ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.1044T>A (p.Cys348Ter)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.1044T>A (p.Cys348Ter)
Variation ID: 254388 Accession: VCV000254388.14
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43094487 (GRCh38) [ NCBI UCSC ] 17: 41246504 (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 Sep 25, 2016 Feb 20, 2024 Sep 8, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.1044T>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Cys348Ter nonsense NM_001407571.1:c.831T>A NP_001394500.1:p.Cys277Ter nonsense NM_001407581.1:c.1044T>A NP_001394510.1:p.Cys348Ter nonsense NM_001407582.1:c.1044T>A NP_001394511.1:p.Cys348Ter nonsense NM_001407583.1:c.1044T>A NP_001394512.1:p.Cys348Ter nonsense NM_001407585.1:c.1044T>A NP_001394514.1:p.Cys348Ter nonsense NM_001407587.1:c.1041T>A NP_001394516.1:p.Cys347Ter nonsense NM_001407590.1:c.1041T>A NP_001394519.1:p.Cys347Ter nonsense NM_001407591.1:c.1041T>A NP_001394520.1:p.Cys347Ter nonsense NM_001407593.1:c.1044T>A NP_001394522.1:p.Cys348Ter nonsense NM_001407594.1:c.1044T>A NP_001394523.1:p.Cys348Ter nonsense NM_001407596.1:c.1044T>A NP_001394525.1:p.Cys348Ter nonsense NM_001407597.1:c.1044T>A NP_001394526.1:p.Cys348Ter nonsense NM_001407598.1:c.1044T>A NP_001394527.1:p.Cys348Ter nonsense NM_001407602.1:c.1044T>A NP_001394531.1:p.Cys348Ter nonsense NM_001407603.1:c.1044T>A NP_001394532.1:p.Cys348Ter nonsense NM_001407605.1:c.1044T>A NP_001394534.1:p.Cys348Ter nonsense NM_001407610.1:c.1041T>A NP_001394539.1:p.Cys347Ter nonsense NM_001407611.1:c.1041T>A NP_001394540.1:p.Cys347Ter nonsense NM_001407612.1:c.1041T>A NP_001394541.1:p.Cys347Ter nonsense NM_001407613.1:c.1041T>A NP_001394542.1:p.Cys347Ter nonsense NM_001407614.1:c.1041T>A NP_001394543.1:p.Cys347Ter nonsense NM_001407615.1:c.1041T>A NP_001394544.1:p.Cys347Ter nonsense NM_001407616.1:c.1044T>A NP_001394545.1:p.Cys348Ter nonsense NM_001407617.1:c.1044T>A NP_001394546.1:p.Cys348Ter nonsense NM_001407618.1:c.1044T>A NP_001394547.1:p.Cys348Ter nonsense NM_001407619.1:c.1044T>A NP_001394548.1:p.Cys348Ter nonsense NM_001407620.1:c.1044T>A NP_001394549.1:p.Cys348Ter nonsense NM_001407621.1:c.1044T>A NP_001394550.1:p.Cys348Ter nonsense NM_001407622.1:c.1044T>A NP_001394551.1:p.Cys348Ter nonsense NM_001407623.1:c.1044T>A NP_001394552.1:p.Cys348Ter nonsense NM_001407624.1:c.1044T>A NP_001394553.1:p.Cys348Ter nonsense NM_001407625.1:c.1044T>A NP_001394554.1:p.Cys348Ter nonsense NM_001407626.1:c.1044T>A NP_001394555.1:p.Cys348Ter nonsense NM_001407627.1:c.1041T>A NP_001394556.1:p.Cys347Ter nonsense NM_001407628.1:c.1041T>A NP_001394557.1:p.Cys347Ter nonsense NM_001407629.1:c.1041T>A NP_001394558.1:p.Cys347Ter nonsense NM_001407630.1:c.1041T>A NP_001394559.1:p.Cys347Ter nonsense NM_001407631.1:c.1041T>A NP_001394560.1:p.Cys347Ter nonsense NM_001407632.1:c.1041T>A NP_001394561.1:p.Cys347Ter nonsense NM_001407633.1:c.1041T>A NP_001394562.1:p.Cys347Ter nonsense NM_001407634.1:c.1041T>A NP_001394563.1:p.Cys347Ter nonsense NM_001407635.1:c.1041T>A NP_001394564.1:p.Cys347Ter nonsense NM_001407636.1:c.1041T>A NP_001394565.1:p.Cys347Ter nonsense NM_001407637.1:c.1041T>A NP_001394566.1:p.Cys347Ter nonsense NM_001407638.1:c.1041T>A NP_001394567.1:p.Cys347Ter nonsense NM_001407639.1:c.1044T>A NP_001394568.1:p.Cys348Ter nonsense NM_001407640.1:c.1044T>A NP_001394569.1:p.Cys348Ter nonsense NM_001407641.1:c.1044T>A NP_001394570.1:p.Cys348Ter nonsense NM_001407642.1:c.1044T>A NP_001394571.1:p.Cys348Ter nonsense NM_001407644.1:c.1041T>A NP_001394573.1:p.Cys347Ter nonsense NM_001407645.1:c.1041T>A NP_001394574.1:p.Cys347Ter nonsense NM_001407646.1:c.1035T>A NP_001394575.1:p.Cys345Ter nonsense NM_001407647.1:c.1035T>A NP_001394576.1:p.Cys345Ter nonsense NM_001407648.1:c.921T>A NP_001394577.1:p.Cys307Ter nonsense NM_001407649.1:c.918T>A NP_001394578.1:p.Cys306Ter nonsense NM_001407652.1:c.1044T>A NP_001394581.1:p.Cys348Ter nonsense NM_001407653.1:c.966T>A NP_001394582.1:p.Cys322Ter nonsense NM_001407654.1:c.966T>A NP_001394583.1:p.Cys322Ter nonsense NM_001407655.1:c.966T>A NP_001394584.1:p.Cys322Ter nonsense NM_001407656.1:c.966T>A NP_001394585.1:p.Cys322Ter nonsense NM_001407657.1:c.966T>A NP_001394586.1:p.Cys322Ter nonsense NM_001407658.1:c.966T>A NP_001394587.1:p.Cys322Ter nonsense NM_001407659.1:c.963T>A NP_001394588.1:p.Cys321Ter nonsense NM_001407660.1:c.963T>A NP_001394589.1:p.Cys321Ter nonsense NM_001407661.1:c.963T>A NP_001394590.1:p.Cys321Ter nonsense NM_001407662.1:c.963T>A NP_001394591.1:p.Cys321Ter nonsense NM_001407663.1:c.966T>A NP_001394592.1:p.Cys322Ter nonsense NM_001407664.1:c.921T>A NP_001394593.1:p.Cys307Ter nonsense NM_001407665.1:c.921T>A NP_001394594.1:p.Cys307Ter nonsense NM_001407666.1:c.921T>A NP_001394595.1:p.Cys307Ter nonsense NM_001407667.1:c.921T>A NP_001394596.1:p.Cys307Ter nonsense NM_001407668.1:c.921T>A NP_001394597.1:p.Cys307Ter nonsense NM_001407669.1:c.921T>A NP_001394598.1:p.Cys307Ter nonsense NM_001407670.1:c.918T>A NP_001394599.1:p.Cys306Ter nonsense NM_001407671.1:c.918T>A NP_001394600.1:p.Cys306Ter nonsense NM_001407672.1:c.918T>A NP_001394601.1:p.Cys306Ter nonsense NM_001407673.1:c.918T>A NP_001394602.1:p.Cys306Ter nonsense NM_001407674.1:c.921T>A NP_001394603.1:p.Cys307Ter nonsense NM_001407675.1:c.921T>A NP_001394604.1:p.Cys307Ter nonsense NM_001407676.1:c.921T>A NP_001394605.1:p.Cys307Ter nonsense NM_001407677.1:c.921T>A NP_001394606.1:p.Cys307Ter nonsense NM_001407678.1:c.921T>A NP_001394607.1:p.Cys307Ter nonsense NM_001407679.1:c.921T>A NP_001394608.1:p.Cys307Ter nonsense NM_001407680.1:c.921T>A NP_001394609.1:p.Cys307Ter nonsense NM_001407681.1:c.921T>A NP_001394610.1:p.Cys307Ter nonsense NM_001407682.1:c.921T>A NP_001394611.1:p.Cys307Ter nonsense NM_001407683.1:c.921T>A NP_001394612.1:p.Cys307Ter nonsense NM_001407684.1:c.1044T>A NP_001394613.1:p.Cys348Ter nonsense NM_001407685.1:c.918T>A NP_001394614.1:p.Cys306Ter nonsense NM_001407686.1:c.918T>A NP_001394615.1:p.Cys306Ter nonsense NM_001407687.1:c.918T>A NP_001394616.1:p.Cys306Ter nonsense NM_001407688.1:c.918T>A NP_001394617.1:p.Cys306Ter nonsense NM_001407689.1:c.918T>A NP_001394618.1:p.Cys306Ter nonsense NM_001407690.1:c.918T>A NP_001394619.1:p.Cys306Ter nonsense NM_001407691.1:c.918T>A NP_001394620.1:p.Cys306Ter nonsense NM_001407692.1:c.903T>A NP_001394621.1:p.Cys301Ter nonsense NM_001407694.1:c.903T>A NP_001394623.1:p.Cys301Ter nonsense NM_001407695.1:c.903T>A NP_001394624.1:p.Cys301Ter nonsense NM_001407696.1:c.903T>A NP_001394625.1:p.Cys301Ter nonsense NM_001407697.1:c.903T>A NP_001394626.1:p.Cys301Ter nonsense NM_001407698.1:c.903T>A NP_001394627.1:p.Cys301Ter nonsense NM_001407724.1:c.903T>A NP_001394653.1:p.Cys301Ter nonsense NM_001407725.1:c.903T>A NP_001394654.1:p.Cys301Ter nonsense NM_001407726.1:c.903T>A NP_001394655.1:p.Cys301Ter nonsense NM_001407727.1:c.903T>A NP_001394656.1:p.Cys301Ter nonsense NM_001407728.1:c.903T>A NP_001394657.1:p.Cys301Ter nonsense NM_001407729.1:c.903T>A NP_001394658.1:p.Cys301Ter nonsense NM_001407730.1:c.903T>A NP_001394659.1:p.Cys301Ter nonsense NM_001407731.1:c.903T>A NP_001394660.1:p.Cys301Ter nonsense NM_001407732.1:c.903T>A NP_001394661.1:p.Cys301Ter nonsense NM_001407733.1:c.903T>A NP_001394662.1:p.Cys301Ter nonsense NM_001407734.1:c.903T>A NP_001394663.1:p.Cys301Ter nonsense NM_001407735.1:c.903T>A NP_001394664.1:p.Cys301Ter nonsense NM_001407736.1:c.903T>A NP_001394665.1:p.Cys301Ter nonsense NM_001407737.1:c.903T>A NP_001394666.1:p.Cys301Ter nonsense NM_001407738.1:c.903T>A NP_001394667.1:p.Cys301Ter nonsense NM_001407739.1:c.903T>A NP_001394668.1:p.Cys301Ter nonsense NM_001407740.1:c.900T>A NP_001394669.1:p.Cys300Ter nonsense NM_001407741.1:c.900T>A NP_001394670.1:p.Cys300Ter nonsense NM_001407742.1:c.900T>A NP_001394671.1:p.Cys300Ter nonsense NM_001407743.1:c.900T>A NP_001394672.1:p.Cys300Ter nonsense NM_001407744.1:c.900T>A NP_001394673.1:p.Cys300Ter nonsense NM_001407745.1:c.900T>A NP_001394674.1:p.Cys300Ter nonsense NM_001407746.1:c.900T>A NP_001394675.1:p.Cys300Ter nonsense NM_001407747.1:c.900T>A NP_001394676.1:p.Cys300Ter nonsense NM_001407748.1:c.900T>A NP_001394677.1:p.Cys300Ter nonsense NM_001407749.1:c.900T>A NP_001394678.1:p.Cys300Ter nonsense NM_001407750.1:c.903T>A NP_001394679.1:p.Cys301Ter nonsense NM_001407751.1:c.903T>A NP_001394680.1:p.Cys301Ter nonsense NM_001407752.1:c.903T>A NP_001394681.1:p.Cys301Ter nonsense NM_001407838.1:c.900T>A NP_001394767.1:p.Cys300Ter nonsense NM_001407839.1:c.900T>A NP_001394768.1:p.Cys300Ter nonsense NM_001407841.1:c.900T>A NP_001394770.1:p.Cys300Ter nonsense NM_001407842.1:c.900T>A NP_001394771.1:p.Cys300Ter nonsense NM_001407843.1:c.900T>A NP_001394772.1:p.Cys300Ter nonsense NM_001407844.1:c.900T>A NP_001394773.1:p.Cys300Ter nonsense NM_001407845.1:c.900T>A NP_001394774.1:p.Cys300Ter nonsense NM_001407846.1:c.900T>A NP_001394775.1:p.Cys300Ter nonsense NM_001407847.1:c.900T>A NP_001394776.1:p.Cys300Ter nonsense NM_001407848.1:c.900T>A NP_001394777.1:p.Cys300Ter nonsense NM_001407849.1:c.900T>A NP_001394778.1:p.Cys300Ter nonsense NM_001407850.1:c.903T>A NP_001394779.1:p.Cys301Ter nonsense NM_001407851.1:c.903T>A NP_001394780.1:p.Cys301Ter nonsense NM_001407852.1:c.903T>A NP_001394781.1:p.Cys301Ter nonsense NM_001407853.1:c.831T>A NP_001394782.1:p.Cys277Ter nonsense NM_001407854.1:c.1044T>A NP_001394783.1:p.Cys348Ter nonsense NM_001407858.1:c.1044T>A NP_001394787.1:p.Cys348Ter nonsense NM_001407859.1:c.1044T>A NP_001394788.1:p.Cys348Ter nonsense NM_001407860.1:c.1041T>A NP_001394789.1:p.Cys347Ter nonsense NM_001407861.1:c.1041T>A NP_001394790.1:p.Cys347Ter nonsense NM_001407862.1:c.843T>A NP_001394791.1:p.Cys281Ter nonsense NM_001407863.1:c.921T>A NP_001394792.1:p.Cys307Ter nonsense NM_001407874.1:c.840T>A NP_001394803.1:p.Cys280Ter nonsense NM_001407875.1:c.840T>A NP_001394804.1:p.Cys280Ter nonsense NM_001407879.1:c.834T>A NP_001394808.1:p.Cys278Ter nonsense NM_001407881.1:c.834T>A NP_001394810.1:p.Cys278Ter nonsense NM_001407882.1:c.834T>A NP_001394811.1:p.Cys278Ter nonsense NM_001407884.1:c.834T>A NP_001394813.1:p.Cys278Ter nonsense NM_001407885.1:c.834T>A NP_001394814.1:p.Cys278Ter nonsense NM_001407886.1:c.834T>A NP_001394815.1:p.Cys278Ter nonsense NM_001407887.1:c.834T>A NP_001394816.1:p.Cys278Ter nonsense NM_001407889.1:c.834T>A NP_001394818.1:p.Cys278Ter nonsense NM_001407894.1:c.831T>A NP_001394823.1:p.Cys277Ter nonsense NM_001407895.1:c.831T>A NP_001394824.1:p.Cys277Ter nonsense NM_001407896.1:c.831T>A NP_001394825.1:p.Cys277Ter nonsense NM_001407897.1:c.831T>A NP_001394826.1:p.Cys277Ter nonsense NM_001407898.1:c.831T>A NP_001394827.1:p.Cys277Ter nonsense NM_001407899.1:c.831T>A NP_001394828.1:p.Cys277Ter nonsense NM_001407900.1:c.834T>A NP_001394829.1:p.Cys278Ter nonsense NM_001407902.1:c.834T>A NP_001394831.1:p.Cys278Ter nonsense NM_001407904.1:c.834T>A NP_001394833.1:p.Cys278Ter nonsense NM_001407906.1:c.834T>A NP_001394835.1:p.Cys278Ter nonsense NM_001407907.1:c.834T>A NP_001394836.1:p.Cys278Ter nonsense NM_001407908.1:c.834T>A NP_001394837.1:p.Cys278Ter nonsense NM_001407909.1:c.834T>A NP_001394838.1:p.Cys278Ter nonsense NM_001407910.1:c.834T>A NP_001394839.1:p.Cys278Ter nonsense NM_001407915.1:c.831T>A NP_001394844.1:p.Cys277Ter nonsense NM_001407916.1:c.831T>A NP_001394845.1:p.Cys277Ter nonsense NM_001407917.1:c.831T>A NP_001394846.1:p.Cys277Ter nonsense NM_001407918.1:c.831T>A NP_001394847.1:p.Cys277Ter nonsense NM_001407919.1:c.921T>A NP_001394848.1:p.Cys307Ter nonsense NM_001407920.1:c.780T>A NP_001394849.1:p.Cys260Ter nonsense NM_001407921.1:c.780T>A NP_001394850.1:p.Cys260Ter nonsense NM_001407922.1:c.780T>A NP_001394851.1:p.Cys260Ter nonsense NM_001407923.1:c.780T>A NP_001394852.1:p.Cys260Ter nonsense NM_001407924.1:c.780T>A NP_001394853.1:p.Cys260Ter nonsense NM_001407925.1:c.780T>A NP_001394854.1:p.Cys260Ter nonsense NM_001407926.1:c.780T>A NP_001394855.1:p.Cys260Ter nonsense NM_001407927.1:c.780T>A NP_001394856.1:p.Cys260Ter nonsense NM_001407928.1:c.780T>A NP_001394857.1:p.Cys260Ter nonsense NM_001407929.1:c.780T>A NP_001394858.1:p.Cys260Ter nonsense NM_001407930.1:c.777T>A NP_001394859.1:p.Cys259Ter nonsense NM_001407931.1:c.777T>A NP_001394860.1:p.Cys259Ter nonsense NM_001407932.1:c.777T>A NP_001394861.1:p.Cys259Ter nonsense NM_001407933.1:c.780T>A NP_001394862.1:p.Cys260Ter nonsense NM_001407934.1:c.777T>A NP_001394863.1:p.Cys259Ter nonsense NM_001407935.1:c.780T>A NP_001394864.1:p.Cys260Ter nonsense NM_001407936.1:c.777T>A NP_001394865.1:p.Cys259Ter nonsense NM_001407937.1:c.921T>A NP_001394866.1:p.Cys307Ter nonsense NM_001407938.1:c.921T>A NP_001394867.1:p.Cys307Ter nonsense NM_001407939.1:c.921T>A NP_001394868.1:p.Cys307Ter nonsense NM_001407940.1:c.918T>A NP_001394869.1:p.Cys306Ter nonsense NM_001407941.1:c.918T>A NP_001394870.1:p.Cys306Ter nonsense NM_001407942.1:c.903T>A NP_001394871.1:p.Cys301Ter nonsense NM_001407943.1:c.900T>A NP_001394872.1:p.Cys300Ter nonsense NM_001407944.1:c.903T>A NP_001394873.1:p.Cys301Ter nonsense NM_001407945.1:c.903T>A NP_001394874.1:p.Cys301Ter nonsense NM_001407946.1:c.711T>A NP_001394875.1:p.Cys237Ter nonsense NM_001407947.1:c.711T>A NP_001394876.1:p.Cys237Ter nonsense NM_001407948.1:c.711T>A NP_001394877.1:p.Cys237Ter nonsense NM_001407949.1:c.711T>A NP_001394878.1:p.Cys237Ter nonsense NM_001407950.1:c.711T>A NP_001394879.1:p.Cys237Ter nonsense NM_001407951.1:c.711T>A NP_001394880.1:p.Cys237Ter nonsense NM_001407952.1:c.711T>A NP_001394881.1:p.Cys237Ter nonsense NM_001407953.1:c.711T>A NP_001394882.1:p.Cys237Ter nonsense NM_001407954.1:c.708T>A NP_001394883.1:p.Cys236Ter nonsense NM_001407955.1:c.708T>A NP_001394884.1:p.Cys236Ter nonsense NM_001407956.1:c.708T>A NP_001394885.1:p.Cys236Ter nonsense NM_001407957.1:c.711T>A NP_001394886.1:p.Cys237Ter nonsense NM_001407958.1:c.708T>A NP_001394887.1:p.Cys236Ter nonsense NM_001407959.1:c.663T>A NP_001394888.1:p.Cys221Ter nonsense NM_001407960.1:c.663T>A NP_001394889.1:p.Cys221Ter nonsense NM_001407962.1:c.660T>A NP_001394891.1:p.Cys220Ter nonsense NM_001407963.1:c.663T>A NP_001394892.1:p.Cys221Ter nonsense NM_001407964.1:c.900T>A NP_001394893.1:p.Cys300Ter nonsense NM_001407965.1:c.540T>A NP_001394894.1:p.Cys180Ter nonsense NM_001407966.1:c.156T>A NP_001394895.1:p.Cys52Ter nonsense NM_001407967.1:c.156T>A NP_001394896.1:p.Cys52Ter nonsense NM_001407968.1:c.787+257T>A intron variant NM_001407969.1:c.787+257T>A intron variant NM_001407970.1:c.787+257T>A intron variant NM_001407971.1:c.787+257T>A intron variant NM_001407972.1:c.784+257T>A intron variant NM_001407973.1:c.787+257T>A intron variant NM_001407974.1:c.787+257T>A intron variant NM_001407975.1:c.787+257T>A intron variant NM_001407976.1:c.787+257T>A intron variant NM_001407977.1:c.787+257T>A intron variant NM_001407978.1:c.787+257T>A intron variant NM_001407979.1:c.787+257T>A intron variant NM_001407980.1:c.787+257T>A intron variant NM_001407981.1:c.787+257T>A intron variant NM_001407982.1:c.787+257T>A intron variant NM_001407983.1:c.787+257T>A intron variant NM_001407984.1:c.784+257T>A intron variant NM_001407985.1:c.784+257T>A intron variant NM_001407986.1:c.784+257T>A intron variant NM_001407990.1:c.787+257T>A intron variant NM_001407991.1:c.784+257T>A intron variant NM_001407992.1:c.784+257T>A intron variant NM_001407993.1:c.787+257T>A intron variant NM_001408392.1:c.784+257T>A intron variant NM_001408396.1:c.784+257T>A intron variant NM_001408397.1:c.784+257T>A intron variant NM_001408398.1:c.784+257T>A intron variant NM_001408399.1:c.784+257T>A intron variant NM_001408400.1:c.784+257T>A intron variant NM_001408401.1:c.784+257T>A intron variant NM_001408402.1:c.784+257T>A intron variant NM_001408403.1:c.787+257T>A intron variant NM_001408404.1:c.787+257T>A intron variant NM_001408406.1:c.790+254T>A intron variant NM_001408407.1:c.784+257T>A intron variant NM_001408408.1:c.778+257T>A intron variant NM_001408409.1:c.709+257T>A intron variant NM_001408410.1:c.646+257T>A intron variant NM_001408411.1:c.709+257T>A intron variant NM_001408412.1:c.709+257T>A intron variant NM_001408413.1:c.706+257T>A intron variant NM_001408414.1:c.709+257T>A intron variant NM_001408415.1:c.709+257T>A intron variant NM_001408416.1:c.706+257T>A intron variant NM_001408418.1:c.670+1359T>A intron variant NM_001408419.1:c.670+1359T>A intron variant NM_001408420.1:c.670+1359T>A intron variant NM_001408421.1:c.667+1359T>A intron variant NM_001408422.1:c.670+1359T>A intron variant NM_001408423.1:c.670+1359T>A intron variant NM_001408424.1:c.667+1359T>A intron variant NM_001408425.1:c.664+257T>A intron variant NM_001408426.1:c.664+257T>A intron variant NM_001408427.1:c.664+257T>A intron variant NM_001408428.1:c.664+257T>A intron variant NM_001408429.1:c.664+257T>A intron variant NM_001408430.1:c.664+257T>A intron variant NM_001408431.1:c.667+1359T>A intron variant NM_001408432.1:c.661+257T>A intron variant NM_001408433.1:c.661+257T>A intron variant NM_001408434.1:c.661+257T>A intron variant NM_001408435.1:c.661+257T>A intron variant NM_001408436.1:c.664+257T>A intron variant NM_001408437.1:c.664+257T>A intron variant NM_001408438.1:c.664+257T>A intron variant NM_001408439.1:c.664+257T>A intron variant NM_001408440.1:c.664+257T>A intron variant NM_001408441.1:c.664+257T>A intron variant NM_001408442.1:c.664+257T>A intron variant NM_001408443.1:c.664+257T>A intron variant NM_001408444.1:c.664+257T>A intron variant NM_001408445.1:c.661+257T>A intron variant NM_001408446.1:c.661+257T>A intron variant NM_001408447.1:c.661+257T>A intron variant NM_001408448.1:c.661+257T>A intron variant NM_001408450.1:c.661+257T>A intron variant NM_001408451.1:c.652+257T>A intron variant NM_001408452.1:c.646+257T>A intron variant NM_001408453.1:c.646+257T>A intron variant NM_001408454.1:c.646+257T>A intron variant NM_001408455.1:c.646+257T>A intron variant NM_001408456.1:c.646+257T>A intron variant NM_001408457.1:c.646+257T>A intron variant NM_001408458.1:c.646+257T>A intron variant NM_001408459.1:c.646+257T>A intron variant NM_001408460.1:c.646+257T>A intron variant NM_001408461.1:c.646+257T>A intron variant NM_001408462.1:c.643+257T>A intron variant NM_001408463.1:c.643+257T>A intron variant NM_001408464.1:c.643+257T>A intron variant NM_001408465.1:c.643+257T>A intron variant NM_001408466.1:c.646+257T>A intron variant NM_001408467.1:c.646+257T>A intron variant NM_001408468.1:c.643+257T>A intron variant NM_001408469.1:c.646+257T>A intron variant NM_001408470.1:c.643+257T>A intron variant NM_001408472.1:c.787+257T>A intron variant NM_001408473.1:c.784+257T>A intron variant NM_001408474.1:c.586+257T>A intron variant NM_001408475.1:c.583+257T>A intron variant NM_001408476.1:c.586+257T>A intron variant NM_001408478.1:c.577+257T>A intron variant NM_001408479.1:c.577+257T>A intron variant NM_001408480.1:c.577+257T>A intron variant NM_001408481.1:c.577+257T>A intron variant NM_001408482.1:c.577+257T>A intron variant NM_001408483.1:c.577+257T>A intron variant NM_001408484.1:c.577+257T>A intron variant NM_001408485.1:c.577+257T>A intron variant NM_001408489.1:c.577+257T>A intron variant NM_001408490.1:c.574+257T>A intron variant NM_001408491.1:c.574+257T>A intron variant NM_001408492.1:c.577+257T>A intron variant NM_001408493.1:c.574+257T>A intron variant NM_001408494.1:c.548-3455T>A intron variant NM_001408495.1:c.545-3455T>A intron variant NM_001408496.1:c.523+257T>A intron variant NM_001408497.1:c.523+257T>A intron variant NM_001408498.1:c.523+257T>A intron variant NM_001408499.1:c.523+257T>A intron variant NM_001408500.1:c.523+257T>A intron variant NM_001408501.1:c.523+257T>A intron variant NM_001408502.1:c.454+257T>A intron variant NM_001408503.1:c.520+257T>A intron variant NM_001408504.1:c.520+257T>A intron variant NM_001408505.1:c.520+257T>A intron variant NM_001408506.1:c.460+1359T>A intron variant NM_001408507.1:c.460+1359T>A intron variant NM_001408508.1:c.451+257T>A intron variant NM_001408509.1:c.451+257T>A intron variant NM_001408510.1:c.406+257T>A intron variant NM_001408511.1:c.404-3455T>A intron variant NM_001408512.1:c.283+257T>A intron variant NM_001408513.1:c.577+257T>A intron variant NM_001408514.1:c.577+257T>A intron variant NM_007297.4:c.903T>A NP_009228.2:p.Cys301Ter nonsense NM_007298.4:c.787+257T>A intron variant NM_007299.4:c.787+257T>A intron variant NM_007300.4:c.1044T>A NP_009231.2:p.Cys348Ter nonsense NR_027676.1:n.1180T>A NC_000017.11:g.43094487A>T NC_000017.10:g.41246504A>T NG_005905.2:g.123497T>A LRG_292:g.123497T>A LRG_292t1:c.1044T>A LRG_292p1:p.Cys348Ter - Protein change
- C348*, C301*, C259*, C280*, C321*, C347*, C237*, C260*, C300*, C307*, C345*, C180*, C220*, C221*, C277*, C278*, C306*, C236*, C281*, C322*, C52*
- Other names
- -
- Canonical SPDI
- NC_000017.11:43094486:A:T
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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.
- -
- 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 |
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
|
Sep 8, 2016 | RCV000241430.5 | |
Pathogenic/Likely pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Oct 8, 2021 | RCV001236402.10 |
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: SCV000299525.2
First in ClinVar: Sep 25, 2016 Last updated: Sep 25, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
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Likely pathogenic
(Oct 08, 2021)
|
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: SCV002014813.1
First in ClinVar: Nov 20, 2021 Last updated: Nov 20, 2021 |
Comment:
Variant summary: BRCA1 c.1044T>A (p.Cys348X) 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.1044T>A (p.Cys348X) 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 was absent in 251198 control chromosomes (gnomAD). To our knowledge, no occurrence of c.1044T>A in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory and one expert panel (ENIGMA) have submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. (less)
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Pathogenic
(Aug 01, 2023)
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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:
unknown
|
Unidad Asesoramiento Genetico Oncologico Falp, Instituto Oncologico Fundacion Arturo Lopez Perez
Accession: SCV004024154.1
First in ClinVar: Aug 13, 2023 Last updated: Aug 13, 2023 |
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Pathogenic
(May 08, 2023)
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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:
unknown
|
Baylor Genetics
Accession: SCV004215137.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
|
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Pathogenic
(Nov 01, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001409125.5
First in ClinVar: Jul 16, 2020 Last updated: Feb 20, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been … (more)
For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 254388). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys348*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. (less)
|
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 |
---|---|---|---|---|
LOVD v.2.0: the next generation in gene variant databases. | Fokkema IF | Human mutation | 2011 | PMID: 21520333 |
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 |
Text-mined citations for rs886037985 ...
HelpRecord last updated Oct 08, 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.