ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3286C>T (p.Gln1096Ter)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.3286C>T (p.Gln1096Ter)
Variation ID: 54818 Accession: VCV000054818.22
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43092245 (GRCh38) [ NCBI UCSC ] 17: 41244262 (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 May 1, 2024 Sep 8, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.3286C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gln1096Ter nonsense NM_001407571.1:c.3073C>T NP_001394500.1:p.Gln1025Ter nonsense NM_001407581.1:c.3286C>T NP_001394510.1:p.Gln1096Ter nonsense NM_001407582.1:c.3286C>T NP_001394511.1:p.Gln1096Ter nonsense NM_001407583.1:c.3286C>T NP_001394512.1:p.Gln1096Ter nonsense NM_001407585.1:c.3286C>T NP_001394514.1:p.Gln1096Ter nonsense NM_001407587.1:c.3283C>T NP_001394516.1:p.Gln1095Ter nonsense NM_001407590.1:c.3283C>T NP_001394519.1:p.Gln1095Ter nonsense NM_001407591.1:c.3283C>T NP_001394520.1:p.Gln1095Ter nonsense NM_001407593.1:c.3286C>T NP_001394522.1:p.Gln1096Ter nonsense NM_001407594.1:c.3286C>T NP_001394523.1:p.Gln1096Ter nonsense NM_001407596.1:c.3286C>T NP_001394525.1:p.Gln1096Ter nonsense NM_001407597.1:c.3286C>T NP_001394526.1:p.Gln1096Ter nonsense NM_001407598.1:c.3286C>T NP_001394527.1:p.Gln1096Ter nonsense NM_001407602.1:c.3286C>T NP_001394531.1:p.Gln1096Ter nonsense NM_001407603.1:c.3286C>T NP_001394532.1:p.Gln1096Ter nonsense NM_001407605.1:c.3286C>T NP_001394534.1:p.Gln1096Ter nonsense NM_001407610.1:c.3283C>T NP_001394539.1:p.Gln1095Ter nonsense NM_001407611.1:c.3283C>T NP_001394540.1:p.Gln1095Ter nonsense NM_001407612.1:c.3283C>T NP_001394541.1:p.Gln1095Ter nonsense NM_001407613.1:c.3283C>T NP_001394542.1:p.Gln1095Ter nonsense NM_001407614.1:c.3283C>T NP_001394543.1:p.Gln1095Ter nonsense NM_001407615.1:c.3283C>T NP_001394544.1:p.Gln1095Ter nonsense NM_001407616.1:c.3286C>T NP_001394545.1:p.Gln1096Ter nonsense NM_001407617.1:c.3286C>T NP_001394546.1:p.Gln1096Ter nonsense NM_001407618.1:c.3286C>T NP_001394547.1:p.Gln1096Ter nonsense NM_001407619.1:c.3286C>T NP_001394548.1:p.Gln1096Ter nonsense NM_001407620.1:c.3286C>T NP_001394549.1:p.Gln1096Ter nonsense NM_001407621.1:c.3286C>T NP_001394550.1:p.Gln1096Ter nonsense NM_001407622.1:c.3286C>T NP_001394551.1:p.Gln1096Ter nonsense NM_001407623.1:c.3286C>T NP_001394552.1:p.Gln1096Ter nonsense NM_001407624.1:c.3286C>T NP_001394553.1:p.Gln1096Ter nonsense NM_001407625.1:c.3286C>T NP_001394554.1:p.Gln1096Ter nonsense NM_001407626.1:c.3286C>T NP_001394555.1:p.Gln1096Ter nonsense NM_001407627.1:c.3283C>T NP_001394556.1:p.Gln1095Ter nonsense NM_001407628.1:c.3283C>T NP_001394557.1:p.Gln1095Ter nonsense NM_001407629.1:c.3283C>T NP_001394558.1:p.Gln1095Ter nonsense NM_001407630.1:c.3283C>T NP_001394559.1:p.Gln1095Ter nonsense NM_001407631.1:c.3283C>T NP_001394560.1:p.Gln1095Ter nonsense NM_001407632.1:c.3283C>T NP_001394561.1:p.Gln1095Ter nonsense NM_001407633.1:c.3283C>T NP_001394562.1:p.Gln1095Ter nonsense NM_001407634.1:c.3283C>T NP_001394563.1:p.Gln1095Ter nonsense NM_001407635.1:c.3283C>T NP_001394564.1:p.Gln1095Ter nonsense NM_001407636.1:c.3283C>T NP_001394565.1:p.Gln1095Ter nonsense NM_001407637.1:c.3283C>T NP_001394566.1:p.Gln1095Ter nonsense NM_001407638.1:c.3283C>T NP_001394567.1:p.Gln1095Ter nonsense NM_001407639.1:c.3286C>T NP_001394568.1:p.Gln1096Ter nonsense NM_001407640.1:c.3286C>T NP_001394569.1:p.Gln1096Ter nonsense NM_001407641.1:c.3286C>T NP_001394570.1:p.Gln1096Ter nonsense NM_001407642.1:c.3286C>T NP_001394571.1:p.Gln1096Ter nonsense NM_001407644.1:c.3283C>T NP_001394573.1:p.Gln1095Ter nonsense NM_001407645.1:c.3283C>T NP_001394574.1:p.Gln1095Ter nonsense NM_001407646.1:c.3277C>T NP_001394575.1:p.Gln1093Ter nonsense NM_001407647.1:c.3277C>T NP_001394576.1:p.Gln1093Ter nonsense NM_001407648.1:c.3163C>T NP_001394577.1:p.Gln1055Ter nonsense NM_001407649.1:c.3160C>T NP_001394578.1:p.Gln1054Ter nonsense NM_001407652.1:c.3286C>T NP_001394581.1:p.Gln1096Ter nonsense NM_001407653.1:c.3208C>T NP_001394582.1:p.Gln1070Ter nonsense NM_001407654.1:c.3208C>T NP_001394583.1:p.Gln1070Ter nonsense NM_001407655.1:c.3208C>T NP_001394584.1:p.Gln1070Ter nonsense NM_001407656.1:c.3208C>T NP_001394585.1:p.Gln1070Ter nonsense NM_001407657.1:c.3208C>T NP_001394586.1:p.Gln1070Ter nonsense NM_001407658.1:c.3208C>T NP_001394587.1:p.Gln1070Ter nonsense NM_001407659.1:c.3205C>T NP_001394588.1:p.Gln1069Ter nonsense NM_001407660.1:c.3205C>T NP_001394589.1:p.Gln1069Ter nonsense NM_001407661.1:c.3205C>T NP_001394590.1:p.Gln1069Ter nonsense NM_001407662.1:c.3205C>T NP_001394591.1:p.Gln1069Ter nonsense NM_001407663.1:c.3208C>T NP_001394592.1:p.Gln1070Ter nonsense NM_001407664.1:c.3163C>T NP_001394593.1:p.Gln1055Ter nonsense NM_001407665.1:c.3163C>T NP_001394594.1:p.Gln1055Ter nonsense NM_001407666.1:c.3163C>T NP_001394595.1:p.Gln1055Ter nonsense NM_001407667.1:c.3163C>T NP_001394596.1:p.Gln1055Ter nonsense NM_001407668.1:c.3163C>T NP_001394597.1:p.Gln1055Ter nonsense NM_001407669.1:c.3163C>T NP_001394598.1:p.Gln1055Ter nonsense NM_001407670.1:c.3160C>T NP_001394599.1:p.Gln1054Ter nonsense NM_001407671.1:c.3160C>T NP_001394600.1:p.Gln1054Ter nonsense NM_001407672.1:c.3160C>T NP_001394601.1:p.Gln1054Ter nonsense NM_001407673.1:c.3160C>T NP_001394602.1:p.Gln1054Ter nonsense NM_001407674.1:c.3163C>T NP_001394603.1:p.Gln1055Ter nonsense NM_001407675.1:c.3163C>T NP_001394604.1:p.Gln1055Ter nonsense NM_001407676.1:c.3163C>T NP_001394605.1:p.Gln1055Ter nonsense NM_001407677.1:c.3163C>T NP_001394606.1:p.Gln1055Ter nonsense NM_001407678.1:c.3163C>T NP_001394607.1:p.Gln1055Ter nonsense NM_001407679.1:c.3163C>T NP_001394608.1:p.Gln1055Ter nonsense NM_001407680.1:c.3163C>T NP_001394609.1:p.Gln1055Ter nonsense NM_001407681.1:c.3163C>T NP_001394610.1:p.Gln1055Ter nonsense NM_001407682.1:c.3163C>T NP_001394611.1:p.Gln1055Ter nonsense NM_001407683.1:c.3163C>T NP_001394612.1:p.Gln1055Ter nonsense NM_001407684.1:c.3286C>T NP_001394613.1:p.Gln1096Ter nonsense NM_001407685.1:c.3160C>T NP_001394614.1:p.Gln1054Ter nonsense NM_001407686.1:c.3160C>T NP_001394615.1:p.Gln1054Ter nonsense NM_001407687.1:c.3160C>T NP_001394616.1:p.Gln1054Ter nonsense NM_001407688.1:c.3160C>T NP_001394617.1:p.Gln1054Ter nonsense NM_001407689.1:c.3160C>T NP_001394618.1:p.Gln1054Ter nonsense NM_001407690.1:c.3160C>T NP_001394619.1:p.Gln1054Ter nonsense NM_001407691.1:c.3160C>T NP_001394620.1:p.Gln1054Ter nonsense NM_001407692.1:c.3145C>T NP_001394621.1:p.Gln1049Ter nonsense NM_001407694.1:c.3145C>T NP_001394623.1:p.Gln1049Ter nonsense NM_001407695.1:c.3145C>T NP_001394624.1:p.Gln1049Ter nonsense NM_001407696.1:c.3145C>T NP_001394625.1:p.Gln1049Ter nonsense NM_001407697.1:c.3145C>T NP_001394626.1:p.Gln1049Ter nonsense NM_001407698.1:c.3145C>T NP_001394627.1:p.Gln1049Ter nonsense NM_001407724.1:c.3145C>T NP_001394653.1:p.Gln1049Ter nonsense NM_001407725.1:c.3145C>T NP_001394654.1:p.Gln1049Ter nonsense NM_001407726.1:c.3145C>T NP_001394655.1:p.Gln1049Ter nonsense NM_001407727.1:c.3145C>T NP_001394656.1:p.Gln1049Ter nonsense NM_001407728.1:c.3145C>T NP_001394657.1:p.Gln1049Ter nonsense NM_001407729.1:c.3145C>T NP_001394658.1:p.Gln1049Ter nonsense NM_001407730.1:c.3145C>T NP_001394659.1:p.Gln1049Ter nonsense NM_001407731.1:c.3145C>T NP_001394660.1:p.Gln1049Ter nonsense NM_001407732.1:c.3145C>T NP_001394661.1:p.Gln1049Ter nonsense NM_001407733.1:c.3145C>T NP_001394662.1:p.Gln1049Ter nonsense NM_001407734.1:c.3145C>T NP_001394663.1:p.Gln1049Ter nonsense NM_001407735.1:c.3145C>T NP_001394664.1:p.Gln1049Ter nonsense NM_001407736.1:c.3145C>T NP_001394665.1:p.Gln1049Ter nonsense NM_001407737.1:c.3145C>T NP_001394666.1:p.Gln1049Ter nonsense NM_001407738.1:c.3145C>T NP_001394667.1:p.Gln1049Ter nonsense NM_001407739.1:c.3145C>T NP_001394668.1:p.Gln1049Ter nonsense NM_001407740.1:c.3142C>T NP_001394669.1:p.Gln1048Ter nonsense NM_001407741.1:c.3142C>T NP_001394670.1:p.Gln1048Ter nonsense NM_001407742.1:c.3142C>T NP_001394671.1:p.Gln1048Ter nonsense NM_001407743.1:c.3142C>T NP_001394672.1:p.Gln1048Ter nonsense NM_001407744.1:c.3142C>T NP_001394673.1:p.Gln1048Ter nonsense NM_001407745.1:c.3142C>T NP_001394674.1:p.Gln1048Ter nonsense NM_001407746.1:c.3142C>T NP_001394675.1:p.Gln1048Ter nonsense NM_001407747.1:c.3142C>T NP_001394676.1:p.Gln1048Ter nonsense NM_001407748.1:c.3142C>T NP_001394677.1:p.Gln1048Ter nonsense NM_001407749.1:c.3142C>T NP_001394678.1:p.Gln1048Ter nonsense NM_001407750.1:c.3145C>T NP_001394679.1:p.Gln1049Ter nonsense NM_001407751.1:c.3145C>T NP_001394680.1:p.Gln1049Ter nonsense NM_001407752.1:c.3145C>T NP_001394681.1:p.Gln1049Ter nonsense NM_001407838.1:c.3142C>T NP_001394767.1:p.Gln1048Ter nonsense NM_001407839.1:c.3142C>T NP_001394768.1:p.Gln1048Ter nonsense NM_001407841.1:c.3142C>T NP_001394770.1:p.Gln1048Ter nonsense NM_001407842.1:c.3142C>T NP_001394771.1:p.Gln1048Ter nonsense NM_001407843.1:c.3142C>T NP_001394772.1:p.Gln1048Ter nonsense NM_001407844.1:c.3142C>T NP_001394773.1:p.Gln1048Ter nonsense NM_001407845.1:c.3142C>T NP_001394774.1:p.Gln1048Ter nonsense NM_001407846.1:c.3142C>T NP_001394775.1:p.Gln1048Ter nonsense NM_001407847.1:c.3142C>T NP_001394776.1:p.Gln1048Ter nonsense NM_001407848.1:c.3142C>T NP_001394777.1:p.Gln1048Ter nonsense NM_001407849.1:c.3142C>T NP_001394778.1:p.Gln1048Ter nonsense NM_001407850.1:c.3145C>T NP_001394779.1:p.Gln1049Ter nonsense NM_001407851.1:c.3145C>T NP_001394780.1:p.Gln1049Ter nonsense NM_001407852.1:c.3145C>T NP_001394781.1:p.Gln1049Ter nonsense NM_001407853.1:c.3073C>T NP_001394782.1:p.Gln1025Ter nonsense NM_001407854.1:c.3286C>T NP_001394783.1:p.Gln1096Ter nonsense NM_001407858.1:c.3286C>T NP_001394787.1:p.Gln1096Ter nonsense NM_001407859.1:c.3286C>T NP_001394788.1:p.Gln1096Ter nonsense NM_001407860.1:c.3283C>T NP_001394789.1:p.Gln1095Ter nonsense NM_001407861.1:c.3283C>T NP_001394790.1:p.Gln1095Ter nonsense NM_001407862.1:c.3085C>T NP_001394791.1:p.Gln1029Ter nonsense NM_001407863.1:c.3163C>T NP_001394792.1:p.Gln1055Ter nonsense NM_001407874.1:c.3082C>T NP_001394803.1:p.Gln1028Ter nonsense NM_001407875.1:c.3082C>T NP_001394804.1:p.Gln1028Ter nonsense NM_001407879.1:c.3076C>T NP_001394808.1:p.Gln1026Ter nonsense NM_001407881.1:c.3076C>T NP_001394810.1:p.Gln1026Ter nonsense NM_001407882.1:c.3076C>T NP_001394811.1:p.Gln1026Ter nonsense NM_001407884.1:c.3076C>T NP_001394813.1:p.Gln1026Ter nonsense NM_001407885.1:c.3076C>T NP_001394814.1:p.Gln1026Ter nonsense NM_001407886.1:c.3076C>T NP_001394815.1:p.Gln1026Ter nonsense NM_001407887.1:c.3076C>T NP_001394816.1:p.Gln1026Ter nonsense NM_001407889.1:c.3076C>T NP_001394818.1:p.Gln1026Ter nonsense NM_001407894.1:c.3073C>T NP_001394823.1:p.Gln1025Ter nonsense NM_001407895.1:c.3073C>T NP_001394824.1:p.Gln1025Ter nonsense NM_001407896.1:c.3073C>T NP_001394825.1:p.Gln1025Ter nonsense NM_001407897.1:c.3073C>T NP_001394826.1:p.Gln1025Ter nonsense NM_001407898.1:c.3073C>T NP_001394827.1:p.Gln1025Ter nonsense NM_001407899.1:c.3073C>T NP_001394828.1:p.Gln1025Ter nonsense NM_001407900.1:c.3076C>T NP_001394829.1:p.Gln1026Ter nonsense NM_001407902.1:c.3076C>T NP_001394831.1:p.Gln1026Ter nonsense NM_001407904.1:c.3076C>T NP_001394833.1:p.Gln1026Ter nonsense NM_001407906.1:c.3076C>T NP_001394835.1:p.Gln1026Ter nonsense NM_001407907.1:c.3076C>T NP_001394836.1:p.Gln1026Ter nonsense NM_001407908.1:c.3076C>T NP_001394837.1:p.Gln1026Ter nonsense NM_001407909.1:c.3076C>T NP_001394838.1:p.Gln1026Ter nonsense NM_001407910.1:c.3076C>T NP_001394839.1:p.Gln1026Ter nonsense NM_001407915.1:c.3073C>T NP_001394844.1:p.Gln1025Ter nonsense NM_001407916.1:c.3073C>T NP_001394845.1:p.Gln1025Ter nonsense NM_001407917.1:c.3073C>T NP_001394846.1:p.Gln1025Ter nonsense NM_001407918.1:c.3073C>T NP_001394847.1:p.Gln1025Ter nonsense NM_001407919.1:c.3163C>T NP_001394848.1:p.Gln1055Ter nonsense NM_001407920.1:c.3022C>T NP_001394849.1:p.Gln1008Ter nonsense NM_001407921.1:c.3022C>T NP_001394850.1:p.Gln1008Ter nonsense NM_001407922.1:c.3022C>T NP_001394851.1:p.Gln1008Ter nonsense NM_001407923.1:c.3022C>T NP_001394852.1:p.Gln1008Ter nonsense NM_001407924.1:c.3022C>T NP_001394853.1:p.Gln1008Ter nonsense NM_001407925.1:c.3022C>T NP_001394854.1:p.Gln1008Ter nonsense NM_001407926.1:c.3022C>T NP_001394855.1:p.Gln1008Ter nonsense NM_001407927.1:c.3022C>T NP_001394856.1:p.Gln1008Ter nonsense NM_001407928.1:c.3022C>T NP_001394857.1:p.Gln1008Ter nonsense NM_001407929.1:c.3022C>T NP_001394858.1:p.Gln1008Ter nonsense NM_001407930.1:c.3019C>T NP_001394859.1:p.Gln1007Ter nonsense NM_001407931.1:c.3019C>T NP_001394860.1:p.Gln1007Ter nonsense NM_001407932.1:c.3019C>T NP_001394861.1:p.Gln1007Ter nonsense NM_001407933.1:c.3022C>T NP_001394862.1:p.Gln1008Ter nonsense NM_001407934.1:c.3019C>T NP_001394863.1:p.Gln1007Ter nonsense NM_001407935.1:c.3022C>T NP_001394864.1:p.Gln1008Ter nonsense NM_001407936.1:c.3019C>T NP_001394865.1:p.Gln1007Ter nonsense NM_001407937.1:c.3163C>T NP_001394866.1:p.Gln1055Ter nonsense NM_001407938.1:c.3163C>T NP_001394867.1:p.Gln1055Ter nonsense NM_001407939.1:c.3163C>T NP_001394868.1:p.Gln1055Ter nonsense NM_001407940.1:c.3160C>T NP_001394869.1:p.Gln1054Ter nonsense NM_001407941.1:c.3160C>T NP_001394870.1:p.Gln1054Ter nonsense NM_001407942.1:c.3145C>T NP_001394871.1:p.Gln1049Ter nonsense NM_001407943.1:c.3142C>T NP_001394872.1:p.Gln1048Ter nonsense NM_001407944.1:c.3145C>T NP_001394873.1:p.Gln1049Ter nonsense NM_001407945.1:c.3145C>T NP_001394874.1:p.Gln1049Ter nonsense NM_001407946.1:c.2953C>T NP_001394875.1:p.Gln985Ter nonsense NM_001407947.1:c.2953C>T NP_001394876.1:p.Gln985Ter nonsense NM_001407948.1:c.2953C>T NP_001394877.1:p.Gln985Ter nonsense NM_001407949.1:c.2953C>T NP_001394878.1:p.Gln985Ter nonsense NM_001407950.1:c.2953C>T NP_001394879.1:p.Gln985Ter nonsense NM_001407951.1:c.2953C>T NP_001394880.1:p.Gln985Ter nonsense NM_001407952.1:c.2953C>T NP_001394881.1:p.Gln985Ter nonsense NM_001407953.1:c.2953C>T NP_001394882.1:p.Gln985Ter nonsense NM_001407954.1:c.2950C>T NP_001394883.1:p.Gln984Ter nonsense NM_001407955.1:c.2950C>T NP_001394884.1:p.Gln984Ter nonsense NM_001407956.1:c.2950C>T NP_001394885.1:p.Gln984Ter nonsense NM_001407957.1:c.2953C>T NP_001394886.1:p.Gln985Ter nonsense NM_001407958.1:c.2950C>T NP_001394887.1:p.Gln984Ter nonsense NM_001407959.1:c.2905C>T NP_001394888.1:p.Gln969Ter nonsense NM_001407960.1:c.2905C>T NP_001394889.1:p.Gln969Ter nonsense NM_001407962.1:c.2902C>T NP_001394891.1:p.Gln968Ter nonsense NM_001407963.1:c.2905C>T NP_001394892.1:p.Gln969Ter nonsense NM_001407964.1:c.3142C>T NP_001394893.1:p.Gln1048Ter nonsense NM_001407965.1:c.2782C>T NP_001394894.1:p.Gln928Ter nonsense NM_001407966.1:c.2398C>T NP_001394895.1:p.Gln800Ter nonsense NM_001407967.1:c.2398C>T NP_001394896.1:p.Gln800Ter nonsense NM_001407968.1:c.788-106C>T intron variant NM_001407969.1:c.788-106C>T intron variant NM_001407970.1:c.788-1213C>T intron variant NM_001407971.1:c.788-1213C>T intron variant NM_001407972.1:c.785-1213C>T intron variant NM_001407973.1:c.788-1213C>T intron variant NM_001407974.1:c.788-1213C>T intron variant NM_001407975.1:c.788-1213C>T intron variant NM_001407976.1:c.788-1213C>T intron variant NM_001407977.1:c.788-1213C>T intron variant NM_001407978.1:c.788-1213C>T intron variant NM_001407979.1:c.788-1213C>T intron variant NM_001407980.1:c.788-1213C>T intron variant NM_001407981.1:c.788-1213C>T intron variant NM_001407982.1:c.788-1213C>T intron variant NM_001407983.1:c.788-1213C>T intron variant NM_001407984.1:c.785-1213C>T intron variant NM_001407985.1:c.785-1213C>T intron variant NM_001407986.1:c.785-1213C>T intron variant NM_001407990.1:c.788-1213C>T intron variant NM_001407991.1:c.785-1213C>T intron variant NM_001407992.1:c.785-1213C>T intron variant NM_001407993.1:c.788-1213C>T intron variant NM_001408392.1:c.785-1213C>T intron variant NM_001408396.1:c.785-1213C>T intron variant NM_001408397.1:c.785-1213C>T intron variant NM_001408398.1:c.785-1213C>T intron variant NM_001408399.1:c.785-1213C>T intron variant NM_001408400.1:c.785-1213C>T intron variant NM_001408401.1:c.785-1213C>T intron variant NM_001408402.1:c.785-1213C>T intron variant NM_001408403.1:c.788-1213C>T intron variant NM_001408404.1:c.788-1213C>T intron variant NM_001408406.1:c.791-1222C>T intron variant NM_001408407.1:c.785-1213C>T intron variant NM_001408408.1:c.779-1213C>T intron variant NM_001408409.1:c.710-1213C>T intron variant NM_001408410.1:c.647-1213C>T intron variant NM_001408411.1:c.710-1213C>T intron variant NM_001408412.1:c.710-1213C>T intron variant NM_001408413.1:c.707-1213C>T intron variant NM_001408414.1:c.710-1213C>T intron variant NM_001408415.1:c.710-1213C>T intron variant NM_001408416.1:c.707-1213C>T intron variant NM_001408418.1:c.671-1213C>T intron variant NM_001408419.1:c.671-1213C>T intron variant NM_001408420.1:c.671-1213C>T intron variant NM_001408421.1:c.668-1213C>T intron variant NM_001408422.1:c.671-1213C>T intron variant NM_001408423.1:c.671-1213C>T intron variant NM_001408424.1:c.668-1213C>T intron variant NM_001408425.1:c.665-1213C>T intron variant NM_001408426.1:c.665-1213C>T intron variant NM_001408427.1:c.665-1213C>T intron variant NM_001408428.1:c.665-1213C>T intron variant NM_001408429.1:c.665-1213C>T intron variant NM_001408430.1:c.665-1213C>T intron variant NM_001408431.1:c.668-1213C>T intron variant NM_001408432.1:c.662-1213C>T intron variant NM_001408433.1:c.662-1213C>T intron variant NM_001408434.1:c.662-1213C>T intron variant NM_001408435.1:c.662-1213C>T intron variant NM_001408436.1:c.665-1213C>T intron variant NM_001408437.1:c.665-1213C>T intron variant NM_001408438.1:c.665-1213C>T intron variant NM_001408439.1:c.665-1213C>T intron variant NM_001408440.1:c.665-1213C>T intron variant NM_001408441.1:c.665-1213C>T intron variant NM_001408442.1:c.665-1213C>T intron variant NM_001408443.1:c.665-1213C>T intron variant NM_001408444.1:c.665-1213C>T intron variant NM_001408445.1:c.662-1213C>T intron variant NM_001408446.1:c.662-1213C>T intron variant NM_001408447.1:c.662-1213C>T intron variant NM_001408448.1:c.662-1213C>T intron variant NM_001408450.1:c.662-1213C>T intron variant NM_001408451.1:c.653-1213C>T intron variant NM_001408452.1:c.647-1213C>T intron variant NM_001408453.1:c.647-1213C>T intron variant NM_001408454.1:c.647-1213C>T intron variant NM_001408455.1:c.647-1213C>T intron variant NM_001408456.1:c.647-1213C>T intron variant NM_001408457.1:c.647-1213C>T intron variant NM_001408458.1:c.647-1213C>T intron variant NM_001408459.1:c.647-1213C>T intron variant NM_001408460.1:c.647-1213C>T intron variant NM_001408461.1:c.647-1213C>T intron variant NM_001408462.1:c.644-1213C>T intron variant NM_001408463.1:c.644-1213C>T intron variant NM_001408464.1:c.644-1213C>T intron variant NM_001408465.1:c.644-1213C>T intron variant NM_001408466.1:c.647-1213C>T intron variant NM_001408467.1:c.647-1213C>T intron variant NM_001408468.1:c.644-1213C>T intron variant NM_001408469.1:c.647-1213C>T intron variant NM_001408470.1:c.644-1213C>T intron variant NM_001408472.1:c.788-1213C>T intron variant NM_001408473.1:c.785-1213C>T intron variant NM_001408474.1:c.587-1213C>T intron variant NM_001408475.1:c.584-1213C>T intron variant NM_001408476.1:c.587-1213C>T intron variant NM_001408478.1:c.578-1213C>T intron variant NM_001408479.1:c.578-1213C>T intron variant NM_001408480.1:c.578-1213C>T intron variant NM_001408481.1:c.578-1213C>T intron variant NM_001408482.1:c.578-1213C>T intron variant NM_001408483.1:c.578-1213C>T intron variant NM_001408484.1:c.578-1213C>T intron variant NM_001408485.1:c.578-1213C>T intron variant NM_001408489.1:c.578-1213C>T intron variant NM_001408490.1:c.575-1213C>T intron variant NM_001408491.1:c.575-1213C>T intron variant NM_001408492.1:c.578-1213C>T intron variant NM_001408493.1:c.575-1213C>T intron variant NM_001408494.1:c.548-1213C>T intron variant NM_001408495.1:c.545-1213C>T intron variant NM_001408496.1:c.524-1213C>T intron variant NM_001408497.1:c.524-1213C>T intron variant NM_001408498.1:c.524-1213C>T intron variant NM_001408499.1:c.524-1213C>T intron variant NM_001408500.1:c.524-1213C>T intron variant NM_001408501.1:c.524-1213C>T intron variant NM_001408502.1:c.455-1213C>T intron variant NM_001408503.1:c.521-1213C>T intron variant NM_001408504.1:c.521-1213C>T intron variant NM_001408505.1:c.521-1213C>T intron variant NM_001408506.1:c.461-1213C>T intron variant NM_001408507.1:c.461-1213C>T intron variant NM_001408508.1:c.452-1213C>T intron variant NM_001408509.1:c.452-1213C>T intron variant NM_001408510.1:c.407-1213C>T intron variant NM_001408511.1:c.404-1213C>T intron variant NM_001408512.1:c.284-1213C>T intron variant NM_001408513.1:c.578-1213C>T intron variant NM_001408514.1:c.578-1213C>T intron variant NM_007297.4:c.3145C>T NP_009228.2:p.Gln1049Ter nonsense NM_007298.4:c.788-1213C>T intron variant NM_007299.4:c.788-1213C>T intron variant NM_007300.3:c.3286C>T NM_007300.4:c.3286C>T NP_009231.2:p.Gln1096Ter nonsense NR_027676.1:n.3422C>T NC_000017.11:g.43092245G>A NC_000017.10:g.41244262G>A NG_005905.2:g.125739C>T NG_087068.1:g.1227G>A LRG_292:g.125739C>T LRG_292t1:c.3286C>T LRG_292p1:p.Gln1096Ter U14680.1:n.3405C>T - Protein change
- Q1096*, Q1049*, Q1055*, Q1007*, Q1070*, Q1093*, Q928*, Q968*, Q984*, Q985*, Q1008*, Q1025*, Q1029*, Q1069*, Q1095*, Q800*, Q1026*, Q1028*, Q1048*, Q1054*, Q969*
- Other names
- -
- Canonical SPDI
- NC_000017.11:43092244:G: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 |
13019 | 14822 | |
LOC126862571 | - | - | - | GRCh38 | - | 1650 |
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 | RCV000112045.16 | |
Pathogenic (1) |
criteria provided, single submitter
|
May 22, 2020 | RCV000486625.11 | |
Pathogenic (1) |
criteria provided, single submitter
|
Mar 27, 2023 | RCV000510107.12 | |
Pathogenic (1) |
no assertion criteria provided
|
- | RCV001356246.10 | |
Pathogenic (1) |
criteria provided, single submitter
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Jun 2, 2021 | RCV001386667.14 | |
Pathogenic (1) |
no assertion criteria provided
|
- | RCV003332109.2 |
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: SCV000299908.2
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
(Oct 01, 2021)
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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:
germline
|
MGZ Medical Genetics Center
Accession: SCV002580349.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022
Comment:
ACMG criteria applied: PVS1, PS4, PM2_SUP, PP4
|
Number of individuals with the variant: 1
Sex: female
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Pathogenic
(May 22, 2020)
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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: SCV000568409.6
First in ClinVar: Apr 27, 2017 Last updated: Mar 04, 2023 |
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 disease; Truncating … (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 in large population cohorts (Lek 2016); Also known as BRCA1 c.3405C>T; This variant is associated with the following publications: (PMID: 12181777, 15617999, 26083025, 25682074, 25525159, 25722380, 26187060, 28294317, 29446198, 30702160, 31825140, 32885271) (less)
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Pathogenic
(Jun 02, 2021)
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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
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Invitae
Accession: SCV001586992.4
First in ClinVar: May 10, 2021 Last updated: Feb 14, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with breast and ovarian cancer (PMID: 15617999, 25682074, … (more)
For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with breast and ovarian cancer (PMID: 15617999, 25682074, 27157322). ClinVar contains an entry for this variant (Variation ID: 54818). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln1096*) 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
(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: SCV000325599.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(Mar 27, 2023)
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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
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Ambry Genetics
Accession: SCV000608080.6
First in ClinVar: Oct 23, 2017 Last updated: May 01, 2024 |
Comment:
The p.Q1096* pathogenic mutation (also known as c.3286C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at … (more)
The p.Q1096* pathogenic mutation (also known as c.3286C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at nucleotide position 3286. This changes the amino acid from a glutamine to a stop codon within coding exon 9. This mutation has been reported in two individuals with a personal history of epithelial ovarian cancer and triple-negative breast cancer, respectively (Wong-Brown MW et al. Breast Cancer Res. Treat. 2015 Feb;150(1):71-80; Majdak EJ et al. Eur. J. Cancer 2005 Jan;41(1):143-50). 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
(May 05, 2023)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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KCCC/NGS Laboratory, Kuwait Cancer Control Center
Accession: SCV003927172.1
First in ClinVar: Jun 03, 2023 Last updated: Jun 03, 2023 |
Comment:
A known pathogenic mutation was detected in the BRCA1 gene (c.3286C>T). This sequence change creates a premature translational stop signal (p.Gln1096*) in the BRCA1 gene. … (more)
A known pathogenic mutation was detected in the BRCA1 gene (c.3286C>T). This sequence change creates a premature translational stop signal (p.Gln1096*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in gnomAD genomes. This variant has been reported in individuals affected with breast and ovarian cancer (PMID: 15617999, 25682074, 27157322). In-silico predictions show pathogenic computational verdict based on 5 pathogenic predictions from BayesDel_addAF, DANN, EIGEN, FATHMM-MKL and MutationTaster vs no benign predictions.This variant is also known as c.3405C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 54818) with 8 submissions all of which describe it as pathogenic, 3 stars, reviewed by expert panel. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic. (less)
Sex: female
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Pathogenic
(-)
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no assertion criteria provided
Method: research
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Malignant tumor of urinary bladder
Affected status: yes
Allele origin:
somatic
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Laboratory of Urology, Hospital Clinic de Barcelona
Accession: SCV004040521.1
First in ClinVar: Oct 07, 2023 Last updated: Oct 07, 2023 |
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Pathogenic
(May 29, 2002)
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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: SCV000144698.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Number of individuals with the variant: 1
Ethnicity/Population group: Pakistani
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Malignant tumor of breast
Affected status: yes
Allele origin:
unknown
|
Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001551361.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
BRCA1, EXON11, c.3286C>T, p.Gln1096X, Heterozygous, PathogenicrnThe BRCA1 p.Gln1096X variant was identified in 3 of 2880 proband chromosomes (frequency: 0.001) from individuals or families with breast … (more)
BRCA1, EXON11, c.3286C>T, p.Gln1096X, Heterozygous, PathogenicrnThe BRCA1 p.Gln1096X variant was identified in 3 of 2880 proband chromosomes (frequency: 0.001) from individuals or families with breast and ovarian cancer and was not identified in 400 control chromosomes from healthy individuals (Liede 2002, Majdak 2005, Wong-Brown 2015). The variant was also identified in the following databases: dbSNP (ID: rs80357485) as "With Pathogenic allele", ClinVar (5x pathogenic), Clinvitae (2x pathogenic), LOVD 3.0 (1x), UMD-LSDB (1x causal), BIC Database (1x pathogenic), and ARUP Laboratories. The variant was not identified in the COGR, Cosmic, MutDB, or the Zhejiang Colon Cancer Database. The variant was identified in control databases in 1 of 245392 chromosomes at a frequency of 0.000004 (Genome Aggregation Database Feb 27, 2017). It was observed in the East Asian population in 1 of 17248 chromosomes (freq: 0.00006), but not in the African, Ashkenazi Jewish, European (Finnish), European (Non-Finnish), Latino, Other, and South Asian populations. The c.3286C>T variant leads to a premature stop codon at position 1096 which is predicted to lead to a truncated or absent protein and loss of function. Loss of function variants of the BRCA1 gene are an established mechanism of disease in hereditary breast and ovarian cancer and is the type of variant expected to cause the disorder. In summary, based on the above information this variant meets our laboratory’s criteria to be classified as pathogenic. (less)
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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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Detection of Germline Mutation in Hereditary Breast and/or Ovarian Cancers by Next-Generation Sequencing on a Four-Gene Panel. | Kwong A | The Journal of molecular diagnostics : JMD | 2016 | PMID: 27157322 |
Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer. | Wong-Brown MW | Breast cancer research and treatment | 2015 | PMID: 25682074 |
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 |
Prevalence and clinical correlations of BRCA1/BRCA2 unclassified variant carriers among unselected primary ovarian cancer cases - preliminary report. | Majdak EJ | European journal of cancer (Oxford, England : 1990) | 2005 | PMID: 15617999 |
Text-mined citations for rs80357485 ...
HelpRecord last updated Sep 17, 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.