ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.403A>T (p.Lys135Ter)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.403A>T (p.Lys135Ter)
Variation ID: 252876 Accession: VCV000252876.6
- Type and length
-
single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43104160 (GRCh38) [ NCBI UCSC ] 17: 41256177 (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 Aug 1, 2016 Aug 11, 2024 Dec 15, 2017 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.403A>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Lys135Ter nonsense NM_001407571.1:c.193A>T NP_001394500.1:p.Lys65Ter nonsense NM_001407581.1:c.403A>T NP_001394510.1:p.Lys135Ter nonsense NM_001407582.1:c.403A>T NP_001394511.1:p.Lys135Ter nonsense NM_001407583.1:c.403A>T NP_001394512.1:p.Lys135Ter nonsense NM_001407585.1:c.403A>T NP_001394514.1:p.Lys135Ter nonsense NM_001407587.1:c.403A>T NP_001394516.1:p.Lys135Ter nonsense NM_001407590.1:c.403A>T NP_001394519.1:p.Lys135Ter nonsense NM_001407591.1:c.403A>T NP_001394520.1:p.Lys135Ter nonsense NM_001407593.1:c.403A>T NP_001394522.1:p.Lys135Ter nonsense NM_001407594.1:c.403A>T NP_001394523.1:p.Lys135Ter nonsense NM_001407596.1:c.403A>T NP_001394525.1:p.Lys135Ter nonsense NM_001407597.1:c.403A>T NP_001394526.1:p.Lys135Ter nonsense NM_001407598.1:c.403A>T NP_001394527.1:p.Lys135Ter nonsense NM_001407602.1:c.403A>T NP_001394531.1:p.Lys135Ter nonsense NM_001407603.1:c.403A>T NP_001394532.1:p.Lys135Ter nonsense NM_001407605.1:c.403A>T NP_001394534.1:p.Lys135Ter nonsense NM_001407610.1:c.403A>T NP_001394539.1:p.Lys135Ter nonsense NM_001407611.1:c.403A>T NP_001394540.1:p.Lys135Ter nonsense NM_001407612.1:c.403A>T NP_001394541.1:p.Lys135Ter nonsense NM_001407613.1:c.403A>T NP_001394542.1:p.Lys135Ter nonsense NM_001407614.1:c.403A>T NP_001394543.1:p.Lys135Ter nonsense NM_001407615.1:c.403A>T NP_001394544.1:p.Lys135Ter nonsense NM_001407616.1:c.403A>T NP_001394545.1:p.Lys135Ter nonsense NM_001407617.1:c.403A>T NP_001394546.1:p.Lys135Ter nonsense NM_001407618.1:c.403A>T NP_001394547.1:p.Lys135Ter nonsense NM_001407619.1:c.403A>T NP_001394548.1:p.Lys135Ter nonsense NM_001407620.1:c.403A>T NP_001394549.1:p.Lys135Ter nonsense NM_001407621.1:c.403A>T NP_001394550.1:p.Lys135Ter nonsense NM_001407622.1:c.403A>T NP_001394551.1:p.Lys135Ter nonsense NM_001407623.1:c.403A>T NP_001394552.1:p.Lys135Ter nonsense NM_001407624.1:c.403A>T NP_001394553.1:p.Lys135Ter nonsense NM_001407625.1:c.403A>T NP_001394554.1:p.Lys135Ter nonsense NM_001407626.1:c.403A>T NP_001394555.1:p.Lys135Ter nonsense NM_001407627.1:c.403A>T NP_001394556.1:p.Lys135Ter nonsense NM_001407628.1:c.403A>T NP_001394557.1:p.Lys135Ter nonsense NM_001407629.1:c.403A>T NP_001394558.1:p.Lys135Ter nonsense NM_001407630.1:c.403A>T NP_001394559.1:p.Lys135Ter nonsense NM_001407631.1:c.403A>T NP_001394560.1:p.Lys135Ter nonsense NM_001407632.1:c.403A>T NP_001394561.1:p.Lys135Ter nonsense NM_001407633.1:c.403A>T NP_001394562.1:p.Lys135Ter nonsense NM_001407634.1:c.403A>T NP_001394563.1:p.Lys135Ter nonsense NM_001407635.1:c.403A>T NP_001394564.1:p.Lys135Ter nonsense NM_001407636.1:c.403A>T NP_001394565.1:p.Lys135Ter nonsense NM_001407637.1:c.403A>T NP_001394566.1:p.Lys135Ter nonsense NM_001407638.1:c.403A>T NP_001394567.1:p.Lys135Ter nonsense NM_001407639.1:c.403A>T NP_001394568.1:p.Lys135Ter nonsense NM_001407640.1:c.403A>T NP_001394569.1:p.Lys135Ter nonsense NM_001407641.1:c.403A>T NP_001394570.1:p.Lys135Ter nonsense NM_001407642.1:c.403A>T NP_001394571.1:p.Lys135Ter nonsense NM_001407644.1:c.403A>T NP_001394573.1:p.Lys135Ter nonsense NM_001407645.1:c.403A>T NP_001394574.1:p.Lys135Ter nonsense NM_001407646.1:c.394A>T NP_001394575.1:p.Lys132Ter nonsense NM_001407647.1:c.394A>T NP_001394576.1:p.Lys132Ter nonsense NM_001407648.1:c.403A>T NP_001394577.1:p.Lys135Ter nonsense NM_001407649.1:c.403A>T NP_001394578.1:p.Lys135Ter nonsense NM_001407652.1:c.403A>T NP_001394581.1:p.Lys135Ter nonsense NM_001407653.1:c.325A>T NP_001394582.1:p.Lys109Ter nonsense NM_001407654.1:c.325A>T NP_001394583.1:p.Lys109Ter nonsense NM_001407655.1:c.325A>T NP_001394584.1:p.Lys109Ter nonsense NM_001407656.1:c.325A>T NP_001394585.1:p.Lys109Ter nonsense NM_001407657.1:c.325A>T NP_001394586.1:p.Lys109Ter nonsense NM_001407658.1:c.325A>T NP_001394587.1:p.Lys109Ter nonsense NM_001407659.1:c.325A>T NP_001394588.1:p.Lys109Ter nonsense NM_001407660.1:c.325A>T NP_001394589.1:p.Lys109Ter nonsense NM_001407661.1:c.325A>T NP_001394590.1:p.Lys109Ter nonsense NM_001407662.1:c.325A>T NP_001394591.1:p.Lys109Ter nonsense NM_001407663.1:c.325A>T NP_001394592.1:p.Lys109Ter nonsense NM_001407664.1:c.403A>T NP_001394593.1:p.Lys135Ter nonsense NM_001407665.1:c.403A>T NP_001394594.1:p.Lys135Ter nonsense NM_001407666.1:c.403A>T NP_001394595.1:p.Lys135Ter nonsense NM_001407667.1:c.403A>T NP_001394596.1:p.Lys135Ter nonsense NM_001407668.1:c.403A>T NP_001394597.1:p.Lys135Ter nonsense NM_001407669.1:c.403A>T NP_001394598.1:p.Lys135Ter nonsense NM_001407670.1:c.403A>T NP_001394599.1:p.Lys135Ter nonsense NM_001407671.1:c.403A>T NP_001394600.1:p.Lys135Ter nonsense NM_001407672.1:c.403A>T NP_001394601.1:p.Lys135Ter nonsense NM_001407673.1:c.403A>T NP_001394602.1:p.Lys135Ter nonsense NM_001407674.1:c.403A>T NP_001394603.1:p.Lys135Ter nonsense NM_001407675.1:c.403A>T NP_001394604.1:p.Lys135Ter nonsense NM_001407676.1:c.403A>T NP_001394605.1:p.Lys135Ter nonsense NM_001407677.1:c.403A>T NP_001394606.1:p.Lys135Ter nonsense NM_001407678.1:c.403A>T NP_001394607.1:p.Lys135Ter nonsense NM_001407679.1:c.403A>T NP_001394608.1:p.Lys135Ter nonsense NM_001407680.1:c.403A>T NP_001394609.1:p.Lys135Ter nonsense NM_001407681.1:c.403A>T NP_001394610.1:p.Lys135Ter nonsense NM_001407682.1:c.403A>T NP_001394611.1:p.Lys135Ter nonsense NM_001407683.1:c.403A>T NP_001394612.1:p.Lys135Ter nonsense NM_001407684.1:c.403A>T NP_001394613.1:p.Lys135Ter nonsense NM_001407685.1:c.403A>T NP_001394614.1:p.Lys135Ter nonsense NM_001407686.1:c.403A>T NP_001394615.1:p.Lys135Ter nonsense NM_001407687.1:c.403A>T NP_001394616.1:p.Lys135Ter nonsense NM_001407688.1:c.403A>T NP_001394617.1:p.Lys135Ter nonsense NM_001407689.1:c.403A>T NP_001394618.1:p.Lys135Ter nonsense NM_001407690.1:c.403A>T NP_001394619.1:p.Lys135Ter nonsense NM_001407691.1:c.403A>T NP_001394620.1:p.Lys135Ter nonsense NM_001407692.1:c.262A>T NP_001394621.1:p.Lys88Ter nonsense NM_001407694.1:c.262A>T NP_001394623.1:p.Lys88Ter nonsense NM_001407695.1:c.262A>T NP_001394624.1:p.Lys88Ter nonsense NM_001407696.1:c.262A>T NP_001394625.1:p.Lys88Ter nonsense NM_001407697.1:c.262A>T NP_001394626.1:p.Lys88Ter nonsense NM_001407698.1:c.262A>T NP_001394627.1:p.Lys88Ter nonsense NM_001407724.1:c.262A>T NP_001394653.1:p.Lys88Ter nonsense NM_001407725.1:c.262A>T NP_001394654.1:p.Lys88Ter nonsense NM_001407726.1:c.262A>T NP_001394655.1:p.Lys88Ter nonsense NM_001407727.1:c.262A>T NP_001394656.1:p.Lys88Ter nonsense NM_001407728.1:c.262A>T NP_001394657.1:p.Lys88Ter nonsense NM_001407729.1:c.262A>T NP_001394658.1:p.Lys88Ter nonsense NM_001407730.1:c.262A>T NP_001394659.1:p.Lys88Ter nonsense NM_001407731.1:c.262A>T NP_001394660.1:p.Lys88Ter nonsense NM_001407732.1:c.262A>T NP_001394661.1:p.Lys88Ter nonsense NM_001407733.1:c.262A>T NP_001394662.1:p.Lys88Ter nonsense NM_001407734.1:c.262A>T NP_001394663.1:p.Lys88Ter nonsense NM_001407735.1:c.262A>T NP_001394664.1:p.Lys88Ter nonsense NM_001407736.1:c.262A>T NP_001394665.1:p.Lys88Ter nonsense NM_001407737.1:c.262A>T NP_001394666.1:p.Lys88Ter nonsense NM_001407738.1:c.262A>T NP_001394667.1:p.Lys88Ter nonsense NM_001407739.1:c.262A>T NP_001394668.1:p.Lys88Ter nonsense NM_001407740.1:c.262A>T NP_001394669.1:p.Lys88Ter nonsense NM_001407741.1:c.262A>T NP_001394670.1:p.Lys88Ter nonsense NM_001407742.1:c.262A>T NP_001394671.1:p.Lys88Ter nonsense NM_001407743.1:c.262A>T NP_001394672.1:p.Lys88Ter nonsense NM_001407744.1:c.262A>T NP_001394673.1:p.Lys88Ter nonsense NM_001407745.1:c.262A>T NP_001394674.1:p.Lys88Ter nonsense NM_001407746.1:c.262A>T NP_001394675.1:p.Lys88Ter nonsense NM_001407747.1:c.262A>T NP_001394676.1:p.Lys88Ter nonsense NM_001407748.1:c.262A>T NP_001394677.1:p.Lys88Ter nonsense NM_001407749.1:c.262A>T NP_001394678.1:p.Lys88Ter nonsense NM_001407750.1:c.262A>T NP_001394679.1:p.Lys88Ter nonsense NM_001407751.1:c.262A>T NP_001394680.1:p.Lys88Ter nonsense NM_001407752.1:c.262A>T NP_001394681.1:p.Lys88Ter nonsense NM_001407838.1:c.262A>T NP_001394767.1:p.Lys88Ter nonsense NM_001407839.1:c.262A>T NP_001394768.1:p.Lys88Ter nonsense NM_001407841.1:c.262A>T NP_001394770.1:p.Lys88Ter nonsense NM_001407842.1:c.262A>T NP_001394771.1:p.Lys88Ter nonsense NM_001407843.1:c.262A>T NP_001394772.1:p.Lys88Ter nonsense NM_001407844.1:c.262A>T NP_001394773.1:p.Lys88Ter nonsense NM_001407845.1:c.262A>T NP_001394774.1:p.Lys88Ter nonsense NM_001407846.1:c.262A>T NP_001394775.1:p.Lys88Ter nonsense NM_001407847.1:c.262A>T NP_001394776.1:p.Lys88Ter nonsense NM_001407848.1:c.262A>T NP_001394777.1:p.Lys88Ter nonsense NM_001407849.1:c.262A>T NP_001394778.1:p.Lys88Ter nonsense NM_001407850.1:c.262A>T NP_001394779.1:p.Lys88Ter nonsense NM_001407851.1:c.262A>T NP_001394780.1:p.Lys88Ter nonsense NM_001407852.1:c.262A>T NP_001394781.1:p.Lys88Ter nonsense NM_001407853.1:c.193A>T NP_001394782.1:p.Lys65Ter nonsense NM_001407854.1:c.403A>T NP_001394783.1:p.Lys135Ter nonsense NM_001407858.1:c.403A>T NP_001394787.1:p.Lys135Ter nonsense NM_001407859.1:c.403A>T NP_001394788.1:p.Lys135Ter nonsense NM_001407860.1:c.403A>T NP_001394789.1:p.Lys135Ter nonsense NM_001407861.1:c.403A>T NP_001394790.1:p.Lys135Ter nonsense NM_001407862.1:c.325A>T NP_001394791.1:p.Lys109Ter nonsense NM_001407863.1:c.403A>T NP_001394792.1:p.Lys135Ter nonsense NM_001407874.1:c.325A>T NP_001394803.1:p.Lys109Ter nonsense NM_001407875.1:c.325A>T NP_001394804.1:p.Lys109Ter nonsense NM_001407879.1:c.193A>T NP_001394808.1:p.Lys65Ter nonsense NM_001407881.1:c.193A>T NP_001394810.1:p.Lys65Ter nonsense NM_001407882.1:c.193A>T NP_001394811.1:p.Lys65Ter nonsense NM_001407884.1:c.193A>T NP_001394813.1:p.Lys65Ter nonsense NM_001407885.1:c.193A>T NP_001394814.1:p.Lys65Ter nonsense NM_001407886.1:c.193A>T NP_001394815.1:p.Lys65Ter nonsense NM_001407887.1:c.193A>T NP_001394816.1:p.Lys65Ter nonsense NM_001407889.1:c.193A>T NP_001394818.1:p.Lys65Ter nonsense NM_001407894.1:c.193A>T NP_001394823.1:p.Lys65Ter nonsense NM_001407895.1:c.193A>T NP_001394824.1:p.Lys65Ter nonsense NM_001407896.1:c.193A>T NP_001394825.1:p.Lys65Ter nonsense NM_001407897.1:c.193A>T NP_001394826.1:p.Lys65Ter nonsense NM_001407898.1:c.193A>T NP_001394827.1:p.Lys65Ter nonsense NM_001407899.1:c.193A>T NP_001394828.1:p.Lys65Ter nonsense NM_001407900.1:c.193A>T NP_001394829.1:p.Lys65Ter nonsense NM_001407902.1:c.193A>T NP_001394831.1:p.Lys65Ter nonsense NM_001407904.1:c.193A>T NP_001394833.1:p.Lys65Ter nonsense NM_001407906.1:c.193A>T NP_001394835.1:p.Lys65Ter nonsense NM_001407907.1:c.193A>T NP_001394836.1:p.Lys65Ter nonsense NM_001407908.1:c.193A>T NP_001394837.1:p.Lys65Ter nonsense NM_001407909.1:c.193A>T NP_001394838.1:p.Lys65Ter nonsense NM_001407910.1:c.193A>T NP_001394839.1:p.Lys65Ter nonsense NM_001407915.1:c.193A>T NP_001394844.1:p.Lys65Ter nonsense NM_001407916.1:c.193A>T NP_001394845.1:p.Lys65Ter nonsense NM_001407917.1:c.193A>T NP_001394846.1:p.Lys65Ter nonsense NM_001407918.1:c.193A>T NP_001394847.1:p.Lys65Ter nonsense NM_001407919.1:c.403A>T NP_001394848.1:p.Lys135Ter nonsense NM_001407920.1:c.262A>T NP_001394849.1:p.Lys88Ter nonsense NM_001407921.1:c.262A>T NP_001394850.1:p.Lys88Ter nonsense NM_001407922.1:c.262A>T NP_001394851.1:p.Lys88Ter nonsense NM_001407923.1:c.262A>T NP_001394852.1:p.Lys88Ter nonsense NM_001407924.1:c.262A>T NP_001394853.1:p.Lys88Ter nonsense NM_001407925.1:c.262A>T NP_001394854.1:p.Lys88Ter nonsense NM_001407926.1:c.262A>T NP_001394855.1:p.Lys88Ter nonsense NM_001407927.1:c.262A>T NP_001394856.1:p.Lys88Ter nonsense NM_001407928.1:c.262A>T NP_001394857.1:p.Lys88Ter nonsense NM_001407929.1:c.262A>T NP_001394858.1:p.Lys88Ter nonsense NM_001407930.1:c.262A>T NP_001394859.1:p.Lys88Ter nonsense NM_001407931.1:c.262A>T NP_001394860.1:p.Lys88Ter nonsense NM_001407932.1:c.262A>T NP_001394861.1:p.Lys88Ter nonsense NM_001407933.1:c.262A>T NP_001394862.1:p.Lys88Ter nonsense NM_001407934.1:c.262A>T NP_001394863.1:p.Lys88Ter nonsense NM_001407935.1:c.262A>T NP_001394864.1:p.Lys88Ter nonsense NM_001407936.1:c.262A>T NP_001394865.1:p.Lys88Ter nonsense NM_001407937.1:c.403A>T NP_001394866.1:p.Lys135Ter nonsense NM_001407938.1:c.403A>T NP_001394867.1:p.Lys135Ter nonsense NM_001407939.1:c.403A>T NP_001394868.1:p.Lys135Ter nonsense NM_001407940.1:c.403A>T NP_001394869.1:p.Lys135Ter nonsense NM_001407941.1:c.403A>T NP_001394870.1:p.Lys135Ter nonsense NM_001407942.1:c.262A>T NP_001394871.1:p.Lys88Ter nonsense NM_001407943.1:c.262A>T NP_001394872.1:p.Lys88Ter nonsense NM_001407944.1:c.262A>T NP_001394873.1:p.Lys88Ter nonsense NM_001407945.1:c.262A>T NP_001394874.1:p.Lys88Ter nonsense NM_001407946.1:c.193A>T NP_001394875.1:p.Lys65Ter nonsense NM_001407947.1:c.193A>T NP_001394876.1:p.Lys65Ter nonsense NM_001407948.1:c.193A>T NP_001394877.1:p.Lys65Ter nonsense NM_001407949.1:c.193A>T NP_001394878.1:p.Lys65Ter nonsense NM_001407950.1:c.193A>T NP_001394879.1:p.Lys65Ter nonsense NM_001407951.1:c.193A>T NP_001394880.1:p.Lys65Ter nonsense NM_001407952.1:c.193A>T NP_001394881.1:p.Lys65Ter nonsense NM_001407953.1:c.193A>T NP_001394882.1:p.Lys65Ter nonsense NM_001407954.1:c.193A>T NP_001394883.1:p.Lys65Ter nonsense NM_001407955.1:c.193A>T NP_001394884.1:p.Lys65Ter nonsense NM_001407956.1:c.193A>T NP_001394885.1:p.Lys65Ter nonsense NM_001407957.1:c.193A>T NP_001394886.1:p.Lys65Ter nonsense NM_001407958.1:c.193A>T NP_001394887.1:p.Lys65Ter nonsense NM_001407959.1:c.22A>T NP_001394888.1:p.Lys8Ter nonsense NM_001407960.1:c.22A>T NP_001394889.1:p.Lys8Ter nonsense NM_001407962.1:c.22A>T NP_001394891.1:p.Lys8Ter nonsense NM_001407963.1:c.22A>T NP_001394892.1:p.Lys8Ter nonsense NM_001407964.1:c.262A>T NP_001394893.1:p.Lys88Ter nonsense NM_001407965.1:c.22A>T NP_001394894.1:p.Lys8Ter nonsense NM_001407968.1:c.403A>T NP_001394897.1:p.Lys135Ter nonsense NM_001407969.1:c.403A>T NP_001394898.1:p.Lys135Ter nonsense NM_001407970.1:c.403A>T NP_001394899.1:p.Lys135Ter nonsense NM_001407971.1:c.403A>T NP_001394900.1:p.Lys135Ter nonsense NM_001407972.1:c.403A>T NP_001394901.1:p.Lys135Ter nonsense NM_001407973.1:c.403A>T NP_001394902.1:p.Lys135Ter nonsense NM_001407974.1:c.403A>T NP_001394903.1:p.Lys135Ter nonsense NM_001407975.1:c.403A>T NP_001394904.1:p.Lys135Ter nonsense NM_001407976.1:c.403A>T NP_001394905.1:p.Lys135Ter nonsense NM_001407977.1:c.403A>T NP_001394906.1:p.Lys135Ter nonsense NM_001407978.1:c.403A>T NP_001394907.1:p.Lys135Ter nonsense NM_001407979.1:c.403A>T NP_001394908.1:p.Lys135Ter nonsense NM_001407980.1:c.403A>T NP_001394909.1:p.Lys135Ter nonsense NM_001407981.1:c.403A>T NP_001394910.1:p.Lys135Ter nonsense NM_001407982.1:c.403A>T NP_001394911.1:p.Lys135Ter nonsense NM_001407983.1:c.403A>T NP_001394912.1:p.Lys135Ter nonsense NM_001407984.1:c.403A>T NP_001394913.1:p.Lys135Ter nonsense NM_001407985.1:c.403A>T NP_001394914.1:p.Lys135Ter nonsense NM_001407986.1:c.403A>T NP_001394915.1:p.Lys135Ter nonsense NM_001407990.1:c.403A>T NP_001394919.1:p.Lys135Ter nonsense NM_001407991.1:c.403A>T NP_001394920.1:p.Lys135Ter nonsense NM_001407992.1:c.403A>T NP_001394921.1:p.Lys135Ter nonsense NM_001407993.1:c.403A>T NP_001394922.1:p.Lys135Ter nonsense NM_001408392.1:c.403A>T NP_001395321.1:p.Lys135Ter nonsense NM_001408396.1:c.403A>T NP_001395325.1:p.Lys135Ter nonsense NM_001408397.1:c.403A>T NP_001395326.1:p.Lys135Ter nonsense NM_001408398.1:c.403A>T NP_001395327.1:p.Lys135Ter nonsense NM_001408399.1:c.403A>T NP_001395328.1:p.Lys135Ter nonsense NM_001408400.1:c.403A>T NP_001395329.1:p.Lys135Ter nonsense NM_001408401.1:c.403A>T NP_001395330.1:p.Lys135Ter nonsense NM_001408402.1:c.403A>T NP_001395331.1:p.Lys135Ter nonsense NM_001408403.1:c.403A>T NP_001395332.1:p.Lys135Ter nonsense NM_001408404.1:c.403A>T NP_001395333.1:p.Lys135Ter nonsense NM_001408406.1:c.403A>T NP_001395335.1:p.Lys135Ter nonsense NM_001408407.1:c.403A>T NP_001395336.1:p.Lys135Ter nonsense NM_001408408.1:c.394A>T NP_001395337.1:p.Lys132Ter nonsense NM_001408409.1:c.325A>T NP_001395338.1:p.Lys109Ter nonsense NM_001408410.1:c.262A>T NP_001395339.1:p.Lys88Ter nonsense NM_001408411.1:c.325A>T NP_001395340.1:p.Lys109Ter nonsense NM_001408412.1:c.325A>T NP_001395341.1:p.Lys109Ter nonsense NM_001408413.1:c.325A>T NP_001395342.1:p.Lys109Ter nonsense NM_001408414.1:c.325A>T NP_001395343.1:p.Lys109Ter nonsense NM_001408415.1:c.325A>T NP_001395344.1:p.Lys109Ter nonsense NM_001408416.1:c.325A>T NP_001395345.1:p.Lys109Ter nonsense NM_001408418.1:c.403A>T NP_001395347.1:p.Lys135Ter nonsense NM_001408419.1:c.403A>T NP_001395348.1:p.Lys135Ter nonsense NM_001408420.1:c.403A>T NP_001395349.1:p.Lys135Ter nonsense NM_001408421.1:c.403A>T NP_001395350.1:p.Lys135Ter nonsense NM_001408422.1:c.403A>T NP_001395351.1:p.Lys135Ter nonsense NM_001408423.1:c.403A>T NP_001395352.1:p.Lys135Ter nonsense NM_001408424.1:c.403A>T NP_001395353.1:p.Lys135Ter nonsense NM_001408425.1:c.403A>T NP_001395354.1:p.Lys135Ter nonsense NM_001408426.1:c.403A>T NP_001395355.1:p.Lys135Ter nonsense NM_001408427.1:c.403A>T NP_001395356.1:p.Lys135Ter nonsense NM_001408428.1:c.403A>T NP_001395357.1:p.Lys135Ter nonsense NM_001408429.1:c.403A>T NP_001395358.1:p.Lys135Ter nonsense NM_001408430.1:c.403A>T NP_001395359.1:p.Lys135Ter nonsense NM_001408431.1:c.403A>T NP_001395360.1:p.Lys135Ter nonsense NM_001408432.1:c.403A>T NP_001395361.1:p.Lys135Ter nonsense NM_001408433.1:c.403A>T NP_001395362.1:p.Lys135Ter nonsense NM_001408434.1:c.403A>T NP_001395363.1:p.Lys135Ter nonsense NM_001408435.1:c.403A>T NP_001395364.1:p.Lys135Ter nonsense NM_001408436.1:c.403A>T NP_001395365.1:p.Lys135Ter nonsense NM_001408437.1:c.403A>T NP_001395366.1:p.Lys135Ter nonsense NM_001408438.1:c.403A>T NP_001395367.1:p.Lys135Ter nonsense NM_001408439.1:c.403A>T NP_001395368.1:p.Lys135Ter nonsense NM_001408440.1:c.403A>T NP_001395369.1:p.Lys135Ter nonsense NM_001408441.1:c.403A>T NP_001395370.1:p.Lys135Ter nonsense NM_001408442.1:c.403A>T NP_001395371.1:p.Lys135Ter nonsense NM_001408443.1:c.403A>T NP_001395372.1:p.Lys135Ter nonsense NM_001408444.1:c.403A>T NP_001395373.1:p.Lys135Ter nonsense NM_001408445.1:c.403A>T NP_001395374.1:p.Lys135Ter nonsense NM_001408446.1:c.403A>T NP_001395375.1:p.Lys135Ter nonsense NM_001408447.1:c.403A>T NP_001395376.1:p.Lys135Ter nonsense NM_001408448.1:c.403A>T NP_001395377.1:p.Lys135Ter nonsense NM_001408450.1:c.403A>T NP_001395379.1:p.Lys135Ter nonsense NM_001408451.1:c.271A>T NP_001395380.1:p.Lys91Ter nonsense NM_001408452.1:c.262A>T NP_001395381.1:p.Lys88Ter nonsense NM_001408453.1:c.262A>T NP_001395382.1:p.Lys88Ter nonsense NM_001408454.1:c.262A>T NP_001395383.1:p.Lys88Ter nonsense NM_001408455.1:c.262A>T NP_001395384.1:p.Lys88Ter nonsense NM_001408456.1:c.262A>T NP_001395385.1:p.Lys88Ter nonsense NM_001408457.1:c.262A>T NP_001395386.1:p.Lys88Ter nonsense NM_001408458.1:c.262A>T NP_001395387.1:p.Lys88Ter nonsense NM_001408459.1:c.262A>T NP_001395388.1:p.Lys88Ter nonsense NM_001408460.1:c.262A>T NP_001395389.1:p.Lys88Ter nonsense NM_001408461.1:c.262A>T NP_001395390.1:p.Lys88Ter nonsense NM_001408462.1:c.262A>T NP_001395391.1:p.Lys88Ter nonsense NM_001408463.1:c.262A>T NP_001395392.1:p.Lys88Ter nonsense NM_001408464.1:c.262A>T NP_001395393.1:p.Lys88Ter nonsense NM_001408465.1:c.262A>T NP_001395394.1:p.Lys88Ter nonsense NM_001408466.1:c.262A>T NP_001395395.1:p.Lys88Ter nonsense NM_001408467.1:c.262A>T NP_001395396.1:p.Lys88Ter nonsense NM_001408468.1:c.262A>T NP_001395397.1:p.Lys88Ter nonsense NM_001408469.1:c.262A>T NP_001395398.1:p.Lys88Ter nonsense NM_001408470.1:c.262A>T NP_001395399.1:p.Lys88Ter nonsense NM_001408472.1:c.403A>T NP_001395401.1:p.Lys135Ter nonsense NM_001408473.1:c.403A>T NP_001395402.1:p.Lys135Ter nonsense NM_001408474.1:c.325A>T NP_001395403.1:p.Lys109Ter nonsense NM_001408475.1:c.325A>T NP_001395404.1:p.Lys109Ter nonsense NM_001408476.1:c.325A>T NP_001395405.1:p.Lys109Ter nonsense NM_001408478.1:c.193A>T NP_001395407.1:p.Lys65Ter nonsense NM_001408479.1:c.193A>T NP_001395408.1:p.Lys65Ter nonsense NM_001408480.1:c.193A>T NP_001395409.1:p.Lys65Ter nonsense NM_001408481.1:c.193A>T NP_001395410.1:p.Lys65Ter nonsense NM_001408482.1:c.193A>T NP_001395411.1:p.Lys65Ter nonsense NM_001408483.1:c.193A>T NP_001395412.1:p.Lys65Ter nonsense NM_001408484.1:c.193A>T NP_001395413.1:p.Lys65Ter nonsense NM_001408485.1:c.193A>T NP_001395414.1:p.Lys65Ter nonsense NM_001408489.1:c.193A>T NP_001395418.1:p.Lys65Ter nonsense NM_001408490.1:c.193A>T NP_001395419.1:p.Lys65Ter nonsense NM_001408491.1:c.193A>T NP_001395420.1:p.Lys65Ter nonsense NM_001408492.1:c.193A>T NP_001395421.1:p.Lys65Ter nonsense NM_001408493.1:c.193A>T NP_001395422.1:p.Lys65Ter nonsense NM_001408494.1:c.403A>T NP_001395423.1:p.Lys135Ter nonsense NM_001408495.1:c.403A>T NP_001395424.1:p.Lys135Ter nonsense NM_001408496.1:c.262A>T NP_001395425.1:p.Lys88Ter nonsense NM_001408497.1:c.262A>T NP_001395426.1:p.Lys88Ter nonsense NM_001408498.1:c.262A>T NP_001395427.1:p.Lys88Ter nonsense NM_001408499.1:c.262A>T NP_001395428.1:p.Lys88Ter nonsense NM_001408500.1:c.262A>T NP_001395429.1:p.Lys88Ter nonsense NM_001408501.1:c.262A>T NP_001395430.1:p.Lys88Ter nonsense NM_001408502.1:c.193A>T NP_001395431.1:p.Lys65Ter nonsense NM_001408503.1:c.262A>T NP_001395432.1:p.Lys88Ter nonsense NM_001408504.1:c.262A>T NP_001395433.1:p.Lys88Ter nonsense NM_001408505.1:c.262A>T NP_001395434.1:p.Lys88Ter nonsense NM_001408506.1:c.193A>T NP_001395435.1:p.Lys65Ter nonsense NM_001408507.1:c.193A>T NP_001395436.1:p.Lys65Ter nonsense NM_001408508.1:c.193A>T NP_001395437.1:p.Lys65Ter nonsense NM_001408509.1:c.193A>T NP_001395438.1:p.Lys65Ter nonsense NM_001408510.1:c.22A>T NP_001395439.1:p.Lys8Ter nonsense NM_001408511.1:c.262A>T NP_001395440.1:p.Lys88Ter nonsense NM_001408512.1:c.22A>T NP_001395441.1:p.Lys8Ter nonsense NM_001408513.1:c.193A>T NP_001395442.1:p.Lys65Ter nonsense NM_001408514.1:c.193A>T NP_001395443.1:p.Lys65Ter nonsense NM_007297.4:c.262A>T NP_009228.2:p.Lys88Ter nonsense NM_007298.4:c.403A>T NP_009229.2:p.Lys135Ter nonsense NM_007299.4:c.403A>T NP_009230.2:p.Lys135Ter nonsense NM_007300.4:c.403A>T NP_009231.2:p.Lys135Ter nonsense NM_007304.2:c.403A>T NP_009235.2:p.Lys135Ter nonsense NR_027676.2:n.583A>T non-coding transcript variant NC_000017.11:g.43104160T>A NC_000017.10:g.41256177T>A NG_005905.2:g.113824A>T LRG_292:g.113824A>T LRG_292t1:c.403A>T LRG_292p1:p.Lys135Ter - Protein change
- K135X, K88*, K65*, K109*, K8*, K132*, K91*
- Other names
-
522A>T
- Canonical SPDI
- NC_000017.11:43104159:T: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.
- -
-
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 |
13156 | 14987 |
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
|
Dec 15, 2017 | RCV000239031.4 | |
Pathogenic (2) |
criteria provided, single submitter
|
Nov 8, 2023 | RCV000496796.4 | |
Pathogenic (1) |
criteria provided, single submitter
|
May 31, 2024 | RCV004609332.1 |
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
(Dec 15, 2017)
|
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)
Study: ENIGMA
Accession: SCV000783514.1 First in ClinVar: Aug 01, 2016 Last updated: Aug 01, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
Likely pathogenic
(Apr 26, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004215152.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
|
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Pathogenic
(Nov 08, 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: SCV004314293.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Lys135*) 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.Lys135*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 252876). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(May 31, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV005100591.1
First in ClinVar: Aug 11, 2024 Last updated: Aug 11, 2024 |
Comment:
The p.K135* pathogenic mutation (also known as c.403A>T), located in coding exon 5 of the BRCA1 gene, results from an A to T substitution at … (more)
The p.K135* pathogenic mutation (also known as c.403A>T), located in coding exon 5 of the BRCA1 gene, results from an A to T substitution at nucleotide position 403. This changes the amino acid from a lysine to a stop codon within coding exon 5. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
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Pathogenic
(May 10, 2010)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
|
Sharing Clinical Reports Project (SCRP)
Accession: SCV000297479.1
First in ClinVar: Aug 01, 2016 Last updated: Aug 01, 2016 |
|
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Pathogenic
(Jan 31, 2014)
|
no assertion criteria provided
Method: research
|
Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587050.1 First in ClinVar: Aug 07, 2017 Last updated: Aug 07, 2017 |
|
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 |
---|---|---|---|---|
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 rs879255485 ...
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.