ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3868A>T (p.Lys1290Ter)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.3868A>T (p.Lys1290Ter)
Variation ID: 37554 Accession: VCV000037554.15
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43091663 (GRCh38) [ NCBI UCSC ] 17: 41243680 (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 Apr 1, 2014 Sep 16, 2024 Sep 8, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.3868A>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Lys1290Ter nonsense NM_001407571.1:c.3655A>T NP_001394500.1:p.Lys1219Ter nonsense NM_001407581.1:c.3868A>T NP_001394510.1:p.Lys1290Ter nonsense NM_001407582.1:c.3868A>T NP_001394511.1:p.Lys1290Ter nonsense NM_001407583.1:c.3868A>T NP_001394512.1:p.Lys1290Ter nonsense NM_001407585.1:c.3868A>T NP_001394514.1:p.Lys1290Ter nonsense NM_001407587.1:c.3865A>T NP_001394516.1:p.Lys1289Ter nonsense NM_001407590.1:c.3865A>T NP_001394519.1:p.Lys1289Ter nonsense NM_001407591.1:c.3865A>T NP_001394520.1:p.Lys1289Ter nonsense NM_001407593.1:c.3868A>T NP_001394522.1:p.Lys1290Ter nonsense NM_001407594.1:c.3868A>T NP_001394523.1:p.Lys1290Ter nonsense NM_001407596.1:c.3868A>T NP_001394525.1:p.Lys1290Ter nonsense NM_001407597.1:c.3868A>T NP_001394526.1:p.Lys1290Ter nonsense NM_001407598.1:c.3868A>T NP_001394527.1:p.Lys1290Ter nonsense NM_001407602.1:c.3868A>T NP_001394531.1:p.Lys1290Ter nonsense NM_001407603.1:c.3868A>T NP_001394532.1:p.Lys1290Ter nonsense NM_001407605.1:c.3868A>T NP_001394534.1:p.Lys1290Ter nonsense NM_001407610.1:c.3865A>T NP_001394539.1:p.Lys1289Ter nonsense NM_001407611.1:c.3865A>T NP_001394540.1:p.Lys1289Ter nonsense NM_001407612.1:c.3865A>T NP_001394541.1:p.Lys1289Ter nonsense NM_001407613.1:c.3865A>T NP_001394542.1:p.Lys1289Ter nonsense NM_001407614.1:c.3865A>T NP_001394543.1:p.Lys1289Ter nonsense NM_001407615.1:c.3865A>T NP_001394544.1:p.Lys1289Ter nonsense NM_001407616.1:c.3868A>T NP_001394545.1:p.Lys1290Ter nonsense NM_001407617.1:c.3868A>T NP_001394546.1:p.Lys1290Ter nonsense NM_001407618.1:c.3868A>T NP_001394547.1:p.Lys1290Ter nonsense NM_001407619.1:c.3868A>T NP_001394548.1:p.Lys1290Ter nonsense NM_001407620.1:c.3868A>T NP_001394549.1:p.Lys1290Ter nonsense NM_001407621.1:c.3868A>T NP_001394550.1:p.Lys1290Ter nonsense NM_001407622.1:c.3868A>T NP_001394551.1:p.Lys1290Ter nonsense NM_001407623.1:c.3868A>T NP_001394552.1:p.Lys1290Ter nonsense NM_001407624.1:c.3868A>T NP_001394553.1:p.Lys1290Ter nonsense NM_001407625.1:c.3868A>T NP_001394554.1:p.Lys1290Ter nonsense NM_001407626.1:c.3868A>T NP_001394555.1:p.Lys1290Ter nonsense NM_001407627.1:c.3865A>T NP_001394556.1:p.Lys1289Ter nonsense NM_001407628.1:c.3865A>T NP_001394557.1:p.Lys1289Ter nonsense NM_001407629.1:c.3865A>T NP_001394558.1:p.Lys1289Ter nonsense NM_001407630.1:c.3865A>T NP_001394559.1:p.Lys1289Ter nonsense NM_001407631.1:c.3865A>T NP_001394560.1:p.Lys1289Ter nonsense NM_001407632.1:c.3865A>T NP_001394561.1:p.Lys1289Ter nonsense NM_001407633.1:c.3865A>T NP_001394562.1:p.Lys1289Ter nonsense NM_001407634.1:c.3865A>T NP_001394563.1:p.Lys1289Ter nonsense NM_001407635.1:c.3865A>T NP_001394564.1:p.Lys1289Ter nonsense NM_001407636.1:c.3865A>T NP_001394565.1:p.Lys1289Ter nonsense NM_001407637.1:c.3865A>T NP_001394566.1:p.Lys1289Ter nonsense NM_001407638.1:c.3865A>T NP_001394567.1:p.Lys1289Ter nonsense NM_001407639.1:c.3868A>T NP_001394568.1:p.Lys1290Ter nonsense NM_001407640.1:c.3868A>T NP_001394569.1:p.Lys1290Ter nonsense NM_001407641.1:c.3868A>T NP_001394570.1:p.Lys1290Ter nonsense NM_001407642.1:c.3868A>T NP_001394571.1:p.Lys1290Ter nonsense NM_001407644.1:c.3865A>T NP_001394573.1:p.Lys1289Ter nonsense NM_001407645.1:c.3865A>T NP_001394574.1:p.Lys1289Ter nonsense NM_001407646.1:c.3859A>T NP_001394575.1:p.Lys1287Ter nonsense NM_001407647.1:c.3859A>T NP_001394576.1:p.Lys1287Ter nonsense NM_001407648.1:c.3745A>T NP_001394577.1:p.Lys1249Ter nonsense NM_001407649.1:c.3742A>T NP_001394578.1:p.Lys1248Ter nonsense NM_001407652.1:c.3868A>T NP_001394581.1:p.Lys1290Ter nonsense NM_001407653.1:c.3790A>T NP_001394582.1:p.Lys1264Ter nonsense NM_001407654.1:c.3790A>T NP_001394583.1:p.Lys1264Ter nonsense NM_001407655.1:c.3790A>T NP_001394584.1:p.Lys1264Ter nonsense NM_001407656.1:c.3790A>T NP_001394585.1:p.Lys1264Ter nonsense NM_001407657.1:c.3790A>T NP_001394586.1:p.Lys1264Ter nonsense NM_001407658.1:c.3790A>T NP_001394587.1:p.Lys1264Ter nonsense NM_001407659.1:c.3787A>T NP_001394588.1:p.Lys1263Ter nonsense NM_001407660.1:c.3787A>T NP_001394589.1:p.Lys1263Ter nonsense NM_001407661.1:c.3787A>T NP_001394590.1:p.Lys1263Ter nonsense NM_001407662.1:c.3787A>T NP_001394591.1:p.Lys1263Ter nonsense NM_001407663.1:c.3790A>T NP_001394592.1:p.Lys1264Ter nonsense NM_001407664.1:c.3745A>T NP_001394593.1:p.Lys1249Ter nonsense NM_001407665.1:c.3745A>T NP_001394594.1:p.Lys1249Ter nonsense NM_001407666.1:c.3745A>T NP_001394595.1:p.Lys1249Ter nonsense NM_001407667.1:c.3745A>T NP_001394596.1:p.Lys1249Ter nonsense NM_001407668.1:c.3745A>T NP_001394597.1:p.Lys1249Ter nonsense NM_001407669.1:c.3745A>T NP_001394598.1:p.Lys1249Ter nonsense NM_001407670.1:c.3742A>T NP_001394599.1:p.Lys1248Ter nonsense NM_001407671.1:c.3742A>T NP_001394600.1:p.Lys1248Ter nonsense NM_001407672.1:c.3742A>T NP_001394601.1:p.Lys1248Ter nonsense NM_001407673.1:c.3742A>T NP_001394602.1:p.Lys1248Ter nonsense NM_001407674.1:c.3745A>T NP_001394603.1:p.Lys1249Ter nonsense NM_001407675.1:c.3745A>T NP_001394604.1:p.Lys1249Ter nonsense NM_001407676.1:c.3745A>T NP_001394605.1:p.Lys1249Ter nonsense NM_001407677.1:c.3745A>T NP_001394606.1:p.Lys1249Ter nonsense NM_001407678.1:c.3745A>T NP_001394607.1:p.Lys1249Ter nonsense NM_001407679.1:c.3745A>T NP_001394608.1:p.Lys1249Ter nonsense NM_001407680.1:c.3745A>T NP_001394609.1:p.Lys1249Ter nonsense NM_001407681.1:c.3745A>T NP_001394610.1:p.Lys1249Ter nonsense NM_001407682.1:c.3745A>T NP_001394611.1:p.Lys1249Ter nonsense NM_001407683.1:c.3745A>T NP_001394612.1:p.Lys1249Ter nonsense NM_001407684.1:c.3868A>T NP_001394613.1:p.Lys1290Ter nonsense NM_001407685.1:c.3742A>T NP_001394614.1:p.Lys1248Ter nonsense NM_001407686.1:c.3742A>T NP_001394615.1:p.Lys1248Ter nonsense NM_001407687.1:c.3742A>T NP_001394616.1:p.Lys1248Ter nonsense NM_001407688.1:c.3742A>T NP_001394617.1:p.Lys1248Ter nonsense NM_001407689.1:c.3742A>T NP_001394618.1:p.Lys1248Ter nonsense NM_001407690.1:c.3742A>T NP_001394619.1:p.Lys1248Ter nonsense NM_001407691.1:c.3742A>T NP_001394620.1:p.Lys1248Ter nonsense NM_001407692.1:c.3727A>T NP_001394621.1:p.Lys1243Ter nonsense NM_001407694.1:c.3727A>T NP_001394623.1:p.Lys1243Ter nonsense NM_001407695.1:c.3727A>T NP_001394624.1:p.Lys1243Ter nonsense NM_001407696.1:c.3727A>T NP_001394625.1:p.Lys1243Ter nonsense NM_001407697.1:c.3727A>T NP_001394626.1:p.Lys1243Ter nonsense NM_001407698.1:c.3727A>T NP_001394627.1:p.Lys1243Ter nonsense NM_001407724.1:c.3727A>T NP_001394653.1:p.Lys1243Ter nonsense NM_001407725.1:c.3727A>T NP_001394654.1:p.Lys1243Ter nonsense NM_001407726.1:c.3727A>T NP_001394655.1:p.Lys1243Ter nonsense NM_001407727.1:c.3727A>T NP_001394656.1:p.Lys1243Ter nonsense NM_001407728.1:c.3727A>T NP_001394657.1:p.Lys1243Ter nonsense NM_001407729.1:c.3727A>T NP_001394658.1:p.Lys1243Ter nonsense NM_001407730.1:c.3727A>T NP_001394659.1:p.Lys1243Ter nonsense NM_001407731.1:c.3727A>T NP_001394660.1:p.Lys1243Ter nonsense NM_001407732.1:c.3727A>T NP_001394661.1:p.Lys1243Ter nonsense NM_001407733.1:c.3727A>T NP_001394662.1:p.Lys1243Ter nonsense NM_001407734.1:c.3727A>T NP_001394663.1:p.Lys1243Ter nonsense NM_001407735.1:c.3727A>T NP_001394664.1:p.Lys1243Ter nonsense NM_001407736.1:c.3727A>T NP_001394665.1:p.Lys1243Ter nonsense NM_001407737.1:c.3727A>T NP_001394666.1:p.Lys1243Ter nonsense NM_001407738.1:c.3727A>T NP_001394667.1:p.Lys1243Ter nonsense NM_001407739.1:c.3727A>T NP_001394668.1:p.Lys1243Ter nonsense NM_001407740.1:c.3724A>T NP_001394669.1:p.Lys1242Ter nonsense NM_001407741.1:c.3724A>T NP_001394670.1:p.Lys1242Ter nonsense NM_001407742.1:c.3724A>T NP_001394671.1:p.Lys1242Ter nonsense NM_001407743.1:c.3724A>T NP_001394672.1:p.Lys1242Ter nonsense NM_001407744.1:c.3724A>T NP_001394673.1:p.Lys1242Ter nonsense NM_001407745.1:c.3724A>T NP_001394674.1:p.Lys1242Ter nonsense NM_001407746.1:c.3724A>T NP_001394675.1:p.Lys1242Ter nonsense NM_001407747.1:c.3724A>T NP_001394676.1:p.Lys1242Ter nonsense NM_001407748.1:c.3724A>T NP_001394677.1:p.Lys1242Ter nonsense NM_001407749.1:c.3724A>T NP_001394678.1:p.Lys1242Ter nonsense NM_001407750.1:c.3727A>T NP_001394679.1:p.Lys1243Ter nonsense NM_001407751.1:c.3727A>T NP_001394680.1:p.Lys1243Ter nonsense NM_001407752.1:c.3727A>T NP_001394681.1:p.Lys1243Ter nonsense NM_001407838.1:c.3724A>T NP_001394767.1:p.Lys1242Ter nonsense NM_001407839.1:c.3724A>T NP_001394768.1:p.Lys1242Ter nonsense NM_001407841.1:c.3724A>T NP_001394770.1:p.Lys1242Ter nonsense NM_001407842.1:c.3724A>T NP_001394771.1:p.Lys1242Ter nonsense NM_001407843.1:c.3724A>T NP_001394772.1:p.Lys1242Ter nonsense NM_001407844.1:c.3724A>T NP_001394773.1:p.Lys1242Ter nonsense NM_001407845.1:c.3724A>T NP_001394774.1:p.Lys1242Ter nonsense NM_001407846.1:c.3724A>T NP_001394775.1:p.Lys1242Ter nonsense NM_001407847.1:c.3724A>T NP_001394776.1:p.Lys1242Ter nonsense NM_001407848.1:c.3724A>T NP_001394777.1:p.Lys1242Ter nonsense NM_001407849.1:c.3724A>T NP_001394778.1:p.Lys1242Ter nonsense NM_001407850.1:c.3727A>T NP_001394779.1:p.Lys1243Ter nonsense NM_001407851.1:c.3727A>T NP_001394780.1:p.Lys1243Ter nonsense NM_001407852.1:c.3727A>T NP_001394781.1:p.Lys1243Ter nonsense NM_001407853.1:c.3655A>T NP_001394782.1:p.Lys1219Ter nonsense NM_001407854.1:c.3868A>T NP_001394783.1:p.Lys1290Ter nonsense NM_001407858.1:c.3868A>T NP_001394787.1:p.Lys1290Ter nonsense NM_001407859.1:c.3868A>T NP_001394788.1:p.Lys1290Ter nonsense NM_001407860.1:c.3865A>T NP_001394789.1:p.Lys1289Ter nonsense NM_001407861.1:c.3865A>T NP_001394790.1:p.Lys1289Ter nonsense NM_001407862.1:c.3667A>T NP_001394791.1:p.Lys1223Ter nonsense NM_001407863.1:c.3745A>T NP_001394792.1:p.Lys1249Ter nonsense NM_001407874.1:c.3664A>T NP_001394803.1:p.Lys1222Ter nonsense NM_001407875.1:c.3664A>T NP_001394804.1:p.Lys1222Ter nonsense NM_001407879.1:c.3658A>T NP_001394808.1:p.Lys1220Ter nonsense NM_001407881.1:c.3658A>T NP_001394810.1:p.Lys1220Ter nonsense NM_001407882.1:c.3658A>T NP_001394811.1:p.Lys1220Ter nonsense NM_001407884.1:c.3658A>T NP_001394813.1:p.Lys1220Ter nonsense NM_001407885.1:c.3658A>T NP_001394814.1:p.Lys1220Ter nonsense NM_001407886.1:c.3658A>T NP_001394815.1:p.Lys1220Ter nonsense NM_001407887.1:c.3658A>T NP_001394816.1:p.Lys1220Ter nonsense NM_001407889.1:c.3658A>T NP_001394818.1:p.Lys1220Ter nonsense NM_001407894.1:c.3655A>T NP_001394823.1:p.Lys1219Ter nonsense NM_001407895.1:c.3655A>T NP_001394824.1:p.Lys1219Ter nonsense NM_001407896.1:c.3655A>T NP_001394825.1:p.Lys1219Ter nonsense NM_001407897.1:c.3655A>T NP_001394826.1:p.Lys1219Ter nonsense NM_001407898.1:c.3655A>T NP_001394827.1:p.Lys1219Ter nonsense NM_001407899.1:c.3655A>T NP_001394828.1:p.Lys1219Ter nonsense NM_001407900.1:c.3658A>T NP_001394829.1:p.Lys1220Ter nonsense NM_001407902.1:c.3658A>T NP_001394831.1:p.Lys1220Ter nonsense NM_001407904.1:c.3658A>T NP_001394833.1:p.Lys1220Ter nonsense NM_001407906.1:c.3658A>T NP_001394835.1:p.Lys1220Ter nonsense NM_001407907.1:c.3658A>T NP_001394836.1:p.Lys1220Ter nonsense NM_001407908.1:c.3658A>T NP_001394837.1:p.Lys1220Ter nonsense NM_001407909.1:c.3658A>T NP_001394838.1:p.Lys1220Ter nonsense NM_001407910.1:c.3658A>T NP_001394839.1:p.Lys1220Ter nonsense NM_001407915.1:c.3655A>T NP_001394844.1:p.Lys1219Ter nonsense NM_001407916.1:c.3655A>T NP_001394845.1:p.Lys1219Ter nonsense NM_001407917.1:c.3655A>T NP_001394846.1:p.Lys1219Ter nonsense NM_001407918.1:c.3655A>T NP_001394847.1:p.Lys1219Ter nonsense NM_001407919.1:c.3745A>T NP_001394848.1:p.Lys1249Ter nonsense NM_001407920.1:c.3604A>T NP_001394849.1:p.Lys1202Ter nonsense NM_001407921.1:c.3604A>T NP_001394850.1:p.Lys1202Ter nonsense NM_001407922.1:c.3604A>T NP_001394851.1:p.Lys1202Ter nonsense NM_001407923.1:c.3604A>T NP_001394852.1:p.Lys1202Ter nonsense NM_001407924.1:c.3604A>T NP_001394853.1:p.Lys1202Ter nonsense NM_001407925.1:c.3604A>T NP_001394854.1:p.Lys1202Ter nonsense NM_001407926.1:c.3604A>T NP_001394855.1:p.Lys1202Ter nonsense NM_001407927.1:c.3604A>T NP_001394856.1:p.Lys1202Ter nonsense NM_001407928.1:c.3604A>T NP_001394857.1:p.Lys1202Ter nonsense NM_001407929.1:c.3604A>T NP_001394858.1:p.Lys1202Ter nonsense NM_001407930.1:c.3601A>T NP_001394859.1:p.Lys1201Ter nonsense NM_001407931.1:c.3601A>T NP_001394860.1:p.Lys1201Ter nonsense NM_001407932.1:c.3601A>T NP_001394861.1:p.Lys1201Ter nonsense NM_001407933.1:c.3604A>T NP_001394862.1:p.Lys1202Ter nonsense NM_001407934.1:c.3601A>T NP_001394863.1:p.Lys1201Ter nonsense NM_001407935.1:c.3604A>T NP_001394864.1:p.Lys1202Ter nonsense NM_001407936.1:c.3601A>T NP_001394865.1:p.Lys1201Ter nonsense NM_001407937.1:c.3745A>T NP_001394866.1:p.Lys1249Ter nonsense NM_001407938.1:c.3745A>T NP_001394867.1:p.Lys1249Ter nonsense NM_001407939.1:c.3745A>T NP_001394868.1:p.Lys1249Ter nonsense NM_001407940.1:c.3742A>T NP_001394869.1:p.Lys1248Ter nonsense NM_001407941.1:c.3742A>T NP_001394870.1:p.Lys1248Ter nonsense NM_001407942.1:c.3727A>T NP_001394871.1:p.Lys1243Ter nonsense NM_001407943.1:c.3724A>T NP_001394872.1:p.Lys1242Ter nonsense NM_001407944.1:c.3727A>T NP_001394873.1:p.Lys1243Ter nonsense NM_001407945.1:c.3727A>T NP_001394874.1:p.Lys1243Ter nonsense NM_001407946.1:c.3535A>T NP_001394875.1:p.Lys1179Ter nonsense NM_001407947.1:c.3535A>T NP_001394876.1:p.Lys1179Ter nonsense NM_001407948.1:c.3535A>T NP_001394877.1:p.Lys1179Ter nonsense NM_001407949.1:c.3535A>T NP_001394878.1:p.Lys1179Ter nonsense NM_001407950.1:c.3535A>T NP_001394879.1:p.Lys1179Ter nonsense NM_001407951.1:c.3535A>T NP_001394880.1:p.Lys1179Ter nonsense NM_001407952.1:c.3535A>T NP_001394881.1:p.Lys1179Ter nonsense NM_001407953.1:c.3535A>T NP_001394882.1:p.Lys1179Ter nonsense NM_001407954.1:c.3532A>T NP_001394883.1:p.Lys1178Ter nonsense NM_001407955.1:c.3532A>T NP_001394884.1:p.Lys1178Ter nonsense NM_001407956.1:c.3532A>T NP_001394885.1:p.Lys1178Ter nonsense NM_001407957.1:c.3535A>T NP_001394886.1:p.Lys1179Ter nonsense NM_001407958.1:c.3532A>T NP_001394887.1:p.Lys1178Ter nonsense NM_001407959.1:c.3487A>T NP_001394888.1:p.Lys1163Ter nonsense NM_001407960.1:c.3487A>T NP_001394889.1:p.Lys1163Ter nonsense NM_001407962.1:c.3484A>T NP_001394891.1:p.Lys1162Ter nonsense NM_001407963.1:c.3487A>T NP_001394892.1:p.Lys1163Ter nonsense NM_001407964.1:c.3724A>T NP_001394893.1:p.Lys1242Ter nonsense NM_001407965.1:c.3364A>T NP_001394894.1:p.Lys1122Ter nonsense NM_001407966.1:c.2980A>T NP_001394895.1:p.Lys994Ter nonsense NM_001407967.1:c.2980A>T NP_001394896.1:p.Lys994Ter nonsense NM_001407968.1:c.1264A>T NP_001394897.1:p.Lys422Ter nonsense NM_001407969.1:c.1264A>T NP_001394898.1:p.Lys422Ter nonsense NM_001407970.1:c.788-631A>T intron variant NM_001407971.1:c.788-631A>T intron variant NM_001407972.1:c.785-631A>T intron variant NM_001407973.1:c.788-631A>T intron variant NM_001407974.1:c.788-631A>T intron variant NM_001407975.1:c.788-631A>T intron variant NM_001407976.1:c.788-631A>T intron variant NM_001407977.1:c.788-631A>T intron variant NM_001407978.1:c.788-631A>T intron variant NM_001407979.1:c.788-631A>T intron variant NM_001407980.1:c.788-631A>T intron variant NM_001407981.1:c.788-631A>T intron variant NM_001407982.1:c.788-631A>T intron variant NM_001407983.1:c.788-631A>T intron variant NM_001407984.1:c.785-631A>T intron variant NM_001407985.1:c.785-631A>T intron variant NM_001407986.1:c.785-631A>T intron variant NM_001407990.1:c.788-631A>T intron variant NM_001407991.1:c.785-631A>T intron variant NM_001407992.1:c.785-631A>T intron variant NM_001407993.1:c.788-631A>T intron variant NM_001408392.1:c.785-631A>T intron variant NM_001408396.1:c.785-631A>T intron variant NM_001408397.1:c.785-631A>T intron variant NM_001408398.1:c.785-631A>T intron variant NM_001408399.1:c.785-631A>T intron variant NM_001408400.1:c.785-631A>T intron variant NM_001408401.1:c.785-631A>T intron variant NM_001408402.1:c.785-631A>T intron variant NM_001408403.1:c.788-631A>T intron variant NM_001408404.1:c.788-631A>T intron variant NM_001408406.1:c.791-640A>T intron variant NM_001408407.1:c.785-631A>T intron variant NM_001408408.1:c.779-631A>T intron variant NM_001408409.1:c.710-631A>T intron variant NM_001408410.1:c.647-631A>T intron variant NM_001408411.1:c.710-631A>T intron variant NM_001408412.1:c.710-631A>T intron variant NM_001408413.1:c.707-631A>T intron variant NM_001408414.1:c.710-631A>T intron variant NM_001408415.1:c.710-631A>T intron variant NM_001408416.1:c.707-631A>T intron variant NM_001408418.1:c.671-631A>T intron variant NM_001408419.1:c.671-631A>T intron variant NM_001408420.1:c.671-631A>T intron variant NM_001408421.1:c.668-631A>T intron variant NM_001408422.1:c.671-631A>T intron variant NM_001408423.1:c.671-631A>T intron variant NM_001408424.1:c.668-631A>T intron variant NM_001408425.1:c.665-631A>T intron variant NM_001408426.1:c.665-631A>T intron variant NM_001408427.1:c.665-631A>T intron variant NM_001408428.1:c.665-631A>T intron variant NM_001408429.1:c.665-631A>T intron variant NM_001408430.1:c.665-631A>T intron variant NM_001408431.1:c.668-631A>T intron variant NM_001408432.1:c.662-631A>T intron variant NM_001408433.1:c.662-631A>T intron variant NM_001408434.1:c.662-631A>T intron variant NM_001408435.1:c.662-631A>T intron variant NM_001408436.1:c.665-631A>T intron variant NM_001408437.1:c.665-631A>T intron variant NM_001408438.1:c.665-631A>T intron variant NM_001408439.1:c.665-631A>T intron variant NM_001408440.1:c.665-631A>T intron variant NM_001408441.1:c.665-631A>T intron variant NM_001408442.1:c.665-631A>T intron variant NM_001408443.1:c.665-631A>T intron variant NM_001408444.1:c.665-631A>T intron variant NM_001408445.1:c.662-631A>T intron variant NM_001408446.1:c.662-631A>T intron variant NM_001408447.1:c.662-631A>T intron variant NM_001408448.1:c.662-631A>T intron variant NM_001408450.1:c.662-631A>T intron variant NM_001408451.1:c.653-631A>T intron variant NM_001408452.1:c.647-631A>T intron variant NM_001408453.1:c.647-631A>T intron variant NM_001408454.1:c.647-631A>T intron variant NM_001408455.1:c.647-631A>T intron variant NM_001408456.1:c.647-631A>T intron variant NM_001408457.1:c.647-631A>T intron variant NM_001408458.1:c.647-631A>T intron variant NM_001408459.1:c.647-631A>T intron variant NM_001408460.1:c.647-631A>T intron variant NM_001408461.1:c.647-631A>T intron variant NM_001408462.1:c.644-631A>T intron variant NM_001408463.1:c.644-631A>T intron variant NM_001408464.1:c.644-631A>T intron variant NM_001408465.1:c.644-631A>T intron variant NM_001408466.1:c.647-631A>T intron variant NM_001408467.1:c.647-631A>T intron variant NM_001408468.1:c.644-631A>T intron variant NM_001408469.1:c.647-631A>T intron variant NM_001408470.1:c.644-631A>T intron variant NM_001408472.1:c.788-631A>T intron variant NM_001408473.1:c.785-631A>T intron variant NM_001408474.1:c.587-631A>T intron variant NM_001408475.1:c.584-631A>T intron variant NM_001408476.1:c.587-631A>T intron variant NM_001408478.1:c.578-631A>T intron variant NM_001408479.1:c.578-631A>T intron variant NM_001408480.1:c.578-631A>T intron variant NM_001408481.1:c.578-631A>T intron variant NM_001408482.1:c.578-631A>T intron variant NM_001408483.1:c.578-631A>T intron variant NM_001408484.1:c.578-631A>T intron variant NM_001408485.1:c.578-631A>T intron variant NM_001408489.1:c.578-631A>T intron variant NM_001408490.1:c.575-631A>T intron variant NM_001408491.1:c.575-631A>T intron variant NM_001408492.1:c.578-631A>T intron variant NM_001408493.1:c.575-631A>T intron variant NM_001408494.1:c.548-631A>T intron variant NM_001408495.1:c.545-631A>T intron variant NM_001408496.1:c.524-631A>T intron variant NM_001408497.1:c.524-631A>T intron variant NM_001408498.1:c.524-631A>T intron variant NM_001408499.1:c.524-631A>T intron variant NM_001408500.1:c.524-631A>T intron variant NM_001408501.1:c.524-631A>T intron variant NM_001408502.1:c.455-631A>T intron variant NM_001408503.1:c.521-631A>T intron variant NM_001408504.1:c.521-631A>T intron variant NM_001408505.1:c.521-631A>T intron variant NM_001408506.1:c.461-631A>T intron variant NM_001408507.1:c.461-631A>T intron variant NM_001408508.1:c.452-631A>T intron variant NM_001408509.1:c.452-631A>T intron variant NM_001408510.1:c.407-631A>T intron variant NM_001408511.1:c.404-631A>T intron variant NM_001408512.1:c.284-631A>T intron variant NM_001408513.1:c.578-631A>T intron variant NM_001408514.1:c.578-631A>T intron variant NM_007297.4:c.3727A>T NP_009228.2:p.Lys1243Ter nonsense NM_007298.4:c.788-631A>T intron variant NM_007299.4:c.788-631A>T intron variant NM_007300.4:c.3868A>T NP_009231.2:p.Lys1290Ter nonsense NR_027676.1:n.4004A>T NC_000017.11:g.43091663T>A NC_000017.10:g.41243680T>A NG_005905.2:g.126321A>T NG_087068.1:g.645T>A LRG_292:g.126321A>T LRG_292t1:c.3868A>T LRG_292p1:p.Lys1290Ter U14680.1:n.3987A>T - Protein change
- K1290*, K1243*, K1122*, K1178*, K1201*, K1222*, K1223*, K1242*, K1287*, K994*, K1162*, K1163*, K1219*, K1248*, K1263*, K1264*, K422*, K1179*, K1202*, K1220*, K1249*, K1289*
- Other names
- 3987A>T
- Canonical SPDI
- NC_000017.11:43091662: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.
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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 |
13037 | 14843 | |
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 (5) |
reviewed by expert panel
|
Sep 8, 2016 | RCV000031135.17 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
|
Nov 8, 2022 | RCV000048361.18 | |
Pathogenic (1) |
no assertion criteria provided
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Jun 11, 2019 | RCV001271016.9 | |
Pathogenic (1) |
criteria provided, single submitter
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Sep 1, 2022 | RCV002354175.9 | |
Pathogenic (1) |
criteria provided, single submitter
|
Aug 30, 2023 | RCV004700290.1 |
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
(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: SCV000300033.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
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Pathogenic
(May 12, 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: SCV004215132.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Pathogenic
(Nov 08, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000076374.7
First in ClinVar: Jul 03, 2013 Last updated: Feb 28, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 37554). This premature translational stop signal … (more)
For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 37554). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 12491487, 25428789). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys1290*) 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). (less)
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Pathogenic
(Sep 01, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV002620016.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The p.K1290* pathogenic mutation (also known as c.3868A>T), located in coding exon 9 of the BRCA1 gene, results from an A to T substitution at … (more)
The p.K1290* pathogenic mutation (also known as c.3868A>T), located in coding exon 9 of the BRCA1 gene, results from an A to T substitution at nucleotide position 3868. This changes the amino acid from a lysine to a stop codon within coding exon 9. This mutation has been identified in an African American woman diagnosed with early-onset breast cancer (Churpek JE et al, Breast Cancer Res. Treat. 2015 Jan; 149(1):31-9). In addition to the clinical data presented in the literature, 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
(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: SCV000325775.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(Aug 01, 2019)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast and ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000699078.2
First in ClinVar: Dec 26, 2017 Last updated: Nov 08, 2019 |
Comment:
Variant summary: BRCA1 c.3868A>T (p.Lys1290X) 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.3868A>T (p.Lys1290X) 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 (c.3893C>A, p.Ser1298X; c.3937C>T, p.Gln1313X; c.4015G>T, p.Glu1339X). The variant was absent in 251164 control chromosomes (gnomAD). The variant, c.3868A>T, has been reported in the literature in individuals affected with breast cancer and/or ovarian cancer (Judkins_2005, Olopade_2003, Churpek_2015, Mgbemena_2017, Rebbeck_2018). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three ClinVar submissions including one expert panel (ENIGMA) (evaluation after 2014) classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Aug 30, 2023)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV005201804.1
First in ClinVar: Sep 16, 2024 Last updated: Sep 16, 2024 |
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of … (more)
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Not observed at significant frequency in large population cohorts (gnomAD); Also known as 3987A>T; This variant is associated with the following publications: (PMID: 29446198, 28122244, 25428789, 12491487, 20104584, 16267036) (less)
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Pathogenic
(Mar 17, 2011)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
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Sharing Clinical Reports Project (SCRP)
Accession: SCV000053734.4
First in ClinVar: Apr 04, 2013 Last updated: Sep 27, 2014 |
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Pathogenic
(Jun 11, 2019)
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no assertion criteria provided
Method: clinical testing
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Breast and/or ovarian cancer
Affected status: yes
Allele origin:
germline
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CZECANCA consortium
Accession: SCV001451829.1
First in ClinVar: Dec 24, 2020 Last updated: Dec 24, 2020 |
Number of individuals with the variant: 1
Ethnicity/Population group: Slavic
Geographic origin: Czech Republic
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
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Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144905.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 1
Observation 2:
Number of individuals with the variant: 1
Geographic origin: Western European, African American
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Pathogenic
(Jan 31, 2014)
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no assertion criteria provided
Method: research
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Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
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Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587353.1 First in ClinVar: Aug 05, 2017 Last updated: Aug 05, 2017 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
Distinct Brca1 Mutations Differentially Reduce Hematopoietic Stem Cell Function. | Mgbemena VE | Cell reports | 2017 | PMID: 28122244 |
Inherited predisposition to breast cancer among African American women. | Churpek JE | Breast cancer research and treatment | 2015 | PMID: 25428789 |
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 |
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. | Judkins T | Cancer research | 2005 | PMID: 16267036 |
Breast cancer genetics in African Americans. | Olopade OI | Cancer | 2003 | PMID: 12491487 |
The breast cancer information core: database design, structure, and scope. | Szabo C | Human mutation | 2000 | PMID: 10923033 |
Text-mined citations for rs80357254 ...
HelpRecord last updated Oct 13, 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.