift NM_001407623.1:c.3693dup NP_001394552.1:p.Gly1232fs frameshift NM_001407624.1:c.3693dup NP_001394553.1:p.Gly1232fs frameshift NM_001407625.1:c.3693dup NP_001394554.1:p.Gly1232fs frameshift NM_001407626.1:c.3693dup NP_001394555.1:p.Gly1232fs frameshift NM_001407627.1:c.3690dup NP_001394556.1:p.Gly1231fs frameshift NM_001407628.1:c.3690dup NP_001394557.1:p.Gly1231fs frameshift NM_001407629.1:c.3690dup NP_001394558.1:p.Gly1231fs frameshift NM_001407630.1:c.3690dup NP_001394559.1:p.Gly1231fs frameshift NM_001407631.1:c.3690dup NP_001394560.1:p.Gly1231fs frameshift NM_001407632.1:c.3690dup NP_001394561.1:p.Gly1231fs frameshift NM_001407633.1:c.3690dup NP_001394562.1:p.Gly1231fs frameshift NM_001407634.1:c.3690dup NP_001394563.1:p.Gly1231fs frameshift NM_001407635.1:c.3690dup NP_001394564.1:p.Gly1231fs frameshift NM_001407636.1:c.3690dup NP_001394565.1:p.Gly1231fs frameshift NM_001407637.1:c.3690dup NP_001394566.1:p.Gly1231fs frameshift NM_001407638.1:c.3690dup NP_001394567.1:p.Gly1231fs frameshift NM_001407639.1:c.3693dup NP_001394568.1:p.Gly1232fs frameshift NM_001407640.1:c.3693dup NP_001394569.1:p.Gly1232fs frameshift NM_001407641.1:c.3693dup NP_001394570.1:p.Gly1232fs frameshift NM_001407642.1:c.3693dup NP_001394571.1:p.Gly1232fs frameshift NM_001407644.1:c.3690dup NP_001394573.1:p.Gly1231fs frameshift NM_001407645.1:c.3690dup NP_001394574.1:p.Gly1231fs frameshift NM_001407646.1:c.3684dup NP_001394575.1:p.Gly1229fs frameshift NM_001407647.1:c.3684dup NP_001394576.1:p.Gly1229fs frameshift NM_001407648.1:c.3570dup NP_001394577.1:p.Gly1191fs frameshift NM_001407649.1:c.3567dup NP_001394578.1:p.Gly1190fs frameshift NM_001407652.1:c.3693dup NP_001394581.1:p.Gly1232fs frameshift NM_001407653.1:c.3615dup NP_001394582.1:p.Gly1206fs frameshift NM_001407654.1:c.3615dup NP_001394583.1:p.Gly1206fs frameshift NM_001407655.1:c.3615dup NP_001394584.1:p.Gly1206fs frameshift NM_001407656.1:c.3615dup NP_001394585.1:p.Gly1206fs frameshift NM_001407657.1:c.3615dup NP_001394586.1:p.Gly1206fs frameshift NM_001407658.1:c.3615dup NP_001394587.1:p.Gly1206fs frameshift NM_001407659.1:c.3612dup NP_001394588.1:p.Gly1205fs frameshift NM_001407660.1:c.3612dup NP_001394589.1:p.Gly1205fs frameshift NM_001407661.1:c.3612dup NP_001394590.1:p.Gly1205fs frameshift NM_001407662.1:c.3612dup NP_001394591.1:p.Gly1205fs frameshift NM_001407663.1:c.3615dup NP_001394592.1:p.Gly1206fs frameshift NM_001407664.1:c.3570dup NP_001394593.1:p.Gly1191fs frameshift NM_001407665.1:c.3570dup NP_001394594.1:p.Gly1191fs frameshift NM_001407666.1:c.3570dup NP_001394595.1:p.Gly1191fs frameshift NM_001407667.1:c.3570dup NP_001394596.1:p.Gly1191fs frameshift NM_001407668.1:c.3570dup NP_001394597.1:p.Gly1191fs frameshift NM_001407669.1:c.3570dup NP_001394598.1:p.Gly1191fs frameshift NM_001407670.1:c.3567dup NP_001394599.1:p.Gly1190fs frameshift NM_001407671.1:c.3567dup NP_001394600.1:p.Gly1190fs frameshift NM_001407672.1:c.3567dup NP_001394601.1:p.Gly1190fs frameshift NM_001407673.1:c.3567dup NP_001394602.1:p.Gly1190fs frameshift NM_001407674.1:c.3570dup NP_001394603.1:p.Gly1191fs frameshift NM_001407675.1:c.3570dup NP_001394604.1:p.Gly1191fs frameshift NM_001407676.1:c.3570dup NP_001394605.1:p.Gly1191fs frameshift NM_001407677.1:c.3570dup NP_001394606.1:p.Gly1191fs frameshift NM_001407678.1:c.3570dup NP_001394607.1:p.Gly1191fs frameshift NM_001407679.1:c.3570dup NP_001394608.1:p.Gly1191fs frameshift NM_001407680.1:c.3570dup NP_001394609.1:p.Gly1191fs frameshift NM_001407681.1:c.3570dup NP_001394610.1:p.Gly1191fs frameshift NM_001407682.1:c.3570dup NP_001394611.1:p.Gly1191fs frameshift NM_001407683.1:c.3570dup NP_001394612.1:p.Gly1191fs frameshift NM_001407684.1:c.3693dup NP_001394613.1:p.Gly1232fs frameshift NM_001407685.1:c.3567dup NP_001394614.1:p.Gly1190fs frameshift NM_001407686.1:c.3567dup NP_001394615.1:p.Gly1190fs frameshift NM_001407687.1:c.3567dup NP_001394616.1:p.Gly1190fs frameshift NM_001407688.1:c.3567dup NP_001394617.1:p.Gly1190fs frameshift NM_001407689.1:c.3567dup NP_001394618.1:p.Gly1190fs frameshift NM_001407690.1:c.3567dup NP_001394619.1:p.Gly1190fs frameshift NM_001407691.1:c.3567dup NP_001394620.1:p.Gly1190fs frameshift NM_001407692.1:c.3552dup NP_001394621.1:p.Gly1185fs frameshift NM_001407694.1:c.3552dup NP_001394623.1:p.Gly1185fs frameshift NM_001407695.1:c.3552dup NP_001394624.1:p.Gly1185fs frameshift NM_001407696.1:c.3552dup NP_001394625.1:p.Gly1185fs frameshift NM_001407697.1:c.3552dup NP_001394626.1:p.Gly1185fs frameshift NM_001407698.1:c.3552dup NP_001394627.1:p.Gly1185fs frameshift NM_001407724.1:c.3552dup NP_001394653.1:p.Gly1185fs frameshift NM_001407725.1:c.3552dup NP_001394654.1:p.Gly1185fs frameshift NM_001407726.1:c.3552dup NP_001394655.1:p.Gly1185fs frameshift NM_001407727.1:c.3552dup NP_001394656.1:p.Gly1185fs frameshift NM_001407728.1:c.3552dup NP_001394657.1:p.Gly1185fs frameshift NM_001407729.1:c.3552dup NP_001394658.1:p.Gly1185fs frameshift NM_001407730.1:c.3552dup NP_001394659.1:p.Gly1185fs frameshift NM_001407731.1:c.3552dup NP_001394660.1:p.Gly1185fs frameshift NM_001407732.1:c.3552dup NP_001394661.1:p.Gly1185fs frameshift NM_001407733.1:c.3552dup NP_001394662.1:p.Gly1185fs frameshift NM_001407734.1:c.3552dup NP_001394663.1:p.Gly1185fs frameshift NM_001407735.1:c.3552dup NP_001394664.1:p.Gly1185fs frameshift NM_001407736.1:c.3552dup NP_001394665.1:p.Gly1185fs frameshift NM_001407737.1:c.3552dup NP_001394666.1:p.Gly1185fs frameshift NM_001407738.1:c.3552dup NP_001394667.1:p.Gly1185fs frameshift NM_001407739.1:c.3552dup NP_001394668.1:p.Gly1185fs frameshift NM_001407740.1:c.3549dup NP_001394669.1:p.Gly1184fs frameshift NM_001407741.1:c.3549dup NP_001394670.1:p.Gly1184fs frameshift NM_001407742.1:c.3549dup NP_001394671.1:p.Gly1184fs frameshift NM_001407743.1:c.3549dup NP_001394672.1:p.Gly1184fs frameshift NM_001407744.1:c.3549dup NP_001394673.1:p.Gly1184fs frameshift NM_001407745.1:c.3549dup NP_001394674.1:p.Gly1184fs frameshift NM_001407746.1:c.3549dup NP_001394675.1:p.Gly1184fs frameshift NM_001407747.1:c.3549dup NP_001394676.1:p.Gly1184fs frameshift NM_001407748.1:c.3549dup NP_001394677.1:p.Gly1184fs frameshift NM_001407749.1:c.3549dup NP_001394678.1:p.Gly1184fs frameshift NM_001407750.1:c.3552dup NP_001394679.1:p.Gly1185fs frameshift NM_001407751.1:c.3552dup NP_001394680.1:p.Gly1185fs frameshift NM_001407752.1:c.3552dup NP_001394681.1:p.Gly1185fs frameshift NM_001407838.1:c.3549dup NP_001394767.1:p.Gly1184fs frameshift NM_001407839.1:c.3549dup NP_001394768.1:p.Gly1184fs frameshift NM_001407841.1:c.3549dup NP_001394770.1:p.Gly1184fs frameshift NM_001407842.1:c.3549dup NP_001394771.1:p.Gly1184fs frameshift NM_001407843.1:c.3549dup NP_001394772.1:p.Gly1184fs frameshift NM_001407844.1:c.3549dup NP_001394773.1:p.Gly1184fs frameshift NM_001407845.1:c.3549dup NP_001394774.1:p.Gly1184fs frameshift NM_001407846.1:c.3549dup NP_001394775.1:p.Gly1184fs frameshift NM_001407847.1:c.3549dup NP_001394776.1:p.Gly1184fs frameshift NM_001407848.1:c.3549dup NP_001394777.1:p.Gly1184fs frameshift NM_001407849.1:c.3549dup NP_001394778.1:p.Gly1184fs frameshift NM_001407850.1:c.3552dup NP_001394779.1:p.Gly1185fs frameshift NM_001407851.1:c.3552dup NP_001394780.1:p.Gly1185fs frameshift NM_001407852.1:c.3552dup NP_001394781.1:p.Gly1185fs frameshift NM_001407853.1:c.3480dup NP_001394782.1:p.Gly1161fs frameshift NM_001407854.1:c.3693dup NP_001394783.1:p.Gly1232fs frameshift NM_001407858.1:c.3693dup NP_001394787.1:p.Gly1232fs frameshift NM_001407859.1:c.3693dup NP_001394788.1:p.Gly1232fs frameshift NM_001407860.1:c.3690dup NP_001394789.1:p.Gly1231fs frameshift NM_001407861.1:c.3690dup NP_001394790.1:p.Gly1231fs frameshift NM_001407862.1:c.3492dup NP_001394791.1:p.Gly1165fs frameshift NM_001407863.1:c.3570dup NP_001394792.1:p.Gly1191fs frameshift NM_001407874.1:c.3489dup NP_001394803.1:p.Gly1164fs frameshift NM_001407875.1:c.3489dup NP_001394804.1:p.Gly1164fs frameshift NM_001407879.1:c.3483dup NP_001394808.1:p.Gly1162fs frameshift NM_001407881.1:c.3483dup NP_001394810.1:p.Gly1162fs frameshift NM_001407882.1:c.3483dup NP_001394811.1:p.Gly1162fs frameshift NM_001407884.1:c.3483dup NP_001394813.1:p.Gly1162fs frameshift NM_001407885.1:c.3483dup NP_001394814.1:p.Gly1162fs frameshift NM_001407886.1:c.3483dup NP_001394815.1:p.Gly1162fs frameshift NM_001407887.1:c.3483dup NP_001394816.1:p.Gly1162fs frameshift NM_001407889.1:c.3483dup NP_001394818.1:p.Gly1162fs frameshift NM_001407894.1:c.3480dup NP_001394823.1:p.Gly1161fs frameshift NM_001407895.1:c.3480dup NP_001394824.1:p.Gly1161fs frameshift NM_001407896.1:c.3480dup NP_001394825.1:p.Gly1161fs frameshift NM_001407897.1:c.3480dup NP_001394826.1:p.Gly1161fs frameshift NM_001407898.1:c.3480dup NP_001394827.1:p.Gly1161fs frameshift NM_001407899.1:c.3480dup NP_001394828.1:p.Gly1161fs frameshift NM_001407900.1:c.3483dup NP_001394829.1:p.Gly1162fs frameshift NM_001407902.1:c.3483dup NP_001394831.1:p.Gly1162fs frameshift NM_001407904.1:c.3483dup NP_001394833.1:p.Gly1162fs frameshift NM_001407906.1:c.3483dup NP_001394835.1:p.Gly1162fs frameshift NM_001407907.1:c.3483dup NP_001394836.1:p.Gly1162fs frameshift NM_001407908.1:c.3483dup NP_001394837.1:p.Gly1162fs frameshift NM_001407909.1:c.3483dup NP_001394838.1:p.Gly1162fs frameshift NM_001407910.1:c.3483dup NP_001394839.1:p.Gly1162fs frameshift NM_001407915.1:c.3480dup NP_001394844.1:p.Gly1161fs frameshift NM_001407916.1:c.3480dup NP_001394845.1:p.Gly1161fs frameshift NM_001407917.1:c.3480dup NP_001394846.1:p.Gly1161fs frameshift NM_001407918.1:c.3480dup NP_001394847.1:p.Gly1161fs frameshift NM_001407919.1:c.3570dup NP_001394848.1:p.Gly1191fs frameshift NM_001407920.1:c.3429dup NP_001394849.1:p.Gly1144fs frameshift NM_001407921.1:c.3429dup NP_001394850.1:p.Gly1144fs frameshift NM_001407922.1:c.3429dup NP_001394851.1:p.Gly1144fs frameshift NM_001407923.1:c.3429dup NP_001394852.1:p.Gly1144fs frameshift NM_001407924.1:c.3429dup NP_001394853.1:p.Gly1144fs frameshift NM_001407925.1:c.3429dup NP_001394854.1:p.Gly1144fs frameshift NM_001407926.1:c.3429dup NP_001394855.1:p.Gly1144fs frameshift NM_001407927.1:c.3429dup NP_001394856.1:p.Gly1144fs frameshift NM_001407928.1:c.3429dup NP_001394857.1:p.Gly1144fs frameshift NM_001407929.1:c.3429dup NP_001394858.1:p.Gly1144fs frameshift NM_001407930.1:c.3426dup NP_001394859.1:p.Gly1143fs frameshift NM_001407931.1:c.3426dup NP_001394860.1:p.Gly1143fs frameshift NM_001407932.1:c.3426dup NP_001394861.1:p.Gly1143fs frameshift NM_001407933.1:c.3429dup NP_001394862.1:p.Gly1144fs frameshift NM_001407934.1:c.3426dup NP_001394863.1:p.Gly1143fs frameshift NM_001407935.1:c.3429dup NP_001394864.1:p.Gly1144fs frameshift NM_001407936.1:c.3426dup NP_001394865.1:p.Gly1143fs frameshift NM_001407937.1:c.3570dup NP_001394866.1:p.Gly1191fs frameshift NM_001407938.1:c.3570dup NP_001394867.1:p.Gly1191fs frameshift NM_001407939.1:c.3570dup NP_001394868.1:p.Gly1191fs frameshift NM_001407940.1:c.3567dup NP_001394869.1:p.Gly1190fs frameshift NM_001407941.1:c.3567dup NP_001394870.1:p.Gly1190fs frameshift NM_001407942.1:c.3552dup NP_001394871.1:p.Gly1185fs frameshift NM_001407943.1:c.3549dup NP_001394872.1:p.Gly1184fs frameshift NM_001407944.1:c.3552dup NP_001394873.1:p.Gly1185fs frameshift NM_001407945.1:c.3552dup NP_001394874.1:p.Gly1185fs frameshift NM_001407946.1:c.3360dup NP_001394875.1:p.Gly1121fs frameshift NM_001407947.1:c.3360dup NP_001394876.1:p.Gly1121fs frameshift NM_001407948.1:c.3360dup NP_001394877.1:p.Gly1121fs frameshift NM_001407949.1:c.3360dup NP_001394878.1:p.Gly1121fs frameshift NM_001407950.1:c.3360dup NP_001394879.1:p.Gly1121fs frameshift NM_001407951.1:c.3360dup NP_001394880.1:p.Gly1121fs frameshift NM_001407952.1:c.3360dup NP_001394881.1:p.Gly1121fs frameshift NM_001407953.1:c.3360dup NP_001394882.1:p.Gly1121fs frameshift NM_001407954.1:c.3357dup NP_001394883.1:p.Gly1120fs frameshift NM_001407955.1:c.3357dup NP_001394884.1:p.Gly1120fs frameshift NM_001407956.1:c.3357dup NP_001394885.1:p.Gly1120fs frameshift NM_001407957.1:c.3360dup NP_001394886.1:p.Gly1121fs frameshift NM_001407958.1:c.3357dup NP_001394887.1:p.Gly1120fs frameshift NM_001407959.1:c.3312dup NP_001394888.1:p.Gly1105fs frameshift NM_001407960.1:c.3312dup NP_001394889.1:p.Gly1105fs frameshift NM_001407962.1:c.3309dup NP_001394891.1:p.Gly1104fs frameshift NM_001407963.1:c.3312dup NP_001394892.1:p.Gly1105fs frameshift NM_001407964.1:c.3549dup NP_001394893.1:p.Gly1184fs frameshift NM_001407965.1:c.3189dup NP_001394894.1:p.Gly1064fs frameshift NM_001407966.1:c.2805dup NP_001394895.1:p.Gly936fs frameshift NM_001407967.1:c.2805dup NP_001394896.1:p.Gly936fs frameshift NM_001407968.1:c.1089dup NP_001394897.1:p.Gly364fs frameshift NM_001407969.1:c.1089dup NP_001394898.1:p.Gly364fs frameshift NM_001407970.1:c.788-806dup intron variant NM_001407971.1:c.788-806dup intron variant NM_001407972.1:c.785-806dup intron variant NM_001407973.1:c.788-806dup intron variant NM_001407974.1:c.788-806dup intron variant NM_001407975.1:c.788-806dup intron variant NM_001407976.1:c.788-806dup intron variant NM_001407977.1:c.788-806dup intron variant NM_001407978.1:c.788-806dup intron variant NM_001407979.1:c.788-806dup intron variant NM_001407980.1:c.788-806dup intron variant NM_001407981.1:c.788-806dup intron variant NM_001407982.1:c.788-806dup intron variant NM_001407983.1:c.788-806dup intron variant NM_001407984.1:c.785-806dup intron variant NM_001407985.1:c.785-806dup intron variant NM_001407986.1:c.785-806dup intron variant NM_001407990.1:c.788-806dup intron variant NM_001407991.1:c.785-806dup intron variant NM_001407992.1:c.785-806dup intron variant NM_001407993.1:c.788-806dup intron variant NM_001408392.1:c.785-806dup intron variant NM_001408396.1:c.785-806dup intron variant NM_001408397.1:c.785-806dup intron variant NM_001408398.1:c.785-806dup intron variant NM_001408399.1:c.785-806dup intron variant NM_001408400.1:c.785-806dup intron variant NM_001408401.1:c.785-806dup intron variant NM_001408402.1:c.785-806dup intron variant NM_001408403.1:c.788-806dup intron variant NM_001408404.1:c.788-806dup intron variant NM_001408406.1:c.791-815dup intron variant NM_001408407.1:c.785-806dup intron variant NM_001408408.1:c.779-806dup intron variant NM_001408409.1:c.710-806dup intron variant NM_001408410.1:c.647-806dup intron variant NM_001408411.1:c.710-806dup intron variant NM_001408412.1:c.710-806dup intron variant NM_001408413.1:c.707-806dup intron variant NM_001408414.1:c.710-806dup intron variant NM_001408415.1:c.710-806dup intron variant NM_001408416.1:c.707-806dup intron variant NM_001408418.1:c.671-806dup intron variant NM_001408419.1:c.671-806dup intron variant NM_001408420.1:c.671-806dup intron variant NM_001408421.1:c.668-806dup intron variant NM_001408422.1:c.671-806dup intron variant NM_001408423.1:c.671-806dup intron variant NM_001408424.1:c.668-806dup intron variant NM_001408425.1:c.665-806dup intron variant NM_001408426.1:c.665-806dup intron variant NM_001408427.1:c.665-806dup intron variant NM_001408428.1:c.665-806dup intron variant NM_001408429.1:c.665-806dup intron variant NM_001408430.1:c.665-806dup intron variant NM_001408431.1:c.668-806dup intron variant NM_001408432.1:c.662-806dup intron variant NM_001408433.1:c.662-806dup intron variant NM_001408434.1:c.662-806dup intron variant NM_001408435.1:c.662-806dup intron variant NM_001408436.1:c.665-806dup intron variant NM_001408437.1:c.665-806dup intron variant NM_001408438.1:c.665-806dup intron variant NM_001408439.1:c.665-806dup intron variant NM_001408440.1:c.665-806dup intron variant NM_001408441.1:c.665-806dup intron variant NM_001408442.1:c.665-806dup intron variant NM_001408443.1:c.665-806dup intron variant NM_001408444.1:c.665-806dup intron variant NM_001408445.1:c.662-806dup intron variant NM_001408446.1:c.662-806dup intron variant NM_001408447.1:c.662-806dup intron variant NM_001408448.1:c.662-806dup intron variant NM_001408450.1:c.662-806dup intron variant NM_001408451.1:c.653-806dup intron variant NM_001408452.1:c.647-806dup intron variant NM_001408453.1:c.647-806dup intron variant NM_001408454.1:c.647-806dup intron variant NM_001408455.1:c.647-806dup intron variant NM_001408456.1:c.647-806dup intron variant NM_001408457.1:c.647-806dup intron variant NM_001408458.1:c.647-806dup intron variant NM_001408459.1:c.647-806dup intron variant NM_001408460.1:c.647-806dup intron variant NM_001408461.1:c.647-806dup intron variant NM_001408462.1:c.644-806dup intron variant NM_001408463.1:c.644-806dup intron variant NM_001408464.1:c.644-806dup intron variant NM_001408465.1:c.644-806dup intron variant NM_001408466.1:c.647-806dup intron variant NM_001408467.1:c.647-806dup intron variant NM_001408468.1:c.644-806dup intron variant NM_001408469.1:c.647-806dup intron variant NM_001408470.1:c.644-806dup intron variant NM_001408472.1:c.788-806dup intron variant NM_001408473.1:c.785-806dup intron variant NM_001408474.1:c.587-806dup intron variant NM_001408475.1:c.584-806dup intron variant NM_001408476.1:c.587-806dup intron variant NM_001408478.1:c.578-806dup intron variant NM_001408479.1:c.578-806dup intron variant NM_001408480.1:c.578-806dup intron variant NM_001408481.1:c.578-806dup intron variant NM_001408482.1:c.578-806dup intron variant NM_001408483.1:c.578-806dup intron variant NM_001408484.1:c.578-806dup intron variant NM_001408485.1:c.578-806dup intron variant NM_001408489.1:c.578-806dup intron variant NM_001408490.1:c.575-806dup intron variant NM_001408491.1:c.575-806dup intron variant NM_001408492.1:c.578-806dup intron variant NM_001408493.1:c.575-806dup intron variant NM_001408494.1:c.548-806dup intron variant NM_001408495.1:c.545-806dup intron variant NM_001408496.1:c.524-806dup intron variant NM_001408497.1:c.524-806dup intron variant NM_001408498.1:c.524-806dup intron variant NM_001408499.1:c.524-806dup intron variant NM_001408500.1:c.524-806dup intron variant NM_001408501.1:c.524-806dup intron variant NM_001408502.1:c.455-806dup intron variant NM_001408503.1:c.521-806dup intron variant NM_001408504.1:c.521-806dup intron variant NM_001408505.1:c.521-806dup intron variant NM_001408506.1:c.461-806dup intron variant NM_001408507.1:c.461-806dup intron variant NM_001408508.1:c.452-806dup intron variant NM_001408509.1:c.452-806dup intron variant NM_001408510.1:c.407-806dup intron variant NM_001408511.1:c.404-806dup intron variant NM_001408512.1:c.284-806dup intron variant NM_001408513.1:c.578-806dup intron variant NM_001408514.1:c.578-806dup intron variant NM_007294.3:c.3693dupT frameshift NM_007297.4:c.3552dup NP_009228.2:p.Gly1185fs frameshift NM_007298.4:c.788-806dup intron variant NM_007299.4:c.788-806dup intron variant NM_007300.4:c.3693dup NP_009231.2:p.Gly1232fs frameshift NR_027676.1:n.3827dup NC_000017.11:g.43091840dup NC_000017.10:g.41243857dup NG_005905.2:g.126146dup NG_087068.1:g.822dup LRG_292:g.126146dup LRG_292t1:c.3691dup LRG_292p1:p.Gly1232Trpfs - Protein change
- G1185fs, G1232fs, G1104fs, G1143fs, G1164fs, G1165fs, G1206fs, G1229fs, G1105fs, G1121fs, G1144fs, G1162fs, G1190fs, G1231fs, G364fs, G1120fs, G1161fs, G936fs, G1064fs, G1184fs, G1191fs, G1205fs
- Other names
-
3812insT
- Canonical SPDI
- NC_000017.11:43091837:AAA:AAAA
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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.
- -
- 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. |
|||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13040 | 14846 | |
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 (2) |
reviewed by expert panel
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Oct 18, 2016 | RCV000257092.13 |
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
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000323650.2
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
(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: SCV000325725.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
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 rs397509092 ...
HelpRecord last updated Oct 27, 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.