Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4225C>T (p.Gln1409Ter)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Pathogenic
Oct 2016 by
Evidence-based…
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.4225C>T (p.Gln1409Ter)
Variation ID: 266461 Accession: VCV000266461.19
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43082536 (GRCh38) [ NCBI UCSC ] 17: 41234553 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Oct 22, 2016 May 1, 2024 Oct 18, 2016 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4225C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gln1409Ter nonsense NM_001407571.1:c.4012C>T NP_001394500.1:p.Gln1338Ter nonsense NM_001407581.1:c.4225C>T NP_001394510.1:p.Gln1409Ter nonsense NM_001407582.1:c.4225C>T NP_001394511.1:p.Gln1409Ter nonsense NM_001407583.1:c.4225C>T NP_001394512.1:p.Gln1409Ter nonsense NM_001407585.1:c.4225C>T NP_001394514.1:p.Gln1409Ter nonsense NM_001407587.1:c.4222C>T NP_001394516.1:p.Gln1408Ter nonsense NM_001407590.1:c.4222C>T NP_001394519.1:p.Gln1408Ter nonsense NM_001407591.1:c.4222C>T NP_001394520.1:p.Gln1408Ter nonsense NM_001407593.1:c.4225C>T NP_001394522.1:p.Gln1409Ter nonsense NM_001407594.1:c.4225C>T NP_001394523.1:p.Gln1409Ter nonsense NM_001407596.1:c.4225C>T NP_001394525.1:p.Gln1409Ter nonsense NM_001407597.1:c.4225C>T NP_001394526.1:p.Gln1409Ter nonsense NM_001407598.1:c.4225C>T NP_001394527.1:p.Gln1409Ter nonsense NM_001407602.1:c.4225C>T NP_001394531.1:p.Gln1409Ter nonsense NM_001407603.1:c.4225C>T NP_001394532.1:p.Gln1409Ter nonsense NM_001407605.1:c.4225C>T NP_001394534.1:p.Gln1409Ter nonsense NM_001407610.1:c.4222C>T NP_001394539.1:p.Gln1408Ter nonsense NM_001407611.1:c.4222C>T NP_001394540.1:p.Gln1408Ter nonsense NM_001407612.1:c.4222C>T NP_001394541.1:p.Gln1408Ter nonsense NM_001407613.1:c.4222C>T NP_001394542.1:p.Gln1408Ter nonsense NM_001407614.1:c.4222C>T NP_001394543.1:p.Gln1408Ter nonsense NM_001407615.1:c.4222C>T NP_001394544.1:p.Gln1408Ter nonsense NM_001407616.1:c.4225C>T NP_001394545.1:p.Gln1409Ter nonsense NM_001407617.1:c.4225C>T NP_001394546.1:p.Gln1409Ter nonsense NM_001407618.1:c.4225C>T NP_001394547.1:p.Gln1409Ter nonsense NM_001407619.1:c.4225C>T NP_001394548.1:p.Gln1409Ter nonsense NM_001407620.1:c.4225C>T NP_001394549.1:p.Gln1409Ter nonsense NM_001407621.1:c.4225C>T NP_001394550.1:p.Gln1409Ter nonsense NM_001407622.1:c.4225C>T NP_001394551.1:p.Gln1409Ter nonsense NM_001407623.1:c.4225C>T NP_001394552.1:p.Gln1409Ter nonsense NM_001407624.1:c.4222C>T NP_001394553.1:p.Gln1408Ter nonsense NM_001407625.1:c.4222C>T NP_001394554.1:p.Gln1408Ter nonsense NM_001407626.1:c.4222C>T NP_001394555.1:p.Gln1408Ter nonsense NM_001407627.1:c.4219C>T NP_001394556.1:p.Gln1407Ter nonsense NM_001407628.1:c.4219C>T NP_001394557.1:p.Gln1407Ter nonsense NM_001407629.1:c.4219C>T NP_001394558.1:p.Gln1407Ter nonsense NM_001407630.1:c.4219C>T NP_001394559.1:p.Gln1407Ter nonsense NM_001407631.1:c.4219C>T NP_001394560.1:p.Gln1407Ter nonsense NM_001407632.1:c.4219C>T NP_001394561.1:p.Gln1407Ter nonsense NM_001407633.1:c.4222C>T NP_001394562.1:p.Gln1408Ter nonsense NM_001407634.1:c.4222C>T NP_001394563.1:p.Gln1408Ter nonsense NM_001407635.1:c.4222C>T NP_001394564.1:p.Gln1408Ter nonsense NM_001407636.1:c.4222C>T NP_001394565.1:p.Gln1408Ter nonsense NM_001407637.1:c.4222C>T NP_001394566.1:p.Gln1408Ter nonsense NM_001407638.1:c.4222C>T NP_001394567.1:p.Gln1408Ter nonsense NM_001407639.1:c.4222C>T NP_001394568.1:p.Gln1408Ter nonsense NM_001407640.1:c.4222C>T NP_001394569.1:p.Gln1408Ter nonsense NM_001407641.1:c.4222C>T NP_001394570.1:p.Gln1408Ter nonsense NM_001407642.1:c.4222C>T NP_001394571.1:p.Gln1408Ter nonsense NM_001407644.1:c.4219C>T NP_001394573.1:p.Gln1407Ter nonsense NM_001407645.1:c.4219C>T NP_001394574.1:p.Gln1407Ter nonsense NM_001407646.1:c.4213C>T NP_001394575.1:p.Gln1405Ter nonsense NM_001407647.1:c.4213C>T NP_001394576.1:p.Gln1405Ter nonsense NM_001407648.1:c.4102C>T NP_001394577.1:p.Gln1368Ter nonsense NM_001407649.1:c.4099C>T NP_001394578.1:p.Gln1367Ter nonsense NM_001407652.1:c.4225C>T NP_001394581.1:p.Gln1409Ter nonsense NM_001407653.1:c.4147C>T NP_001394582.1:p.Gln1383Ter nonsense NM_001407654.1:c.4147C>T NP_001394583.1:p.Gln1383Ter nonsense NM_001407655.1:c.4147C>T NP_001394584.1:p.Gln1383Ter nonsense NM_001407656.1:c.4144C>T NP_001394585.1:p.Gln1382Ter nonsense NM_001407657.1:c.4147C>T NP_001394586.1:p.Gln1383Ter nonsense NM_001407658.1:c.4147C>T NP_001394587.1:p.Gln1383Ter nonsense NM_001407659.1:c.4141C>T NP_001394588.1:p.Gln1381Ter nonsense NM_001407660.1:c.4141C>T NP_001394589.1:p.Gln1381Ter nonsense NM_001407661.1:c.4144C>T NP_001394590.1:p.Gln1382Ter nonsense NM_001407662.1:c.4144C>T NP_001394591.1:p.Gln1382Ter nonsense NM_001407663.1:c.4144C>T NP_001394592.1:p.Gln1382Ter nonsense NM_001407664.1:c.4102C>T NP_001394593.1:p.Gln1368Ter nonsense NM_001407665.1:c.4102C>T NP_001394594.1:p.Gln1368Ter nonsense NM_001407666.1:c.4102C>T NP_001394595.1:p.Gln1368Ter nonsense NM_001407667.1:c.4102C>T NP_001394596.1:p.Gln1368Ter nonsense NM_001407668.1:c.4102C>T NP_001394597.1:p.Gln1368Ter nonsense NM_001407669.1:c.4102C>T NP_001394598.1:p.Gln1368Ter nonsense NM_001407670.1:c.4099C>T NP_001394599.1:p.Gln1367Ter nonsense NM_001407671.1:c.4099C>T NP_001394600.1:p.Gln1367Ter nonsense NM_001407672.1:c.4099C>T NP_001394601.1:p.Gln1367Ter nonsense NM_001407673.1:c.4099C>T NP_001394602.1:p.Gln1367Ter nonsense NM_001407674.1:c.4099C>T NP_001394603.1:p.Gln1367Ter nonsense NM_001407675.1:c.4099C>T NP_001394604.1:p.Gln1367Ter nonsense NM_001407676.1:c.4099C>T NP_001394605.1:p.Gln1367Ter nonsense NM_001407677.1:c.4102C>T NP_001394606.1:p.Gln1368Ter nonsense NM_001407678.1:c.4102C>T NP_001394607.1:p.Gln1368Ter nonsense NM_001407679.1:c.4102C>T NP_001394608.1:p.Gln1368Ter nonsense NM_001407680.1:c.4102C>T NP_001394609.1:p.Gln1368Ter nonsense NM_001407681.1:c.4099C>T NP_001394610.1:p.Gln1367Ter nonsense NM_001407682.1:c.4099C>T NP_001394611.1:p.Gln1367Ter nonsense NM_001407683.1:c.4099C>T NP_001394612.1:p.Gln1367Ter nonsense NM_001407684.1:c.4225C>T NP_001394613.1:p.Gln1409Ter nonsense NM_001407685.1:c.4096C>T NP_001394614.1:p.Gln1366Ter nonsense NM_001407686.1:c.4096C>T NP_001394615.1:p.Gln1366Ter nonsense NM_001407687.1:c.4096C>T NP_001394616.1:p.Gln1366Ter nonsense NM_001407688.1:c.4099C>T NP_001394617.1:p.Gln1367Ter nonsense NM_001407689.1:c.4099C>T NP_001394618.1:p.Gln1367Ter nonsense NM_001407690.1:c.4096C>T NP_001394619.1:p.Gln1366Ter nonsense NM_001407691.1:c.4096C>T NP_001394620.1:p.Gln1366Ter nonsense NM_001407692.1:c.4084C>T NP_001394621.1:p.Gln1362Ter nonsense NM_001407694.1:c.4084C>T NP_001394623.1:p.Gln1362Ter nonsense NM_001407695.1:c.4084C>T NP_001394624.1:p.Gln1362Ter nonsense NM_001407696.1:c.4084C>T NP_001394625.1:p.Gln1362Ter nonsense NM_001407697.1:c.4084C>T NP_001394626.1:p.Gln1362Ter nonsense NM_001407698.1:c.4084C>T NP_001394627.1:p.Gln1362Ter nonsense NM_001407724.1:c.4084C>T NP_001394653.1:p.Gln1362Ter nonsense NM_001407725.1:c.4084C>T NP_001394654.1:p.Gln1362Ter nonsense NM_001407726.1:c.4084C>T NP_001394655.1:p.Gln1362Ter nonsense NM_001407727.1:c.4084C>T NP_001394656.1:p.Gln1362Ter nonsense NM_001407728.1:c.4084C>T NP_001394657.1:p.Gln1362Ter nonsense NM_001407729.1:c.4084C>T NP_001394658.1:p.Gln1362Ter nonsense NM_001407730.1:c.4084C>T NP_001394659.1:p.Gln1362Ter nonsense NM_001407731.1:c.4084C>T NP_001394660.1:p.Gln1362Ter nonsense NM_001407732.1:c.4084C>T NP_001394661.1:p.Gln1362Ter nonsense NM_001407733.1:c.4084C>T NP_001394662.1:p.Gln1362Ter nonsense NM_001407734.1:c.4084C>T NP_001394663.1:p.Gln1362Ter nonsense NM_001407735.1:c.4084C>T NP_001394664.1:p.Gln1362Ter nonsense NM_001407736.1:c.4084C>T NP_001394665.1:p.Gln1362Ter nonsense NM_001407737.1:c.4084C>T NP_001394666.1:p.Gln1362Ter nonsense NM_001407738.1:c.4084C>T NP_001394667.1:p.Gln1362Ter nonsense NM_001407739.1:c.4084C>T NP_001394668.1:p.Gln1362Ter nonsense NM_001407740.1:c.4081C>T NP_001394669.1:p.Gln1361Ter nonsense NM_001407741.1:c.4081C>T NP_001394670.1:p.Gln1361Ter nonsense NM_001407742.1:c.4081C>T NP_001394671.1:p.Gln1361Ter nonsense NM_001407743.1:c.4081C>T NP_001394672.1:p.Gln1361Ter nonsense NM_001407744.1:c.4081C>T NP_001394673.1:p.Gln1361Ter nonsense NM_001407745.1:c.4081C>T NP_001394674.1:p.Gln1361Ter nonsense NM_001407746.1:c.4081C>T NP_001394675.1:p.Gln1361Ter nonsense NM_001407747.1:c.4081C>T NP_001394676.1:p.Gln1361Ter nonsense NM_001407748.1:c.4081C>T NP_001394677.1:p.Gln1361Ter nonsense NM_001407749.1:c.4081C>T NP_001394678.1:p.Gln1361Ter nonsense NM_001407750.1:c.4081C>T NP_001394679.1:p.Gln1361Ter nonsense NM_001407751.1:c.4081C>T NP_001394680.1:p.Gln1361Ter nonsense NM_001407752.1:c.4081C>T NP_001394681.1:p.Gln1361Ter nonsense NM_001407838.1:c.4081C>T NP_001394767.1:p.Gln1361Ter nonsense NM_001407839.1:c.4081C>T NP_001394768.1:p.Gln1361Ter nonsense NM_001407841.1:c.4081C>T NP_001394770.1:p.Gln1361Ter nonsense NM_001407842.1:c.4081C>T NP_001394771.1:p.Gln1361Ter nonsense NM_001407843.1:c.4081C>T NP_001394772.1:p.Gln1361Ter nonsense NM_001407844.1:c.4081C>T NP_001394773.1:p.Gln1361Ter nonsense NM_001407845.1:c.4081C>T NP_001394774.1:p.Gln1361Ter nonsense NM_001407846.1:c.4081C>T NP_001394775.1:p.Gln1361Ter nonsense NM_001407847.1:c.4078C>T NP_001394776.1:p.Gln1360Ter nonsense NM_001407848.1:c.4078C>T NP_001394777.1:p.Gln1360Ter nonsense NM_001407849.1:c.4078C>T NP_001394778.1:p.Gln1360Ter nonsense NM_001407850.1:c.4081C>T NP_001394779.1:p.Gln1361Ter nonsense NM_001407851.1:c.4081C>T NP_001394780.1:p.Gln1361Ter nonsense NM_001407852.1:c.4081C>T NP_001394781.1:p.Gln1361Ter nonsense NM_001407853.1:c.4012C>T NP_001394782.1:p.Gln1338Ter nonsense NM_001407854.1:c.4225C>T NP_001394783.1:p.Gln1409Ter nonsense NM_001407858.1:c.4225C>T NP_001394787.1:p.Gln1409Ter nonsense NM_001407859.1:c.4225C>T NP_001394788.1:p.Gln1409Ter nonsense NM_001407860.1:c.4222C>T NP_001394789.1:p.Gln1408Ter nonsense NM_001407861.1:c.4222C>T NP_001394790.1:p.Gln1408Ter nonsense NM_001407862.1:c.4024C>T NP_001394791.1:p.Gln1342Ter nonsense NM_001407863.1:c.4102C>T NP_001394792.1:p.Gln1368Ter nonsense NM_001407874.1:c.4021C>T NP_001394803.1:p.Gln1341Ter nonsense NM_001407875.1:c.4021C>T NP_001394804.1:p.Gln1341Ter nonsense NM_001407879.1:c.4015C>T NP_001394808.1:p.Gln1339Ter nonsense NM_001407881.1:c.4015C>T NP_001394810.1:p.Gln1339Ter nonsense NM_001407882.1:c.4015C>T NP_001394811.1:p.Gln1339Ter nonsense NM_001407884.1:c.4015C>T NP_001394813.1:p.Gln1339Ter nonsense NM_001407885.1:c.4015C>T NP_001394814.1:p.Gln1339Ter nonsense NM_001407886.1:c.4015C>T NP_001394815.1:p.Gln1339Ter nonsense NM_001407887.1:c.4015C>T NP_001394816.1:p.Gln1339Ter nonsense NM_001407889.1:c.4015C>T NP_001394818.1:p.Gln1339Ter nonsense NM_001407894.1:c.4012C>T NP_001394823.1:p.Gln1338Ter nonsense NM_001407895.1:c.4012C>T NP_001394824.1:p.Gln1338Ter nonsense NM_001407896.1:c.4012C>T NP_001394825.1:p.Gln1338Ter nonsense NM_001407897.1:c.4012C>T NP_001394826.1:p.Gln1338Ter nonsense NM_001407898.1:c.4012C>T NP_001394827.1:p.Gln1338Ter nonsense NM_001407899.1:c.4012C>T NP_001394828.1:p.Gln1338Ter nonsense NM_001407900.1:c.4015C>T NP_001394829.1:p.Gln1339Ter nonsense NM_001407902.1:c.4015C>T NP_001394831.1:p.Gln1339Ter nonsense NM_001407904.1:c.4015C>T NP_001394833.1:p.Gln1339Ter nonsense NM_001407906.1:c.4015C>T NP_001394835.1:p.Gln1339Ter nonsense NM_001407907.1:c.4012C>T NP_001394836.1:p.Gln1338Ter nonsense NM_001407908.1:c.4012C>T NP_001394837.1:p.Gln1338Ter nonsense NM_001407909.1:c.4012C>T NP_001394838.1:p.Gln1338Ter nonsense NM_001407910.1:c.4012C>T NP_001394839.1:p.Gln1338Ter nonsense NM_001407915.1:c.4009C>T NP_001394844.1:p.Gln1337Ter nonsense NM_001407916.1:c.4012C>T NP_001394845.1:p.Gln1338Ter nonsense NM_001407917.1:c.4012C>T NP_001394846.1:p.Gln1338Ter nonsense NM_001407918.1:c.4012C>T NP_001394847.1:p.Gln1338Ter nonsense NM_001407919.1:c.4102C>T NP_001394848.1:p.Gln1368Ter nonsense NM_001407920.1:c.3961C>T NP_001394849.1:p.Gln1321Ter nonsense NM_001407921.1:c.3961C>T NP_001394850.1:p.Gln1321Ter nonsense NM_001407922.1:c.3961C>T NP_001394851.1:p.Gln1321Ter nonsense NM_001407923.1:c.3961C>T NP_001394852.1:p.Gln1321Ter nonsense NM_001407924.1:c.3961C>T NP_001394853.1:p.Gln1321Ter nonsense NM_001407925.1:c.3961C>T NP_001394854.1:p.Gln1321Ter nonsense NM_001407926.1:c.3961C>T NP_001394855.1:p.Gln1321Ter nonsense NM_001407927.1:c.3961C>T NP_001394856.1:p.Gln1321Ter nonsense NM_001407928.1:c.3961C>T NP_001394857.1:p.Gln1321Ter nonsense NM_001407929.1:c.3961C>T NP_001394858.1:p.Gln1321Ter nonsense NM_001407930.1:c.3958C>T NP_001394859.1:p.Gln1320Ter nonsense NM_001407931.1:c.3958C>T NP_001394860.1:p.Gln1320Ter nonsense NM_001407932.1:c.3958C>T NP_001394861.1:p.Gln1320Ter nonsense NM_001407933.1:c.3958C>T NP_001394862.1:p.Gln1320Ter nonsense NM_001407934.1:c.3955C>T NP_001394863.1:p.Gln1319Ter nonsense NM_001407935.1:c.3958C>T NP_001394864.1:p.Gln1320Ter nonsense NM_001407936.1:c.3958C>T NP_001394865.1:p.Gln1320Ter nonsense NM_001407937.1:c.4102C>T NP_001394866.1:p.Gln1368Ter nonsense NM_001407938.1:c.4102C>T NP_001394867.1:p.Gln1368Ter nonsense NM_001407939.1:c.4102C>T NP_001394868.1:p.Gln1368Ter nonsense NM_001407940.1:c.4099C>T NP_001394869.1:p.Gln1367Ter nonsense NM_001407941.1:c.4099C>T NP_001394870.1:p.Gln1367Ter nonsense NM_001407942.1:c.4084C>T NP_001394871.1:p.Gln1362Ter nonsense NM_001407943.1:c.4081C>T NP_001394872.1:p.Gln1361Ter nonsense NM_001407944.1:c.4084C>T NP_001394873.1:p.Gln1362Ter nonsense NM_001407945.1:c.4084C>T NP_001394874.1:p.Gln1362Ter nonsense NM_001407946.1:c.3892C>T NP_001394875.1:p.Gln1298Ter nonsense NM_001407947.1:c.3892C>T NP_001394876.1:p.Gln1298Ter nonsense NM_001407948.1:c.3892C>T NP_001394877.1:p.Gln1298Ter nonsense NM_001407949.1:c.3892C>T NP_001394878.1:p.Gln1298Ter nonsense NM_001407950.1:c.3892C>T NP_001394879.1:p.Gln1298Ter nonsense NM_001407951.1:c.3892C>T NP_001394880.1:p.Gln1298Ter nonsense NM_001407952.1:c.3889C>T NP_001394881.1:p.Gln1297Ter nonsense NM_001407953.1:c.3889C>T NP_001394882.1:p.Gln1297Ter nonsense NM_001407954.1:c.3889C>T NP_001394883.1:p.Gln1297Ter nonsense NM_001407955.1:c.3889C>T NP_001394884.1:p.Gln1297Ter nonsense NM_001407956.1:c.3886C>T NP_001394885.1:p.Gln1296Ter nonsense NM_001407957.1:c.3889C>T NP_001394886.1:p.Gln1297Ter nonsense NM_001407958.1:c.3889C>T NP_001394887.1:p.Gln1297Ter nonsense NM_001407959.1:c.3844C>T NP_001394888.1:p.Gln1282Ter nonsense NM_001407960.1:c.3844C>T NP_001394889.1:p.Gln1282Ter nonsense NM_001407962.1:c.3841C>T NP_001394891.1:p.Gln1281Ter nonsense NM_001407963.1:c.3841C>T NP_001394892.1:p.Gln1281Ter nonsense NM_001407964.1:c.4081C>T NP_001394893.1:p.Gln1361Ter nonsense NM_001407965.1:c.3718C>T NP_001394894.1:p.Gln1240Ter nonsense NM_001407966.1:c.3337C>T NP_001394895.1:p.Gln1113Ter nonsense NM_001407967.1:c.3337C>T NP_001394896.1:p.Gln1113Ter nonsense NM_001407968.1:c.1621C>T NP_001394897.1:p.Gln541Ter nonsense NM_001407969.1:c.1618C>T NP_001394898.1:p.Gln540Ter nonsense NM_001407970.1:c.916C>T NP_001394899.1:p.Gln306Ter nonsense NM_001407971.1:c.916C>T NP_001394900.1:p.Gln306Ter nonsense NM_001407972.1:c.913C>T NP_001394901.1:p.Gln305Ter nonsense NM_001407973.1:c.916C>T NP_001394902.1:p.Gln306Ter nonsense NM_001407974.1:c.916C>T NP_001394903.1:p.Gln306Ter nonsense NM_001407975.1:c.916C>T NP_001394904.1:p.Gln306Ter nonsense NM_001407976.1:c.916C>T NP_001394905.1:p.Gln306Ter nonsense NM_001407977.1:c.916C>T NP_001394906.1:p.Gln306Ter nonsense NM_001407978.1:c.916C>T NP_001394907.1:p.Gln306Ter nonsense NM_001407979.1:c.913C>T NP_001394908.1:p.Gln305Ter nonsense NM_001407980.1:c.913C>T NP_001394909.1:p.Gln305Ter nonsense NM_001407981.1:c.913C>T NP_001394910.1:p.Gln305Ter nonsense NM_001407982.1:c.913C>T NP_001394911.1:p.Gln305Ter nonsense NM_001407983.1:c.913C>T NP_001394912.1:p.Gln305Ter nonsense NM_001407984.1:c.913C>T NP_001394913.1:p.Gln305Ter nonsense NM_001407985.1:c.913C>T NP_001394914.1:p.Gln305Ter nonsense NM_001407986.1:c.913C>T NP_001394915.1:p.Gln305Ter nonsense NM_001407990.1:c.913C>T NP_001394919.1:p.Gln305Ter nonsense NM_001407991.1:c.913C>T NP_001394920.1:p.Gln305Ter nonsense NM_001407992.1:c.913C>T NP_001394921.1:p.Gln305Ter nonsense NM_001407993.1:c.916C>T NP_001394922.1:p.Gln306Ter nonsense NM_001408392.1:c.913C>T NP_001395321.1:p.Gln305Ter nonsense NM_001408396.1:c.913C>T NP_001395325.1:p.Gln305Ter nonsense NM_001408397.1:c.913C>T NP_001395326.1:p.Gln305Ter nonsense NM_001408398.1:c.913C>T NP_001395327.1:p.Gln305Ter nonsense NM_001408399.1:c.913C>T NP_001395328.1:p.Gln305Ter nonsense NM_001408400.1:c.910C>T NP_001395329.1:p.Gln304Ter nonsense NM_001408401.1:c.910C>T NP_001395330.1:p.Gln304Ter nonsense NM_001408402.1:c.910C>T NP_001395331.1:p.Gln304Ter nonsense NM_001408403.1:c.913C>T NP_001395332.1:p.Gln305Ter nonsense NM_001408404.1:c.913C>T NP_001395333.1:p.Gln305Ter nonsense NM_001408406.1:c.907C>T NP_001395335.1:p.Gln303Ter nonsense NM_001408407.1:c.910C>T NP_001395336.1:p.Gln304Ter nonsense NM_001408408.1:c.907C>T NP_001395337.1:p.Gln303Ter nonsense NM_001408409.1:c.838C>T NP_001395338.1:p.Gln280Ter nonsense NM_001408410.1:c.775C>T NP_001395339.1:p.Gln259Ter nonsense NM_001408411.1:c.838C>T NP_001395340.1:p.Gln280Ter nonsense NM_001408412.1:c.838C>T NP_001395341.1:p.Gln280Ter nonsense NM_001408413.1:c.835C>T NP_001395342.1:p.Gln279Ter nonsense NM_001408414.1:c.838C>T NP_001395343.1:p.Gln280Ter nonsense NM_001408415.1:c.838C>T NP_001395344.1:p.Gln280Ter nonsense NM_001408416.1:c.835C>T NP_001395345.1:p.Gln279Ter nonsense NM_001408418.1:c.799C>T NP_001395347.1:p.Gln267Ter nonsense NM_001408419.1:c.799C>T NP_001395348.1:p.Gln267Ter nonsense NM_001408420.1:c.799C>T NP_001395349.1:p.Gln267Ter nonsense NM_001408421.1:c.796C>T NP_001395350.1:p.Gln266Ter nonsense NM_001408422.1:c.799C>T NP_001395351.1:p.Gln267Ter nonsense NM_001408423.1:c.799C>T NP_001395352.1:p.Gln267Ter nonsense NM_001408424.1:c.796C>T NP_001395353.1:p.Gln266Ter nonsense NM_001408425.1:c.793C>T NP_001395354.1:p.Gln265Ter nonsense NM_001408426.1:c.793C>T NP_001395355.1:p.Gln265Ter nonsense NM_001408427.1:c.793C>T NP_001395356.1:p.Gln265Ter nonsense NM_001408428.1:c.793C>T NP_001395357.1:p.Gln265Ter nonsense NM_001408429.1:c.793C>T NP_001395358.1:p.Gln265Ter nonsense NM_001408430.1:c.793C>T NP_001395359.1:p.Gln265Ter nonsense NM_001408431.1:c.796C>T NP_001395360.1:p.Gln266Ter nonsense NM_001408432.1:c.790C>T NP_001395361.1:p.Gln264Ter nonsense NM_001408433.1:c.790C>T NP_001395362.1:p.Gln264Ter nonsense NM_001408434.1:c.790C>T NP_001395363.1:p.Gln264Ter nonsense NM_001408435.1:c.790C>T NP_001395364.1:p.Gln264Ter nonsense NM_001408436.1:c.793C>T NP_001395365.1:p.Gln265Ter nonsense NM_001408437.1:c.793C>T NP_001395366.1:p.Gln265Ter nonsense NM_001408438.1:c.793C>T NP_001395367.1:p.Gln265Ter nonsense NM_001408439.1:c.793C>T NP_001395368.1:p.Gln265Ter nonsense NM_001408440.1:c.793C>T NP_001395369.1:p.Gln265Ter nonsense NM_001408441.1:c.790C>T NP_001395370.1:p.Gln264Ter nonsense NM_001408442.1:c.790C>T NP_001395371.1:p.Gln264Ter nonsense NM_001408443.1:c.790C>T NP_001395372.1:p.Gln264Ter nonsense NM_001408444.1:c.790C>T NP_001395373.1:p.Gln264Ter nonsense NM_001408445.1:c.790C>T NP_001395374.1:p.Gln264Ter nonsense NM_001408446.1:c.790C>T NP_001395375.1:p.Gln264Ter nonsense NM_001408447.1:c.790C>T NP_001395376.1:p.Gln264Ter nonsense NM_001408448.1:c.790C>T NP_001395377.1:p.Gln264Ter nonsense NM_001408450.1:c.790C>T NP_001395379.1:p.Gln264Ter nonsense NM_001408451.1:c.781C>T NP_001395380.1:p.Gln261Ter nonsense NM_001408452.1:c.775C>T NP_001395381.1:p.Gln259Ter nonsense NM_001408453.1:c.775C>T NP_001395382.1:p.Gln259Ter nonsense NM_001408454.1:c.775C>T NP_001395383.1:p.Gln259Ter nonsense NM_001408455.1:c.775C>T NP_001395384.1:p.Gln259Ter nonsense NM_001408456.1:c.775C>T NP_001395385.1:p.Gln259Ter nonsense NM_001408457.1:c.775C>T NP_001395386.1:p.Gln259Ter nonsense NM_001408458.1:c.775C>T NP_001395387.1:p.Gln259Ter nonsense NM_001408459.1:c.775C>T NP_001395388.1:p.Gln259Ter nonsense NM_001408460.1:c.775C>T NP_001395389.1:p.Gln259Ter nonsense NM_001408461.1:c.775C>T NP_001395390.1:p.Gln259Ter nonsense NM_001408462.1:c.772C>T NP_001395391.1:p.Gln258Ter nonsense NM_001408463.1:c.772C>T NP_001395392.1:p.Gln258Ter nonsense NM_001408464.1:c.772C>T NP_001395393.1:p.Gln258Ter nonsense NM_001408465.1:c.772C>T NP_001395394.1:p.Gln258Ter nonsense NM_001408466.1:c.772C>T NP_001395395.1:p.Gln258Ter nonsense NM_001408467.1:c.772C>T NP_001395396.1:p.Gln258Ter nonsense NM_001408468.1:c.772C>T NP_001395397.1:p.Gln258Ter nonsense NM_001408469.1:c.772C>T NP_001395398.1:p.Gln258Ter nonsense NM_001408470.1:c.769C>T NP_001395399.1:p.Gln257Ter nonsense NM_001408472.1:c.913C>T NP_001395401.1:p.Gln305Ter nonsense NM_001408473.1:c.913C>T NP_001395402.1:p.Gln305Ter nonsense NM_001408474.1:c.715C>T NP_001395403.1:p.Gln239Ter nonsense NM_001408475.1:c.712C>T NP_001395404.1:p.Gln238Ter nonsense NM_001408476.1:c.715C>T NP_001395405.1:p.Gln239Ter nonsense NM_001408478.1:c.706C>T NP_001395407.1:p.Gln236Ter nonsense NM_001408479.1:c.706C>T NP_001395408.1:p.Gln236Ter nonsense NM_001408480.1:c.706C>T NP_001395409.1:p.Gln236Ter nonsense NM_001408481.1:c.706C>T NP_001395410.1:p.Gln236Ter nonsense NM_001408482.1:c.706C>T NP_001395411.1:p.Gln236Ter nonsense NM_001408483.1:c.706C>T NP_001395412.1:p.Gln236Ter nonsense NM_001408484.1:c.706C>T NP_001395413.1:p.Gln236Ter nonsense NM_001408485.1:c.706C>T NP_001395414.1:p.Gln236Ter nonsense NM_001408489.1:c.703C>T NP_001395418.1:p.Gln235Ter nonsense NM_001408490.1:c.703C>T NP_001395419.1:p.Gln235Ter nonsense NM_001408491.1:c.703C>T NP_001395420.1:p.Gln235Ter nonsense NM_001408492.1:c.703C>T NP_001395421.1:p.Gln235Ter nonsense NM_001408493.1:c.703C>T NP_001395422.1:p.Gln235Ter nonsense NM_001408494.1:c.676C>T NP_001395423.1:p.Gln226Ter nonsense NM_001408495.1:c.673C>T NP_001395424.1:p.Gln225Ter nonsense NM_001408496.1:c.652C>T NP_001395425.1:p.Gln218Ter nonsense NM_001408497.1:c.652C>T NP_001395426.1:p.Gln218Ter nonsense NM_001408498.1:c.652C>T NP_001395427.1:p.Gln218Ter nonsense NM_001408499.1:c.652C>T NP_001395428.1:p.Gln218Ter nonsense NM_001408500.1:c.652C>T NP_001395429.1:p.Gln218Ter nonsense NM_001408501.1:c.652C>T NP_001395430.1:p.Gln218Ter nonsense NM_001408502.1:c.583C>T NP_001395431.1:p.Gln195Ter nonsense NM_001408503.1:c.649C>T NP_001395432.1:p.Gln217Ter nonsense NM_001408504.1:c.649C>T NP_001395433.1:p.Gln217Ter nonsense NM_001408505.1:c.649C>T NP_001395434.1:p.Gln217Ter nonsense NM_001408506.1:c.589C>T NP_001395435.1:p.Gln197Ter nonsense NM_001408507.1:c.586C>T NP_001395436.1:p.Gln196Ter nonsense NM_001408508.1:c.577C>T NP_001395437.1:p.Gln193Ter nonsense NM_001408509.1:c.577C>T NP_001395438.1:p.Gln193Ter nonsense NM_001408510.1:c.535C>T NP_001395439.1:p.Gln179Ter nonsense NM_001408511.1:c.532C>T NP_001395440.1:p.Gln178Ter nonsense NM_001408512.1:c.412C>T NP_001395441.1:p.Gln138Ter nonsense NM_001408513.1:c.703C>T NP_001395442.1:p.Gln235Ter nonsense NM_001408514.1:c.706C>T NP_001395443.1:p.Gln236Ter nonsense NM_007297.4:c.4084C>T NP_009228.2:p.Gln1362Ter nonsense NM_007298.4:c.916C>T NP_009229.2:p.Gln306Ter nonsense NM_007299.4:c.916C>T NP_009230.2:p.Gln306Ter nonsense NM_007300.4:c.4225C>T NP_009231.2:p.Gln1409Ter nonsense NM_007304.2:c.916C>T NP_009235.2:p.Gln306Ter nonsense NR_027676.2:n.4402C>T non-coding transcript variant NC_000017.11:g.43082536G>A NC_000017.10:g.41234553G>A NG_005905.2:g.135448C>T LRG_292:g.135448C>T LRG_292t1:c.4225C>T LRG_292p1:p.Gln1409Ter - Protein change
- Q1409*, Q1362*, Q306*, Q1298*, Q1320*, Q1339*, Q1367*, Q138*, Q1382*, Q1383*, Q1407*, Q195*, Q196*, Q197*, Q217*, Q258*, Q266*, Q305*, Q540*, Q1319*, Q1321*, Q1342*, Q1361*, Q1381*, Q179*, Q218*, Q225*, Q236*, Q238*, Q257*, Q267*, Q304*, Q541*, Q1240*, Q1281*, Q1337*, Q1338*, Q1341*, Q1360*, Q1368*, Q1405*, Q193*, Q235*, Q239*, Q261*, Q264*, Q265*, Q279*, Q1113*, Q1282*, Q1296*, Q1297*, Q1366*, Q1408*, Q178*, Q226*, Q259*, Q280*, Q303*
- Other names
-
4344C>T
- Canonical SPDI
- NC_000017.11:43082535:G:A
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| 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 |
13044 | 14850 | |
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. |
|---|---|---|---|---|
| Pathogenic (3) |
reviewed by expert panel
|
Oct 18, 2016 | RCV000256907.7 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Dec 13, 2021 | RCV000536293.8 | |
| Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Aug 9, 2021 | RCV000570823.7 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Dec 15, 2017 | RCV000759536.3 |
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. |
|
|---|---|---|---|---|---|
|
Pathogenic
(Oct 18, 2016)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000323744.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
|
Pathogenic
(Dec 15, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000888912.2
First in ClinVar: Mar 14, 2019 Last updated: Jan 01, 2022 |
|
|
|
Pathogenic
(Jan 15, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV001345916.2
First in ClinVar: Jun 22, 2020 Last updated: Jan 12, 2022 |
Comment:
This variant changes 1 nucleotide in exon 12 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in … (more)
This variant changes 1 nucleotide in exon 12 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
|
|
|
Pathogenic
(Oct 02, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000325902.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
|
|
Pathogenic
(Dec 13, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000635955.6
First in ClinVar: Dec 26, 2017 Last updated: Feb 20, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Gln1409*) 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.Gln1409*) 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: 266461). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. (less)
|
|
|
Pathogenic
(Aug 09, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000661147.5
First in ClinVar: Jan 01, 2018 Last updated: May 01, 2024 |
Comment:
The p.Q1409* pathogenic mutation (also known as c.4225C>T), located in coding exon 11 of the BRCA1 gene, results from a C to T substitution at … (more)
The p.Q1409* pathogenic mutation (also known as c.4225C>T), located in coding exon 11 of the BRCA1 gene, results from a C to T substitution at nucleotide position 4225. This changes the amino acid from a glutamine to a stop codon within coding exon 11. This alteration was identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum Mutat, 2018 05;39:593-620). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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)
|
|
|
Pathogenic
(Apr 18, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV001428895.1
First in ClinVar: Aug 17, 2020 Last updated: Aug 17, 2020 |
Number of individuals with the variant: 1
|
Comment:
Comment:
This variant changes 1 nucleotide in exon 12 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Comment:
This sequence change creates a premature translational stop signal (p.Gln1409*) 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: 266461). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
Comment:
The p.Q1409* pathogenic mutation (also known as c.4225C>T), located in coding exon 11 of the BRCA1 gene, results from a C to T substitution at nucleotide position 4225. This changes the amino acid from a glutamine to a stop codon within coding exon 11. This alteration was identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum Mutat, 2018 05;39:593-620). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.
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. |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Comment:
This variant changes 1 nucleotide in exon 12 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Comment:
This sequence change creates a premature translational stop signal (p.Gln1409*) 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: 266461). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
Comment:
The p.Q1409* pathogenic mutation (also known as c.4225C>T), located in coding exon 11 of the BRCA1 gene, results from a C to T substitution at nucleotide position 4225. This changes the amino acid from a glutamine to a stop codon within coding exon 11. This alteration was identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum Mutat, 2018 05;39:593-620). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
| 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 rs886040218 ...
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Record 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.