ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter)
Variation ID: 54929 Accession: VCV000054929.38
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43091933 (GRCh38) [ NCBI UCSC ] 17: 41243950 (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 Aug 4, 2024 Apr 22, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.3598C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gln1200Ter nonsense NM_001407571.1:c.3385C>T NP_001394500.1:p.Gln1129Ter nonsense NM_001407581.1:c.3598C>T NP_001394510.1:p.Gln1200Ter nonsense NM_001407582.1:c.3598C>T NP_001394511.1:p.Gln1200Ter nonsense NM_001407583.1:c.3598C>T NP_001394512.1:p.Gln1200Ter nonsense NM_001407585.1:c.3598C>T NP_001394514.1:p.Gln1200Ter nonsense NM_001407587.1:c.3595C>T NP_001394516.1:p.Gln1199Ter nonsense NM_001407590.1:c.3595C>T NP_001394519.1:p.Gln1199Ter nonsense NM_001407591.1:c.3595C>T NP_001394520.1:p.Gln1199Ter nonsense NM_001407593.1:c.3598C>T NP_001394522.1:p.Gln1200Ter nonsense NM_001407594.1:c.3598C>T NP_001394523.1:p.Gln1200Ter nonsense NM_001407596.1:c.3598C>T NP_001394525.1:p.Gln1200Ter nonsense NM_001407597.1:c.3598C>T NP_001394526.1:p.Gln1200Ter nonsense NM_001407598.1:c.3598C>T NP_001394527.1:p.Gln1200Ter nonsense NM_001407602.1:c.3598C>T NP_001394531.1:p.Gln1200Ter nonsense NM_001407603.1:c.3598C>T NP_001394532.1:p.Gln1200Ter nonsense NM_001407605.1:c.3598C>T NP_001394534.1:p.Gln1200Ter nonsense NM_001407610.1:c.3595C>T NP_001394539.1:p.Gln1199Ter nonsense NM_001407611.1:c.3595C>T NP_001394540.1:p.Gln1199Ter nonsense NM_001407612.1:c.3595C>T NP_001394541.1:p.Gln1199Ter nonsense NM_001407613.1:c.3595C>T NP_001394542.1:p.Gln1199Ter nonsense NM_001407614.1:c.3595C>T NP_001394543.1:p.Gln1199Ter nonsense NM_001407615.1:c.3595C>T NP_001394544.1:p.Gln1199Ter nonsense NM_001407616.1:c.3598C>T NP_001394545.1:p.Gln1200Ter nonsense NM_001407617.1:c.3598C>T NP_001394546.1:p.Gln1200Ter nonsense NM_001407618.1:c.3598C>T NP_001394547.1:p.Gln1200Ter nonsense NM_001407619.1:c.3598C>T NP_001394548.1:p.Gln1200Ter nonsense NM_001407620.1:c.3598C>T NP_001394549.1:p.Gln1200Ter nonsense NM_001407621.1:c.3598C>T NP_001394550.1:p.Gln1200Ter nonsense NM_001407622.1:c.3598C>T NP_001394551.1:p.Gln1200Ter nonsense NM_001407623.1:c.3598C>T NP_001394552.1:p.Gln1200Ter nonsense NM_001407624.1:c.3598C>T NP_001394553.1:p.Gln1200Ter nonsense NM_001407625.1:c.3598C>T NP_001394554.1:p.Gln1200Ter nonsense NM_001407626.1:c.3598C>T NP_001394555.1:p.Gln1200Ter nonsense NM_001407627.1:c.3595C>T NP_001394556.1:p.Gln1199Ter nonsense NM_001407628.1:c.3595C>T NP_001394557.1:p.Gln1199Ter nonsense NM_001407629.1:c.3595C>T NP_001394558.1:p.Gln1199Ter nonsense NM_001407630.1:c.3595C>T NP_001394559.1:p.Gln1199Ter nonsense NM_001407631.1:c.3595C>T NP_001394560.1:p.Gln1199Ter nonsense NM_001407632.1:c.3595C>T NP_001394561.1:p.Gln1199Ter nonsense NM_001407633.1:c.3595C>T NP_001394562.1:p.Gln1199Ter nonsense NM_001407634.1:c.3595C>T NP_001394563.1:p.Gln1199Ter nonsense NM_001407635.1:c.3595C>T NP_001394564.1:p.Gln1199Ter nonsense NM_001407636.1:c.3595C>T NP_001394565.1:p.Gln1199Ter nonsense NM_001407637.1:c.3595C>T NP_001394566.1:p.Gln1199Ter nonsense NM_001407638.1:c.3595C>T NP_001394567.1:p.Gln1199Ter nonsense NM_001407639.1:c.3598C>T NP_001394568.1:p.Gln1200Ter nonsense NM_001407640.1:c.3598C>T NP_001394569.1:p.Gln1200Ter nonsense NM_001407641.1:c.3598C>T NP_001394570.1:p.Gln1200Ter nonsense NM_001407642.1:c.3598C>T NP_001394571.1:p.Gln1200Ter nonsense NM_001407644.1:c.3595C>T NP_001394573.1:p.Gln1199Ter nonsense NM_001407645.1:c.3595C>T NP_001394574.1:p.Gln1199Ter nonsense NM_001407646.1:c.3589C>T NP_001394575.1:p.Gln1197Ter nonsense NM_001407647.1:c.3589C>T NP_001394576.1:p.Gln1197Ter nonsense NM_001407648.1:c.3475C>T NP_001394577.1:p.Gln1159Ter nonsense NM_001407649.1:c.3472C>T NP_001394578.1:p.Gln1158Ter nonsense NM_001407652.1:c.3598C>T NP_001394581.1:p.Gln1200Ter nonsense NM_001407653.1:c.3520C>T NP_001394582.1:p.Gln1174Ter nonsense NM_001407654.1:c.3520C>T NP_001394583.1:p.Gln1174Ter nonsense NM_001407655.1:c.3520C>T NP_001394584.1:p.Gln1174Ter nonsense NM_001407656.1:c.3520C>T NP_001394585.1:p.Gln1174Ter nonsense NM_001407657.1:c.3520C>T NP_001394586.1:p.Gln1174Ter nonsense NM_001407658.1:c.3520C>T NP_001394587.1:p.Gln1174Ter nonsense NM_001407659.1:c.3517C>T NP_001394588.1:p.Gln1173Ter nonsense NM_001407660.1:c.3517C>T NP_001394589.1:p.Gln1173Ter nonsense NM_001407661.1:c.3517C>T NP_001394590.1:p.Gln1173Ter nonsense NM_001407662.1:c.3517C>T NP_001394591.1:p.Gln1173Ter nonsense NM_001407663.1:c.3520C>T NP_001394592.1:p.Gln1174Ter nonsense NM_001407664.1:c.3475C>T NP_001394593.1:p.Gln1159Ter nonsense NM_001407665.1:c.3475C>T NP_001394594.1:p.Gln1159Ter nonsense NM_001407666.1:c.3475C>T NP_001394595.1:p.Gln1159Ter nonsense NM_001407667.1:c.3475C>T NP_001394596.1:p.Gln1159Ter nonsense NM_001407668.1:c.3475C>T NP_001394597.1:p.Gln1159Ter nonsense NM_001407669.1:c.3475C>T NP_001394598.1:p.Gln1159Ter nonsense NM_001407670.1:c.3472C>T NP_001394599.1:p.Gln1158Ter nonsense NM_001407671.1:c.3472C>T NP_001394600.1:p.Gln1158Ter nonsense NM_001407672.1:c.3472C>T NP_001394601.1:p.Gln1158Ter nonsense NM_001407673.1:c.3472C>T NP_001394602.1:p.Gln1158Ter nonsense NM_001407674.1:c.3475C>T NP_001394603.1:p.Gln1159Ter nonsense NM_001407675.1:c.3475C>T NP_001394604.1:p.Gln1159Ter nonsense NM_001407676.1:c.3475C>T NP_001394605.1:p.Gln1159Ter nonsense NM_001407677.1:c.3475C>T NP_001394606.1:p.Gln1159Ter nonsense NM_001407678.1:c.3475C>T NP_001394607.1:p.Gln1159Ter nonsense NM_001407679.1:c.3475C>T NP_001394608.1:p.Gln1159Ter nonsense NM_001407680.1:c.3475C>T NP_001394609.1:p.Gln1159Ter nonsense NM_001407681.1:c.3475C>T NP_001394610.1:p.Gln1159Ter nonsense NM_001407682.1:c.3475C>T NP_001394611.1:p.Gln1159Ter nonsense NM_001407683.1:c.3475C>T NP_001394612.1:p.Gln1159Ter nonsense NM_001407684.1:c.3598C>T NP_001394613.1:p.Gln1200Ter nonsense NM_001407685.1:c.3472C>T NP_001394614.1:p.Gln1158Ter nonsense NM_001407686.1:c.3472C>T NP_001394615.1:p.Gln1158Ter nonsense NM_001407687.1:c.3472C>T NP_001394616.1:p.Gln1158Ter nonsense NM_001407688.1:c.3472C>T NP_001394617.1:p.Gln1158Ter nonsense NM_001407689.1:c.3472C>T NP_001394618.1:p.Gln1158Ter nonsense NM_001407690.1:c.3472C>T NP_001394619.1:p.Gln1158Ter nonsense NM_001407691.1:c.3472C>T NP_001394620.1:p.Gln1158Ter nonsense NM_001407692.1:c.3457C>T NP_001394621.1:p.Gln1153Ter nonsense NM_001407694.1:c.3457C>T NP_001394623.1:p.Gln1153Ter nonsense NM_001407695.1:c.3457C>T NP_001394624.1:p.Gln1153Ter nonsense NM_001407696.1:c.3457C>T NP_001394625.1:p.Gln1153Ter nonsense NM_001407697.1:c.3457C>T NP_001394626.1:p.Gln1153Ter nonsense NM_001407698.1:c.3457C>T NP_001394627.1:p.Gln1153Ter nonsense NM_001407724.1:c.3457C>T NP_001394653.1:p.Gln1153Ter nonsense NM_001407725.1:c.3457C>T NP_001394654.1:p.Gln1153Ter nonsense NM_001407726.1:c.3457C>T NP_001394655.1:p.Gln1153Ter nonsense NM_001407727.1:c.3457C>T NP_001394656.1:p.Gln1153Ter nonsense NM_001407728.1:c.3457C>T NP_001394657.1:p.Gln1153Ter nonsense NM_001407729.1:c.3457C>T NP_001394658.1:p.Gln1153Ter nonsense NM_001407730.1:c.3457C>T NP_001394659.1:p.Gln1153Ter nonsense NM_001407731.1:c.3457C>T NP_001394660.1:p.Gln1153Ter nonsense NM_001407732.1:c.3457C>T NP_001394661.1:p.Gln1153Ter nonsense NM_001407733.1:c.3457C>T NP_001394662.1:p.Gln1153Ter nonsense NM_001407734.1:c.3457C>T NP_001394663.1:p.Gln1153Ter nonsense NM_001407735.1:c.3457C>T NP_001394664.1:p.Gln1153Ter nonsense NM_001407736.1:c.3457C>T NP_001394665.1:p.Gln1153Ter nonsense NM_001407737.1:c.3457C>T NP_001394666.1:p.Gln1153Ter nonsense NM_001407738.1:c.3457C>T NP_001394667.1:p.Gln1153Ter nonsense NM_001407739.1:c.3457C>T NP_001394668.1:p.Gln1153Ter nonsense NM_001407740.1:c.3454C>T NP_001394669.1:p.Gln1152Ter nonsense NM_001407741.1:c.3454C>T NP_001394670.1:p.Gln1152Ter nonsense NM_001407742.1:c.3454C>T NP_001394671.1:p.Gln1152Ter nonsense NM_001407743.1:c.3454C>T NP_001394672.1:p.Gln1152Ter nonsense NM_001407744.1:c.3454C>T NP_001394673.1:p.Gln1152Ter nonsense NM_001407745.1:c.3454C>T NP_001394674.1:p.Gln1152Ter nonsense NM_001407746.1:c.3454C>T NP_001394675.1:p.Gln1152Ter nonsense NM_001407747.1:c.3454C>T NP_001394676.1:p.Gln1152Ter nonsense NM_001407748.1:c.3454C>T NP_001394677.1:p.Gln1152Ter nonsense NM_001407749.1:c.3454C>T NP_001394678.1:p.Gln1152Ter nonsense NM_001407750.1:c.3457C>T NP_001394679.1:p.Gln1153Ter nonsense NM_001407751.1:c.3457C>T NP_001394680.1:p.Gln1153Ter nonsense NM_001407752.1:c.3457C>T NP_001394681.1:p.Gln1153Ter nonsense NM_001407838.1:c.3454C>T NP_001394767.1:p.Gln1152Ter nonsense NM_001407839.1:c.3454C>T NP_001394768.1:p.Gln1152Ter nonsense NM_001407841.1:c.3454C>T NP_001394770.1:p.Gln1152Ter nonsense NM_001407842.1:c.3454C>T NP_001394771.1:p.Gln1152Ter nonsense NM_001407843.1:c.3454C>T NP_001394772.1:p.Gln1152Ter nonsense NM_001407844.1:c.3454C>T NP_001394773.1:p.Gln1152Ter nonsense NM_001407845.1:c.3454C>T NP_001394774.1:p.Gln1152Ter nonsense NM_001407846.1:c.3454C>T NP_001394775.1:p.Gln1152Ter nonsense NM_001407847.1:c.3454C>T NP_001394776.1:p.Gln1152Ter nonsense NM_001407848.1:c.3454C>T NP_001394777.1:p.Gln1152Ter nonsense NM_001407849.1:c.3454C>T NP_001394778.1:p.Gln1152Ter nonsense NM_001407850.1:c.3457C>T NP_001394779.1:p.Gln1153Ter nonsense NM_001407851.1:c.3457C>T NP_001394780.1:p.Gln1153Ter nonsense NM_001407852.1:c.3457C>T NP_001394781.1:p.Gln1153Ter nonsense NM_001407853.1:c.3385C>T NP_001394782.1:p.Gln1129Ter nonsense NM_001407854.1:c.3598C>T NP_001394783.1:p.Gln1200Ter nonsense NM_001407858.1:c.3598C>T NP_001394787.1:p.Gln1200Ter nonsense NM_001407859.1:c.3598C>T NP_001394788.1:p.Gln1200Ter nonsense NM_001407860.1:c.3595C>T NP_001394789.1:p.Gln1199Ter nonsense NM_001407861.1:c.3595C>T NP_001394790.1:p.Gln1199Ter nonsense NM_001407862.1:c.3397C>T NP_001394791.1:p.Gln1133Ter nonsense NM_001407863.1:c.3475C>T NP_001394792.1:p.Gln1159Ter nonsense NM_001407874.1:c.3394C>T NP_001394803.1:p.Gln1132Ter nonsense NM_001407875.1:c.3394C>T NP_001394804.1:p.Gln1132Ter nonsense NM_001407879.1:c.3388C>T NP_001394808.1:p.Gln1130Ter nonsense NM_001407881.1:c.3388C>T NP_001394810.1:p.Gln1130Ter nonsense NM_001407882.1:c.3388C>T NP_001394811.1:p.Gln1130Ter nonsense NM_001407884.1:c.3388C>T NP_001394813.1:p.Gln1130Ter nonsense NM_001407885.1:c.3388C>T NP_001394814.1:p.Gln1130Ter nonsense NM_001407886.1:c.3388C>T NP_001394815.1:p.Gln1130Ter nonsense NM_001407887.1:c.3388C>T NP_001394816.1:p.Gln1130Ter nonsense NM_001407889.1:c.3388C>T NP_001394818.1:p.Gln1130Ter nonsense NM_001407894.1:c.3385C>T NP_001394823.1:p.Gln1129Ter nonsense NM_001407895.1:c.3385C>T NP_001394824.1:p.Gln1129Ter nonsense NM_001407896.1:c.3385C>T NP_001394825.1:p.Gln1129Ter nonsense NM_001407897.1:c.3385C>T NP_001394826.1:p.Gln1129Ter nonsense NM_001407898.1:c.3385C>T NP_001394827.1:p.Gln1129Ter nonsense NM_001407899.1:c.3385C>T NP_001394828.1:p.Gln1129Ter nonsense NM_001407900.1:c.3388C>T NP_001394829.1:p.Gln1130Ter nonsense NM_001407902.1:c.3388C>T NP_001394831.1:p.Gln1130Ter nonsense NM_001407904.1:c.3388C>T NP_001394833.1:p.Gln1130Ter nonsense NM_001407906.1:c.3388C>T NP_001394835.1:p.Gln1130Ter nonsense NM_001407907.1:c.3388C>T NP_001394836.1:p.Gln1130Ter nonsense NM_001407908.1:c.3388C>T NP_001394837.1:p.Gln1130Ter nonsense NM_001407909.1:c.3388C>T NP_001394838.1:p.Gln1130Ter nonsense NM_001407910.1:c.3388C>T NP_001394839.1:p.Gln1130Ter nonsense NM_001407915.1:c.3385C>T NP_001394844.1:p.Gln1129Ter nonsense NM_001407916.1:c.3385C>T NP_001394845.1:p.Gln1129Ter nonsense NM_001407917.1:c.3385C>T NP_001394846.1:p.Gln1129Ter nonsense NM_001407918.1:c.3385C>T NP_001394847.1:p.Gln1129Ter nonsense NM_001407919.1:c.3475C>T NP_001394848.1:p.Gln1159Ter nonsense NM_001407920.1:c.3334C>T NP_001394849.1:p.Gln1112Ter nonsense NM_001407921.1:c.3334C>T NP_001394850.1:p.Gln1112Ter nonsense NM_001407922.1:c.3334C>T NP_001394851.1:p.Gln1112Ter nonsense NM_001407923.1:c.3334C>T NP_001394852.1:p.Gln1112Ter nonsense NM_001407924.1:c.3334C>T NP_001394853.1:p.Gln1112Ter nonsense NM_001407925.1:c.3334C>T NP_001394854.1:p.Gln1112Ter nonsense NM_001407926.1:c.3334C>T NP_001394855.1:p.Gln1112Ter nonsense NM_001407927.1:c.3334C>T NP_001394856.1:p.Gln1112Ter nonsense NM_001407928.1:c.3334C>T NP_001394857.1:p.Gln1112Ter nonsense NM_001407929.1:c.3334C>T NP_001394858.1:p.Gln1112Ter nonsense NM_001407930.1:c.3331C>T NP_001394859.1:p.Gln1111Ter nonsense NM_001407931.1:c.3331C>T NP_001394860.1:p.Gln1111Ter nonsense NM_001407932.1:c.3331C>T NP_001394861.1:p.Gln1111Ter nonsense NM_001407933.1:c.3334C>T NP_001394862.1:p.Gln1112Ter nonsense NM_001407934.1:c.3331C>T NP_001394863.1:p.Gln1111Ter nonsense NM_001407935.1:c.3334C>T NP_001394864.1:p.Gln1112Ter nonsense NM_001407936.1:c.3331C>T NP_001394865.1:p.Gln1111Ter nonsense NM_001407937.1:c.3475C>T NP_001394866.1:p.Gln1159Ter nonsense NM_001407938.1:c.3475C>T NP_001394867.1:p.Gln1159Ter nonsense NM_001407939.1:c.3475C>T NP_001394868.1:p.Gln1159Ter nonsense NM_001407940.1:c.3472C>T NP_001394869.1:p.Gln1158Ter nonsense NM_001407941.1:c.3472C>T NP_001394870.1:p.Gln1158Ter nonsense NM_001407942.1:c.3457C>T NP_001394871.1:p.Gln1153Ter nonsense NM_001407943.1:c.3454C>T NP_001394872.1:p.Gln1152Ter nonsense NM_001407944.1:c.3457C>T NP_001394873.1:p.Gln1153Ter nonsense NM_001407945.1:c.3457C>T NP_001394874.1:p.Gln1153Ter nonsense NM_001407946.1:c.3265C>T NP_001394875.1:p.Gln1089Ter nonsense NM_001407947.1:c.3265C>T NP_001394876.1:p.Gln1089Ter nonsense NM_001407948.1:c.3265C>T NP_001394877.1:p.Gln1089Ter nonsense NM_001407949.1:c.3265C>T NP_001394878.1:p.Gln1089Ter nonsense NM_001407950.1:c.3265C>T NP_001394879.1:p.Gln1089Ter nonsense NM_001407951.1:c.3265C>T NP_001394880.1:p.Gln1089Ter nonsense NM_001407952.1:c.3265C>T NP_001394881.1:p.Gln1089Ter nonsense NM_001407953.1:c.3265C>T NP_001394882.1:p.Gln1089Ter nonsense NM_001407954.1:c.3262C>T NP_001394883.1:p.Gln1088Ter nonsense NM_001407955.1:c.3262C>T NP_001394884.1:p.Gln1088Ter nonsense NM_001407956.1:c.3262C>T NP_001394885.1:p.Gln1088Ter nonsense NM_001407957.1:c.3265C>T NP_001394886.1:p.Gln1089Ter nonsense NM_001407958.1:c.3262C>T NP_001394887.1:p.Gln1088Ter nonsense NM_001407959.1:c.3217C>T NP_001394888.1:p.Gln1073Ter nonsense NM_001407960.1:c.3217C>T NP_001394889.1:p.Gln1073Ter nonsense NM_001407962.1:c.3214C>T NP_001394891.1:p.Gln1072Ter nonsense NM_001407963.1:c.3217C>T NP_001394892.1:p.Gln1073Ter nonsense NM_001407964.1:c.3454C>T NP_001394893.1:p.Gln1152Ter nonsense NM_001407965.1:c.3094C>T NP_001394894.1:p.Gln1032Ter nonsense NM_001407966.1:c.2710C>T NP_001394895.1:p.Gln904Ter nonsense NM_001407967.1:c.2710C>T NP_001394896.1:p.Gln904Ter nonsense NM_001407968.1:c.994C>T NP_001394897.1:p.Gln332Ter nonsense NM_001407969.1:c.994C>T NP_001394898.1:p.Gln332Ter nonsense NM_001407970.1:c.788-901C>T intron variant NM_001407971.1:c.788-901C>T intron variant NM_001407972.1:c.785-901C>T intron variant NM_001407973.1:c.788-901C>T intron variant NM_001407974.1:c.788-901C>T intron variant NM_001407975.1:c.788-901C>T intron variant NM_001407976.1:c.788-901C>T intron variant NM_001407977.1:c.788-901C>T intron variant NM_001407978.1:c.788-901C>T intron variant NM_001407979.1:c.788-901C>T intron variant NM_001407980.1:c.788-901C>T intron variant NM_001407981.1:c.788-901C>T intron variant NM_001407982.1:c.788-901C>T intron variant NM_001407983.1:c.788-901C>T intron variant NM_001407984.1:c.785-901C>T intron variant NM_001407985.1:c.785-901C>T intron variant NM_001407986.1:c.785-901C>T intron variant NM_001407990.1:c.788-901C>T intron variant NM_001407991.1:c.785-901C>T intron variant NM_001407992.1:c.785-901C>T intron variant NM_001407993.1:c.788-901C>T intron variant NM_001408392.1:c.785-901C>T intron variant NM_001408396.1:c.785-901C>T intron variant NM_001408397.1:c.785-901C>T intron variant NM_001408398.1:c.785-901C>T intron variant NM_001408399.1:c.785-901C>T intron variant NM_001408400.1:c.785-901C>T intron variant NM_001408401.1:c.785-901C>T intron variant NM_001408402.1:c.785-901C>T intron variant NM_001408403.1:c.788-901C>T intron variant NM_001408404.1:c.788-901C>T intron variant NM_001408406.1:c.791-910C>T intron variant NM_001408407.1:c.785-901C>T intron variant NM_001408408.1:c.779-901C>T intron variant NM_001408409.1:c.710-901C>T intron variant NM_001408410.1:c.647-901C>T intron variant NM_001408411.1:c.710-901C>T intron variant NM_001408412.1:c.710-901C>T intron variant NM_001408413.1:c.707-901C>T intron variant NM_001408414.1:c.710-901C>T intron variant NM_001408415.1:c.710-901C>T intron variant NM_001408416.1:c.707-901C>T intron variant NM_001408418.1:c.671-901C>T intron variant NM_001408419.1:c.671-901C>T intron variant NM_001408420.1:c.671-901C>T intron variant NM_001408421.1:c.668-901C>T intron variant NM_001408422.1:c.671-901C>T intron variant NM_001408423.1:c.671-901C>T intron variant NM_001408424.1:c.668-901C>T intron variant NM_001408425.1:c.665-901C>T intron variant NM_001408426.1:c.665-901C>T intron variant NM_001408427.1:c.665-901C>T intron variant NM_001408428.1:c.665-901C>T intron variant NM_001408429.1:c.665-901C>T intron variant NM_001408430.1:c.665-901C>T intron variant NM_001408431.1:c.668-901C>T intron variant NM_001408432.1:c.662-901C>T intron variant NM_001408433.1:c.662-901C>T intron variant NM_001408434.1:c.662-901C>T intron variant NM_001408435.1:c.662-901C>T intron variant NM_001408436.1:c.665-901C>T intron variant NM_001408437.1:c.665-901C>T intron variant NM_001408438.1:c.665-901C>T intron variant NM_001408439.1:c.665-901C>T intron variant NM_001408440.1:c.665-901C>T intron variant NM_001408441.1:c.665-901C>T intron variant NM_001408442.1:c.665-901C>T intron variant NM_001408443.1:c.665-901C>T intron variant NM_001408444.1:c.665-901C>T intron variant NM_001408445.1:c.662-901C>T intron variant NM_001408446.1:c.662-901C>T intron variant NM_001408447.1:c.662-901C>T intron variant NM_001408448.1:c.662-901C>T intron variant NM_001408450.1:c.662-901C>T intron variant NM_001408451.1:c.653-901C>T intron variant NM_001408452.1:c.647-901C>T intron variant NM_001408453.1:c.647-901C>T intron variant NM_001408454.1:c.647-901C>T intron variant NM_001408455.1:c.647-901C>T intron variant NM_001408456.1:c.647-901C>T intron variant NM_001408457.1:c.647-901C>T intron variant NM_001408458.1:c.647-901C>T intron variant NM_001408459.1:c.647-901C>T intron variant NM_001408460.1:c.647-901C>T intron variant NM_001408461.1:c.647-901C>T intron variant NM_001408462.1:c.644-901C>T intron variant NM_001408463.1:c.644-901C>T intron variant NM_001408464.1:c.644-901C>T intron variant NM_001408465.1:c.644-901C>T intron variant NM_001408466.1:c.647-901C>T intron variant NM_001408467.1:c.647-901C>T intron variant NM_001408468.1:c.644-901C>T intron variant NM_001408469.1:c.647-901C>T intron variant NM_001408470.1:c.644-901C>T intron variant NM_001408472.1:c.788-901C>T intron variant NM_001408473.1:c.785-901C>T intron variant NM_001408474.1:c.587-901C>T intron variant NM_001408475.1:c.584-901C>T intron variant NM_001408476.1:c.587-901C>T intron variant NM_001408478.1:c.578-901C>T intron variant NM_001408479.1:c.578-901C>T intron variant NM_001408480.1:c.578-901C>T intron variant NM_001408481.1:c.578-901C>T intron variant NM_001408482.1:c.578-901C>T intron variant NM_001408483.1:c.578-901C>T intron variant NM_001408484.1:c.578-901C>T intron variant NM_001408485.1:c.578-901C>T intron variant NM_001408489.1:c.578-901C>T intron variant NM_001408490.1:c.575-901C>T intron variant NM_001408491.1:c.575-901C>T intron variant NM_001408492.1:c.578-901C>T intron variant NM_001408493.1:c.575-901C>T intron variant NM_001408494.1:c.548-901C>T intron variant NM_001408495.1:c.545-901C>T intron variant NM_001408496.1:c.524-901C>T intron variant NM_001408497.1:c.524-901C>T intron variant NM_001408498.1:c.524-901C>T intron variant NM_001408499.1:c.524-901C>T intron variant NM_001408500.1:c.524-901C>T intron variant NM_001408501.1:c.524-901C>T intron variant NM_001408502.1:c.455-901C>T intron variant NM_001408503.1:c.521-901C>T intron variant NM_001408504.1:c.521-901C>T intron variant NM_001408505.1:c.521-901C>T intron variant NM_001408506.1:c.461-901C>T intron variant NM_001408507.1:c.461-901C>T intron variant NM_001408508.1:c.452-901C>T intron variant NM_001408509.1:c.452-901C>T intron variant NM_001408510.1:c.407-901C>T intron variant NM_001408511.1:c.404-901C>T intron variant NM_001408512.1:c.284-901C>T intron variant NM_001408513.1:c.578-901C>T intron variant NM_001408514.1:c.578-901C>T intron variant NM_007297.4:c.3457C>T NP_009228.2:p.Gln1153Ter nonsense NM_007298.4:c.788-901C>T intron variant NM_007299.4:c.788-901C>T intron variant NM_007300.4:c.3598C>T NP_009231.2:p.Gln1200Ter nonsense NR_027676.1:n.3734C>T NC_000017.11:g.43091933G>A NC_000017.10:g.41243950G>A NG_005905.2:g.126051C>T NG_087068.1:g.915G>A LRG_292:g.126051C>T LRG_292t1:c.3598C>T LRG_292p1:p.Gln1200Ter U14680.1:n.3717C>T - Protein change
- Q1200*, Q1153*, Q1032*, Q1088*, Q1089*, Q1111*, Q1112*, Q1152*, Q1159*, Q904*, Q1072*, Q1073*, Q1130*, Q1132*, Q1174*, Q1197*, Q1199*, Q1129*, Q1133*, Q1158*, Q1173*, Q332*
- Other names
- p.Q1200*:CAG>TAG
- 3717C>T
- Canonical SPDI
- NC_000017.11:43091932: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.
The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00000
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 |
13021 | 14825 | |
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) |
criteria provided, multiple submitters, no conflicts
|
Jan 4, 2024 | RCV000048245.25 | |
Pathogenic (9) |
reviewed by expert panel
|
Apr 22, 2016 | RCV000077552.24 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Aug 21, 2023 | RCV000131819.21 | |
Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
|
Jul 1, 2024 | RCV000159977.21 | |
Pathogenic (1) |
criteria provided, single submitter
|
Oct 31, 2018 | RCV000763003.10 | |
Pathogenic (1) |
criteria provided, single submitter
|
Jul 2, 2018 | RCV001001611.15 | |
BRCA1-related disorder
|
Pathogenic (1) |
criteria provided, single submitter
|
Sep 1, 2022 | RCV004554663.1 |
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
(Apr 22, 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: SCV000282310.1
First in ClinVar: Jun 24, 2016 Last updated: Jun 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
Pathogenic
(Nov 03, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Michigan Medical Genetics Laboratories, University of Michigan
Accession: SCV000195922.1
First in ClinVar: May 06, 2016 Last updated: May 06, 2016 |
Tissue: Blood
|
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Pathogenic
(Oct 31, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S
Affected status: unknown
Allele origin:
unknown
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV000893448.1
First in ClinVar: Mar 31, 2019 Last updated: Mar 31, 2019 |
|
|
Pathogenic
(Jul 02, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001159056.1
First in ClinVar: Feb 10, 2020 Last updated: Feb 10, 2020 |
Comment:
The BRCA1 c.3598C>T; p.Gln1200Ter variant (rs62625307), also known as 3717C>T, has been described in the literature in individuals with hereditary breast and ovarian cancer (Alemar … (more)
The BRCA1 c.3598C>T; p.Gln1200Ter variant (rs62625307), also known as 3717C>T, has been described in the literature in individuals with hereditary breast and ovarian cancer (Alemar 2016, Rashid 2016, Tartaglini 1998, Walsh 2011). It is reported as pathogenic by multiple laboratories in ClinVar (Variation ID: 54929) and is only observed on 1 allele in the Genome Aggregation Database. This variant introduces a premature termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered pathogenic. References: Alemar B et al. Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations. Cancer Genet. 2016 Sep;209(9):417-422. Rashid M et al. High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients. BMC Cancer. 2016 Aug 23;16(1):673. Tartaglini E et al. Three novel germline BRCA1 mutations in early-onset breast and ovarian cancer families. Hum Mutat. 1998;Suppl 1:S163-6. Walsh T et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A. 2011;108(44):18032-7. (less)
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Pathogenic
(Feb 12, 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
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000699043.1
First in ClinVar: Dec 26, 2017 Last updated: Dec 26, 2017 |
Comment:
Variant summary: BRCA1 c.3598C>T (p.Gln1200X) 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.3598C>T (p.Gln1200X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 4e-06 in 250916 control chromosomes (gnomAD). c.3598C>T has been reported in the literature in multiple individuals and families affected with Hereditary Breast And Ovarian Cancer Syndrome (e.g. Tartaglini_1998, Liede_2002, Judkins_2005, Latimer_2005, Beetstra_2006, John_2007, Torres-Mejia_2015, Rebbeck_2018). These data indicate that the variant is very likely to be associated with disease. Eleven ClinVar submitters including an expert panel (ENIGMA) (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
|
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Pathogenic
(Jul 02, 2018)
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criteria provided, single submitter
Method: clinical testing
|
Hereditary breast and ovarian cancer syndrome
Affected status: unknown
Allele origin:
unknown
|
Mendelics
Accession: SCV000839252.2
First in ClinVar: Oct 10, 2018 Last updated: Dec 11, 2022 |
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Pathogenic
(Mar 03, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000488352.2
First in ClinVar: Nov 05, 2016 Last updated: Dec 24, 2022 |
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Pathogenic
(Jun 30, 2023)
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criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000210149.15
First in ClinVar: Feb 24, 2015 Last updated: Jul 08, 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; Not … (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; Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 3717C>T; This variant is associated with the following publications: (PMID: 27221827, 16162645, 29161300, 18159056, 16267036, 32211327, 29922827, 28888541, 24333842, 25525159, 9452076, 22006311, 25682074, 25716084, 25371446, 25085752, 22711857, 27425403, 27553291, 28127413, 29061967, 28985766, 15955237, 29446198, 29907814, 30706980, 30720243, 31528241, 31454914, 31825140, 31742824, 33758026, 35264596, 35875314, 36385461, 35377489) (less)
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Pathogenic
(Sep 01, 2022)
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criteria provided, single submitter
Method: clinical testing
|
BRCA1-related condition
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV004119878.1
First in ClinVar: Nov 20, 2023 Last updated: Nov 20, 2023 |
Comment:
The BRCA1 c.3598C>T variant is predicted to result in premature protein termination (p.Gln1200*). This variant has been reported to be causative for breast and ovarian … (more)
The BRCA1 c.3598C>T variant is predicted to result in premature protein termination (p.Gln1200*). This variant has been reported to be causative for breast and ovarian cancer (Walsh et al. 2011. PubMed ID: 22006311; Alsop et al. 2012. PubMed ID: 22711857, Supplementary Table 2; Wong-Brown et al. 2015. PubMed ID: 25682074). This variant is reported in 0.0033% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-41243950-G-A). This variant is interpreted as pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/54929/evidence/). Nonsense variants in BRCA1 are expected to be pathogenic. This variant is interpreted as pathogenic. (less)
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Pathogenic
(Oct 13, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004212721.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
|
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Pathogenic
(Oct 04, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000296303.6
First in ClinVar: Jun 24, 2016 Last updated: Jan 06, 2024 |
Comment:
This nonsense variant causes the premature termination of BRCA1 protein synthesis. This variant has been reported in individuals affected with breast or fallopian tube cancer … (more)
This nonsense variant causes the premature termination of BRCA1 protein synthesis. This variant has been reported in individuals affected with breast or fallopian tube cancer in the published literature (PMID: 27553291 (2016), 25371446 (2014), 22006311 (2011), 18159056 (2007)). Based on the available information, this variant is classified as pathogenic. (less)
|
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Pathogenic
(Sep 21, 2022)
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criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Revvity Omics, Revvity
Accession: SCV003809779.2
First in ClinVar: Mar 04, 2023 Last updated: Feb 04, 2024 |
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Pathogenic
(Aug 21, 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
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000292158.5
First in ClinVar: Jul 08, 2016 Last updated: Feb 14, 2024 |
Comment:
This variant changes 1 nucleotide in exon 10 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 10 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 been reported in at least 10 individuals affected with breast and ovarian cancer (PMID: 9452076, 12181777, 15955237, 16162645, 18159056, 22006311, 22711857, 25371446, 25682074, 27553291, 33606809). This variant has been identified in 1/250916 chromosomes 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)
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Pathogenic
(Jan 04, 2024)
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criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
All of Us Research Program, National Institutes of Health
Accession: SCV004817782.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
|
Comment:
This variant changes 1 nucleotide in exon 10 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 10 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 been reported in over ten individuals and families affected with breast and ovarian cancer (PMID: 9452076, 12181777, 15955237, 16162645, 18159056, 22006311, 22711857, 25371446, 25682074, 27425403, 27553291). This variant has been identified in 1/250916 chromosomes 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)
Number of individuals with the variant: 3
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Pathogenic
(Jul 01, 2024)
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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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CeGaT Center for Human Genetics Tuebingen
Accession: SCV005092460.1
First in ClinVar: Aug 04, 2024 Last updated: Aug 04, 2024 |
Comment:
BRCA1: PVS1, PM2, PS4:Moderate
Number of individuals with the variant: 1
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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: SCV000325695.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(Jan 04, 2024)
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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: SCV000076258.14
First in ClinVar: Jul 03, 2013 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Gln1200*) 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.Gln1200*) 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 present in population databases (rs62625307, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with breast and ovarian cancer (PMID: 9452076, 22006311, 22711857, 24333842, 25682074). This variant is also known as 3717C>T. ClinVar contains an entry for this variant (Variation ID: 54929). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Jan 05, 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
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Ambry Genetics
Accession: SCV000186874.8
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
The p.Q1200* pathogenic mutation (also known as c.3598C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at … (more)
The p.Q1200* pathogenic mutation (also known as c.3598C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at nucleotide position 3598. This changes the amino acid from a glutamine to a stop codon within coding exon 9. This mutation has been identified in multiple individuals/families with hereditary breast and ovarian cancer (HBOC) syndrome (Tartaglini E et al. Hum. Mutat. 1998;Suppl 1:S163-6; Liede A et al. Am J Hum Genet, 2002 Sep;71:595-606; Latimer JJ et al. BMC Med. Genet. 2005 Jun;6:26; John EM et al. JAMA, 2007 Dec;298:2869-76; Walsh T et al. Proc. Natl. Acad. Sci. U.S.A. 2011 Nov;108:18032-7; Alsop K et al. J Clin Oncol, 2012 Jul;30:2654-63; Wong-Brown MW et al. Breast Cancer Res Treat, 2015 Feb;150:71-80; Torres-Mejía G et al. Cancer Epidemiol. Biomarkers Prev. 2015 Mar;24:498-505; Villarreal-Garza C et al. Breast Cancer Res Treat, 2015 Apr;150:389-94; Rashid MU et al. BMC Cancer. 2016 08;16:673; Alemar B et al. Cancer Genet. 2016 Sep;209:417-422; Rebbeck TR et al. Hum Mutat, 2018 05;39:593-620; Shao D et al. Cancer Sci, 2020 Feb;111:647-657; Sandoval RL et al. PLoS One, 2021 Feb;16:e0247363). Of note, this alteration is also designated as 3717C>T in published literature. 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
(Jan 26, 2012)
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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: SCV000109353.5
First in ClinVar: Dec 23, 2013 Last updated: Jun 24, 2016 |
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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: SCV000587320.1 First in ClinVar: Aug 05, 2017 Last updated: Aug 05, 2017 |
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Pathogenic
(Sep 15, 2021)
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no assertion criteria provided
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.
Accession: SCV001950158.1
First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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Pathogenic
(Mar 02, 2020)
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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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BRCAlab, Lund University
Accession: SCV004244039.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
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Pathogenic
(Dec 30, 1999)
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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: SCV000144801.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 6
Observation 2:
Number of individuals with the variant: 3
Geographic origin: Western European
Observation 3:
Number of individuals with the variant: 1
Ethnicity/Population group: Central/Eastern European
Observation 4:
Number of individuals with the variant: 1
Ethnicity/Population group: Irish, Scottish
Observation 5:
Number of individuals with the variant: 1
Ethnicity/Population group: Near Eastern
Observation 6:
Number of individuals with the variant: 7
Ethnicity/Population group: Western European
Observation 7:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European, Central/Eastern European
Observation 8:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European, Irish, Scottish, Welsh
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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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Germline molecular data in hereditary breast cancer in Brazil: Lessons from a large single-center analysis. | Sandoval RL | PloS one | 2021 | PMID: 33606809 |
Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high-risk Chinese individuals. | Shao D | Cancer science | 2020 | PMID: 31742824 |
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population? | Alemar B | PloS one | 2017 | PMID: 29161300 |
High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients. | Rashid MU | BMC cancer | 2016 | PMID: 27553291 |
Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations. | Alemar B | Cancer genetics | 2016 | PMID: 27425403 |
The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast cancer. | Villarreal-Garza C | Breast cancer research and treatment | 2015 | PMID: 25716084 |
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 |
Recurrent BRCA1 and BRCA2 mutations in Mexican women with breast cancer. | Torres-Mejía G | Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 2015 | PMID: 25371446 |
Outcome of unexpected adnexal neoplasia discovered during risk reduction salpingo-oophorectomy in women with germ-line BRCA1 or BRCA2 mutations. | Conner JR | Gynecologic oncology | 2014 | PMID: 24333842 |
BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group. | Alsop K | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2012 | PMID: 22711857 |
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. | Walsh T | Proceedings of the National Academy of Sciences of the United States of America | 2011 | PMID: 22006311 |
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 of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups. | John EM | JAMA | 2007 | PMID: 18159056 |
Lymphocytes of BRCA1 and BRCA2 germ-line mutation carriers, with or without breast cancer, are not abnormally sensitive to the chromosome damaging effect of moderate folate deficiency. | Beetstra S | Carcinogenesis | 2006 | PMID: 16162645 |
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 |
Haploinsufficiency for BRCA1 is associated with normal levels of DNA nucleotide excision repair in breast tissue and blood lymphocytes. | Latimer JJ | BMC medical genetics | 2005 | PMID: 15955237 |
Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan. | Liede A | American journal of human genetics | 2002 | PMID: 12181777 |
Three novel germline BRCA1 mutations in early-onset breast and ovarian cancer families. | Tartaglini E | Human mutation | 1998 | PMID: 9452076 |
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Text-mined citations for rs62625307 ...
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.