ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3718C>T (p.Gln1240Ter)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.3718C>T (p.Gln1240Ter)
Variation ID: 54978 Accession: VCV000054978.50
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43091813 (GRCh38) [ NCBI UCSC ] 17: 41243830 (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.3718C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gln1240Ter nonsense NM_001407571.1:c.3505C>T NP_001394500.1:p.Gln1169Ter nonsense NM_001407581.1:c.3718C>T NP_001394510.1:p.Gln1240Ter nonsense NM_001407582.1:c.3718C>T NP_001394511.1:p.Gln1240Ter nonsense NM_001407583.1:c.3718C>T NP_001394512.1:p.Gln1240Ter nonsense NM_001407585.1:c.3718C>T NP_001394514.1:p.Gln1240Ter nonsense NM_001407587.1:c.3715C>T NP_001394516.1:p.Gln1239Ter nonsense NM_001407590.1:c.3715C>T NP_001394519.1:p.Gln1239Ter nonsense NM_001407591.1:c.3715C>T NP_001394520.1:p.Gln1239Ter nonsense NM_001407593.1:c.3718C>T NP_001394522.1:p.Gln1240Ter nonsense NM_001407594.1:c.3718C>T NP_001394523.1:p.Gln1240Ter nonsense NM_001407596.1:c.3718C>T NP_001394525.1:p.Gln1240Ter nonsense NM_001407597.1:c.3718C>T NP_001394526.1:p.Gln1240Ter nonsense NM_001407598.1:c.3718C>T NP_001394527.1:p.Gln1240Ter nonsense NM_001407602.1:c.3718C>T NP_001394531.1:p.Gln1240Ter nonsense NM_001407603.1:c.3718C>T NP_001394532.1:p.Gln1240Ter nonsense NM_001407605.1:c.3718C>T NP_001394534.1:p.Gln1240Ter nonsense NM_001407610.1:c.3715C>T NP_001394539.1:p.Gln1239Ter nonsense NM_001407611.1:c.3715C>T NP_001394540.1:p.Gln1239Ter nonsense NM_001407612.1:c.3715C>T NP_001394541.1:p.Gln1239Ter nonsense NM_001407613.1:c.3715C>T NP_001394542.1:p.Gln1239Ter nonsense NM_001407614.1:c.3715C>T NP_001394543.1:p.Gln1239Ter nonsense NM_001407615.1:c.3715C>T NP_001394544.1:p.Gln1239Ter nonsense NM_001407616.1:c.3718C>T NP_001394545.1:p.Gln1240Ter nonsense NM_001407617.1:c.3718C>T NP_001394546.1:p.Gln1240Ter nonsense NM_001407618.1:c.3718C>T NP_001394547.1:p.Gln1240Ter nonsense NM_001407619.1:c.3718C>T NP_001394548.1:p.Gln1240Ter nonsense NM_001407620.1:c.3718C>T NP_001394549.1:p.Gln1240Ter nonsense NM_001407621.1:c.3718C>T NP_001394550.1:p.Gln1240Ter nonsense NM_001407622.1:c.3718C>T NP_001394551.1:p.Gln1240Ter nonsense NM_001407623.1:c.3718C>T NP_001394552.1:p.Gln1240Ter nonsense NM_001407624.1:c.3718C>T NP_001394553.1:p.Gln1240Ter nonsense NM_001407625.1:c.3718C>T NP_001394554.1:p.Gln1240Ter nonsense NM_001407626.1:c.3718C>T NP_001394555.1:p.Gln1240Ter nonsense NM_001407627.1:c.3715C>T NP_001394556.1:p.Gln1239Ter nonsense NM_001407628.1:c.3715C>T NP_001394557.1:p.Gln1239Ter nonsense NM_001407629.1:c.3715C>T NP_001394558.1:p.Gln1239Ter nonsense NM_001407630.1:c.3715C>T NP_001394559.1:p.Gln1239Ter nonsense NM_001407631.1:c.3715C>T NP_001394560.1:p.Gln1239Ter nonsense NM_001407632.1:c.3715C>T NP_001394561.1:p.Gln1239Ter nonsense NM_001407633.1:c.3715C>T NP_001394562.1:p.Gln1239Ter nonsense NM_001407634.1:c.3715C>T NP_001394563.1:p.Gln1239Ter nonsense NM_001407635.1:c.3715C>T NP_001394564.1:p.Gln1239Ter nonsense NM_001407636.1:c.3715C>T NP_001394565.1:p.Gln1239Ter nonsense NM_001407637.1:c.3715C>T NP_001394566.1:p.Gln1239Ter nonsense NM_001407638.1:c.3715C>T NP_001394567.1:p.Gln1239Ter nonsense NM_001407639.1:c.3718C>T NP_001394568.1:p.Gln1240Ter nonsense NM_001407640.1:c.3718C>T NP_001394569.1:p.Gln1240Ter nonsense NM_001407641.1:c.3718C>T NP_001394570.1:p.Gln1240Ter nonsense NM_001407642.1:c.3718C>T NP_001394571.1:p.Gln1240Ter nonsense NM_001407644.1:c.3715C>T NP_001394573.1:p.Gln1239Ter nonsense NM_001407645.1:c.3715C>T NP_001394574.1:p.Gln1239Ter nonsense NM_001407646.1:c.3709C>T NP_001394575.1:p.Gln1237Ter nonsense NM_001407647.1:c.3709C>T NP_001394576.1:p.Gln1237Ter nonsense NM_001407648.1:c.3595C>T NP_001394577.1:p.Gln1199Ter nonsense NM_001407649.1:c.3592C>T NP_001394578.1:p.Gln1198Ter nonsense NM_001407652.1:c.3718C>T NP_001394581.1:p.Gln1240Ter nonsense NM_001407653.1:c.3640C>T NP_001394582.1:p.Gln1214Ter nonsense NM_001407654.1:c.3640C>T NP_001394583.1:p.Gln1214Ter nonsense NM_001407655.1:c.3640C>T NP_001394584.1:p.Gln1214Ter nonsense NM_001407656.1:c.3640C>T NP_001394585.1:p.Gln1214Ter nonsense NM_001407657.1:c.3640C>T NP_001394586.1:p.Gln1214Ter nonsense NM_001407658.1:c.3640C>T NP_001394587.1:p.Gln1214Ter nonsense NM_001407659.1:c.3637C>T NP_001394588.1:p.Gln1213Ter nonsense NM_001407660.1:c.3637C>T NP_001394589.1:p.Gln1213Ter nonsense NM_001407661.1:c.3637C>T NP_001394590.1:p.Gln1213Ter nonsense NM_001407662.1:c.3637C>T NP_001394591.1:p.Gln1213Ter nonsense NM_001407663.1:c.3640C>T NP_001394592.1:p.Gln1214Ter nonsense NM_001407664.1:c.3595C>T NP_001394593.1:p.Gln1199Ter nonsense NM_001407665.1:c.3595C>T NP_001394594.1:p.Gln1199Ter nonsense NM_001407666.1:c.3595C>T NP_001394595.1:p.Gln1199Ter nonsense NM_001407667.1:c.3595C>T NP_001394596.1:p.Gln1199Ter nonsense NM_001407668.1:c.3595C>T NP_001394597.1:p.Gln1199Ter nonsense NM_001407669.1:c.3595C>T NP_001394598.1:p.Gln1199Ter nonsense NM_001407670.1:c.3592C>T NP_001394599.1:p.Gln1198Ter nonsense NM_001407671.1:c.3592C>T NP_001394600.1:p.Gln1198Ter nonsense NM_001407672.1:c.3592C>T NP_001394601.1:p.Gln1198Ter nonsense NM_001407673.1:c.3592C>T NP_001394602.1:p.Gln1198Ter nonsense NM_001407674.1:c.3595C>T NP_001394603.1:p.Gln1199Ter nonsense NM_001407675.1:c.3595C>T NP_001394604.1:p.Gln1199Ter nonsense NM_001407676.1:c.3595C>T NP_001394605.1:p.Gln1199Ter nonsense NM_001407677.1:c.3595C>T NP_001394606.1:p.Gln1199Ter nonsense NM_001407678.1:c.3595C>T NP_001394607.1:p.Gln1199Ter nonsense NM_001407679.1:c.3595C>T NP_001394608.1:p.Gln1199Ter nonsense NM_001407680.1:c.3595C>T NP_001394609.1:p.Gln1199Ter nonsense NM_001407681.1:c.3595C>T NP_001394610.1:p.Gln1199Ter nonsense NM_001407682.1:c.3595C>T NP_001394611.1:p.Gln1199Ter nonsense NM_001407683.1:c.3595C>T NP_001394612.1:p.Gln1199Ter nonsense NM_001407684.1:c.3718C>T NP_001394613.1:p.Gln1240Ter nonsense NM_001407685.1:c.3592C>T NP_001394614.1:p.Gln1198Ter nonsense NM_001407686.1:c.3592C>T NP_001394615.1:p.Gln1198Ter nonsense NM_001407687.1:c.3592C>T NP_001394616.1:p.Gln1198Ter nonsense NM_001407688.1:c.3592C>T NP_001394617.1:p.Gln1198Ter nonsense NM_001407689.1:c.3592C>T NP_001394618.1:p.Gln1198Ter nonsense NM_001407690.1:c.3592C>T NP_001394619.1:p.Gln1198Ter nonsense NM_001407691.1:c.3592C>T NP_001394620.1:p.Gln1198Ter nonsense NM_001407692.1:c.3577C>T NP_001394621.1:p.Gln1193Ter nonsense NM_001407694.1:c.3577C>T NP_001394623.1:p.Gln1193Ter nonsense NM_001407695.1:c.3577C>T NP_001394624.1:p.Gln1193Ter nonsense NM_001407696.1:c.3577C>T NP_001394625.1:p.Gln1193Ter nonsense NM_001407697.1:c.3577C>T NP_001394626.1:p.Gln1193Ter nonsense NM_001407698.1:c.3577C>T NP_001394627.1:p.Gln1193Ter nonsense NM_001407724.1:c.3577C>T NP_001394653.1:p.Gln1193Ter nonsense NM_001407725.1:c.3577C>T NP_001394654.1:p.Gln1193Ter nonsense NM_001407726.1:c.3577C>T NP_001394655.1:p.Gln1193Ter nonsense NM_001407727.1:c.3577C>T NP_001394656.1:p.Gln1193Ter nonsense NM_001407728.1:c.3577C>T NP_001394657.1:p.Gln1193Ter nonsense NM_001407729.1:c.3577C>T NP_001394658.1:p.Gln1193Ter nonsense NM_001407730.1:c.3577C>T NP_001394659.1:p.Gln1193Ter nonsense NM_001407731.1:c.3577C>T NP_001394660.1:p.Gln1193Ter nonsense NM_001407732.1:c.3577C>T NP_001394661.1:p.Gln1193Ter nonsense NM_001407733.1:c.3577C>T NP_001394662.1:p.Gln1193Ter nonsense NM_001407734.1:c.3577C>T NP_001394663.1:p.Gln1193Ter nonsense NM_001407735.1:c.3577C>T NP_001394664.1:p.Gln1193Ter nonsense NM_001407736.1:c.3577C>T NP_001394665.1:p.Gln1193Ter nonsense NM_001407737.1:c.3577C>T NP_001394666.1:p.Gln1193Ter nonsense NM_001407738.1:c.3577C>T NP_001394667.1:p.Gln1193Ter nonsense NM_001407739.1:c.3577C>T NP_001394668.1:p.Gln1193Ter nonsense NM_001407740.1:c.3574C>T NP_001394669.1:p.Gln1192Ter nonsense NM_001407741.1:c.3574C>T NP_001394670.1:p.Gln1192Ter nonsense NM_001407742.1:c.3574C>T NP_001394671.1:p.Gln1192Ter nonsense NM_001407743.1:c.3574C>T NP_001394672.1:p.Gln1192Ter nonsense NM_001407744.1:c.3574C>T NP_001394673.1:p.Gln1192Ter nonsense NM_001407745.1:c.3574C>T NP_001394674.1:p.Gln1192Ter nonsense NM_001407746.1:c.3574C>T NP_001394675.1:p.Gln1192Ter nonsense NM_001407747.1:c.3574C>T NP_001394676.1:p.Gln1192Ter nonsense NM_001407748.1:c.3574C>T NP_001394677.1:p.Gln1192Ter nonsense NM_001407749.1:c.3574C>T NP_001394678.1:p.Gln1192Ter nonsense NM_001407750.1:c.3577C>T NP_001394679.1:p.Gln1193Ter nonsense NM_001407751.1:c.3577C>T NP_001394680.1:p.Gln1193Ter nonsense NM_001407752.1:c.3577C>T NP_001394681.1:p.Gln1193Ter nonsense NM_001407838.1:c.3574C>T NP_001394767.1:p.Gln1192Ter nonsense NM_001407839.1:c.3574C>T NP_001394768.1:p.Gln1192Ter nonsense NM_001407841.1:c.3574C>T NP_001394770.1:p.Gln1192Ter nonsense NM_001407842.1:c.3574C>T NP_001394771.1:p.Gln1192Ter nonsense NM_001407843.1:c.3574C>T NP_001394772.1:p.Gln1192Ter nonsense NM_001407844.1:c.3574C>T NP_001394773.1:p.Gln1192Ter nonsense NM_001407845.1:c.3574C>T NP_001394774.1:p.Gln1192Ter nonsense NM_001407846.1:c.3574C>T NP_001394775.1:p.Gln1192Ter nonsense NM_001407847.1:c.3574C>T NP_001394776.1:p.Gln1192Ter nonsense NM_001407848.1:c.3574C>T NP_001394777.1:p.Gln1192Ter nonsense NM_001407849.1:c.3574C>T NP_001394778.1:p.Gln1192Ter nonsense NM_001407850.1:c.3577C>T NP_001394779.1:p.Gln1193Ter nonsense NM_001407851.1:c.3577C>T NP_001394780.1:p.Gln1193Ter nonsense NM_001407852.1:c.3577C>T NP_001394781.1:p.Gln1193Ter nonsense NM_001407853.1:c.3505C>T NP_001394782.1:p.Gln1169Ter nonsense NM_001407854.1:c.3718C>T NP_001394783.1:p.Gln1240Ter nonsense NM_001407858.1:c.3718C>T NP_001394787.1:p.Gln1240Ter nonsense NM_001407859.1:c.3718C>T NP_001394788.1:p.Gln1240Ter nonsense NM_001407860.1:c.3715C>T NP_001394789.1:p.Gln1239Ter nonsense NM_001407861.1:c.3715C>T NP_001394790.1:p.Gln1239Ter nonsense NM_001407862.1:c.3517C>T NP_001394791.1:p.Gln1173Ter nonsense NM_001407863.1:c.3595C>T NP_001394792.1:p.Gln1199Ter nonsense NM_001407874.1:c.3514C>T NP_001394803.1:p.Gln1172Ter nonsense NM_001407875.1:c.3514C>T NP_001394804.1:p.Gln1172Ter nonsense NM_001407879.1:c.3508C>T NP_001394808.1:p.Gln1170Ter nonsense NM_001407881.1:c.3508C>T NP_001394810.1:p.Gln1170Ter nonsense NM_001407882.1:c.3508C>T NP_001394811.1:p.Gln1170Ter nonsense NM_001407884.1:c.3508C>T NP_001394813.1:p.Gln1170Ter nonsense NM_001407885.1:c.3508C>T NP_001394814.1:p.Gln1170Ter nonsense NM_001407886.1:c.3508C>T NP_001394815.1:p.Gln1170Ter nonsense NM_001407887.1:c.3508C>T NP_001394816.1:p.Gln1170Ter nonsense NM_001407889.1:c.3508C>T NP_001394818.1:p.Gln1170Ter nonsense NM_001407894.1:c.3505C>T NP_001394823.1:p.Gln1169Ter nonsense NM_001407895.1:c.3505C>T NP_001394824.1:p.Gln1169Ter nonsense NM_001407896.1:c.3505C>T NP_001394825.1:p.Gln1169Ter nonsense NM_001407897.1:c.3505C>T NP_001394826.1:p.Gln1169Ter nonsense NM_001407898.1:c.3505C>T NP_001394827.1:p.Gln1169Ter nonsense NM_001407899.1:c.3505C>T NP_001394828.1:p.Gln1169Ter nonsense NM_001407900.1:c.3508C>T NP_001394829.1:p.Gln1170Ter nonsense NM_001407902.1:c.3508C>T NP_001394831.1:p.Gln1170Ter nonsense NM_001407904.1:c.3508C>T NP_001394833.1:p.Gln1170Ter nonsense NM_001407906.1:c.3508C>T NP_001394835.1:p.Gln1170Ter nonsense NM_001407907.1:c.3508C>T NP_001394836.1:p.Gln1170Ter nonsense NM_001407908.1:c.3508C>T NP_001394837.1:p.Gln1170Ter nonsense NM_001407909.1:c.3508C>T NP_001394838.1:p.Gln1170Ter nonsense NM_001407910.1:c.3508C>T NP_001394839.1:p.Gln1170Ter nonsense NM_001407915.1:c.3505C>T NP_001394844.1:p.Gln1169Ter nonsense NM_001407916.1:c.3505C>T NP_001394845.1:p.Gln1169Ter nonsense NM_001407917.1:c.3505C>T NP_001394846.1:p.Gln1169Ter nonsense NM_001407918.1:c.3505C>T NP_001394847.1:p.Gln1169Ter nonsense NM_001407919.1:c.3595C>T NP_001394848.1:p.Gln1199Ter nonsense NM_001407920.1:c.3454C>T NP_001394849.1:p.Gln1152Ter nonsense NM_001407921.1:c.3454C>T NP_001394850.1:p.Gln1152Ter nonsense NM_001407922.1:c.3454C>T NP_001394851.1:p.Gln1152Ter nonsense NM_001407923.1:c.3454C>T NP_001394852.1:p.Gln1152Ter nonsense NM_001407924.1:c.3454C>T NP_001394853.1:p.Gln1152Ter nonsense NM_001407925.1:c.3454C>T NP_001394854.1:p.Gln1152Ter nonsense NM_001407926.1:c.3454C>T NP_001394855.1:p.Gln1152Ter nonsense NM_001407927.1:c.3454C>T NP_001394856.1:p.Gln1152Ter nonsense NM_001407928.1:c.3454C>T NP_001394857.1:p.Gln1152Ter nonsense NM_001407929.1:c.3454C>T NP_001394858.1:p.Gln1152Ter nonsense NM_001407930.1:c.3451C>T NP_001394859.1:p.Gln1151Ter nonsense NM_001407931.1:c.3451C>T NP_001394860.1:p.Gln1151Ter nonsense NM_001407932.1:c.3451C>T NP_001394861.1:p.Gln1151Ter nonsense NM_001407933.1:c.3454C>T NP_001394862.1:p.Gln1152Ter nonsense NM_001407934.1:c.3451C>T NP_001394863.1:p.Gln1151Ter nonsense NM_001407935.1:c.3454C>T NP_001394864.1:p.Gln1152Ter nonsense NM_001407936.1:c.3451C>T NP_001394865.1:p.Gln1151Ter nonsense NM_001407937.1:c.3595C>T NP_001394866.1:p.Gln1199Ter nonsense NM_001407938.1:c.3595C>T NP_001394867.1:p.Gln1199Ter nonsense NM_001407939.1:c.3595C>T NP_001394868.1:p.Gln1199Ter nonsense NM_001407940.1:c.3592C>T NP_001394869.1:p.Gln1198Ter nonsense NM_001407941.1:c.3592C>T NP_001394870.1:p.Gln1198Ter nonsense NM_001407942.1:c.3577C>T NP_001394871.1:p.Gln1193Ter nonsense NM_001407943.1:c.3574C>T NP_001394872.1:p.Gln1192Ter nonsense NM_001407944.1:c.3577C>T NP_001394873.1:p.Gln1193Ter nonsense NM_001407945.1:c.3577C>T NP_001394874.1:p.Gln1193Ter nonsense NM_001407946.1:c.3385C>T NP_001394875.1:p.Gln1129Ter nonsense NM_001407947.1:c.3385C>T NP_001394876.1:p.Gln1129Ter nonsense NM_001407948.1:c.3385C>T NP_001394877.1:p.Gln1129Ter nonsense NM_001407949.1:c.3385C>T NP_001394878.1:p.Gln1129Ter nonsense NM_001407950.1:c.3385C>T NP_001394879.1:p.Gln1129Ter nonsense NM_001407951.1:c.3385C>T NP_001394880.1:p.Gln1129Ter nonsense NM_001407952.1:c.3385C>T NP_001394881.1:p.Gln1129Ter nonsense NM_001407953.1:c.3385C>T NP_001394882.1:p.Gln1129Ter nonsense NM_001407954.1:c.3382C>T NP_001394883.1:p.Gln1128Ter nonsense NM_001407955.1:c.3382C>T NP_001394884.1:p.Gln1128Ter nonsense NM_001407956.1:c.3382C>T NP_001394885.1:p.Gln1128Ter nonsense NM_001407957.1:c.3385C>T NP_001394886.1:p.Gln1129Ter nonsense NM_001407958.1:c.3382C>T NP_001394887.1:p.Gln1128Ter nonsense NM_001407959.1:c.3337C>T NP_001394888.1:p.Gln1113Ter nonsense NM_001407960.1:c.3337C>T NP_001394889.1:p.Gln1113Ter nonsense NM_001407962.1:c.3334C>T NP_001394891.1:p.Gln1112Ter nonsense NM_001407963.1:c.3337C>T NP_001394892.1:p.Gln1113Ter nonsense NM_001407964.1:c.3574C>T NP_001394893.1:p.Gln1192Ter nonsense NM_001407965.1:c.3214C>T NP_001394894.1:p.Gln1072Ter nonsense NM_001407966.1:c.2830C>T NP_001394895.1:p.Gln944Ter nonsense NM_001407967.1:c.2830C>T NP_001394896.1:p.Gln944Ter nonsense NM_001407968.1:c.1114C>T NP_001394897.1:p.Gln372Ter nonsense NM_001407969.1:c.1114C>T NP_001394898.1:p.Gln372Ter nonsense NM_001407970.1:c.788-781C>T intron variant NM_001407971.1:c.788-781C>T intron variant NM_001407972.1:c.785-781C>T intron variant NM_001407973.1:c.788-781C>T intron variant NM_001407974.1:c.788-781C>T intron variant NM_001407975.1:c.788-781C>T intron variant NM_001407976.1:c.788-781C>T intron variant NM_001407977.1:c.788-781C>T intron variant NM_001407978.1:c.788-781C>T intron variant NM_001407979.1:c.788-781C>T intron variant NM_001407980.1:c.788-781C>T intron variant NM_001407981.1:c.788-781C>T intron variant NM_001407982.1:c.788-781C>T intron variant NM_001407983.1:c.788-781C>T intron variant NM_001407984.1:c.785-781C>T intron variant NM_001407985.1:c.785-781C>T intron variant NM_001407986.1:c.785-781C>T intron variant NM_001407990.1:c.788-781C>T intron variant NM_001407991.1:c.785-781C>T intron variant NM_001407992.1:c.785-781C>T intron variant NM_001407993.1:c.788-781C>T intron variant NM_001408392.1:c.785-781C>T intron variant NM_001408396.1:c.785-781C>T intron variant NM_001408397.1:c.785-781C>T intron variant NM_001408398.1:c.785-781C>T intron variant NM_001408399.1:c.785-781C>T intron variant NM_001408400.1:c.785-781C>T intron variant NM_001408401.1:c.785-781C>T intron variant NM_001408402.1:c.785-781C>T intron variant NM_001408403.1:c.788-781C>T intron variant NM_001408404.1:c.788-781C>T intron variant NM_001408406.1:c.791-790C>T intron variant NM_001408407.1:c.785-781C>T intron variant NM_001408408.1:c.779-781C>T intron variant NM_001408409.1:c.710-781C>T intron variant NM_001408410.1:c.647-781C>T intron variant NM_001408411.1:c.710-781C>T intron variant NM_001408412.1:c.710-781C>T intron variant NM_001408413.1:c.707-781C>T intron variant NM_001408414.1:c.710-781C>T intron variant NM_001408415.1:c.710-781C>T intron variant NM_001408416.1:c.707-781C>T intron variant NM_001408418.1:c.671-781C>T intron variant NM_001408419.1:c.671-781C>T intron variant NM_001408420.1:c.671-781C>T intron variant NM_001408421.1:c.668-781C>T intron variant NM_001408422.1:c.671-781C>T intron variant NM_001408423.1:c.671-781C>T intron variant NM_001408424.1:c.668-781C>T intron variant NM_001408425.1:c.665-781C>T intron variant NM_001408426.1:c.665-781C>T intron variant NM_001408427.1:c.665-781C>T intron variant NM_001408428.1:c.665-781C>T intron variant NM_001408429.1:c.665-781C>T intron variant NM_001408430.1:c.665-781C>T intron variant NM_001408431.1:c.668-781C>T intron variant NM_001408432.1:c.662-781C>T intron variant NM_001408433.1:c.662-781C>T intron variant NM_001408434.1:c.662-781C>T intron variant NM_001408435.1:c.662-781C>T intron variant NM_001408436.1:c.665-781C>T intron variant NM_001408437.1:c.665-781C>T intron variant NM_001408438.1:c.665-781C>T intron variant NM_001408439.1:c.665-781C>T intron variant NM_001408440.1:c.665-781C>T intron variant NM_001408441.1:c.665-781C>T intron variant NM_001408442.1:c.665-781C>T intron variant NM_001408443.1:c.665-781C>T intron variant NM_001408444.1:c.665-781C>T intron variant NM_001408445.1:c.662-781C>T intron variant NM_001408446.1:c.662-781C>T intron variant NM_001408447.1:c.662-781C>T intron variant NM_001408448.1:c.662-781C>T intron variant NM_001408450.1:c.662-781C>T intron variant NM_001408451.1:c.653-781C>T intron variant NM_001408452.1:c.647-781C>T intron variant NM_001408453.1:c.647-781C>T intron variant NM_001408454.1:c.647-781C>T intron variant NM_001408455.1:c.647-781C>T intron variant NM_001408456.1:c.647-781C>T intron variant NM_001408457.1:c.647-781C>T intron variant NM_001408458.1:c.647-781C>T intron variant NM_001408459.1:c.647-781C>T intron variant NM_001408460.1:c.647-781C>T intron variant NM_001408461.1:c.647-781C>T intron variant NM_001408462.1:c.644-781C>T intron variant NM_001408463.1:c.644-781C>T intron variant NM_001408464.1:c.644-781C>T intron variant NM_001408465.1:c.644-781C>T intron variant NM_001408466.1:c.647-781C>T intron variant NM_001408467.1:c.647-781C>T intron variant NM_001408468.1:c.644-781C>T intron variant NM_001408469.1:c.647-781C>T intron variant NM_001408470.1:c.644-781C>T intron variant NM_001408472.1:c.788-781C>T intron variant NM_001408473.1:c.785-781C>T intron variant NM_001408474.1:c.587-781C>T intron variant NM_001408475.1:c.584-781C>T intron variant NM_001408476.1:c.587-781C>T intron variant NM_001408478.1:c.578-781C>T intron variant NM_001408479.1:c.578-781C>T intron variant NM_001408480.1:c.578-781C>T intron variant NM_001408481.1:c.578-781C>T intron variant NM_001408482.1:c.578-781C>T intron variant NM_001408483.1:c.578-781C>T intron variant NM_001408484.1:c.578-781C>T intron variant NM_001408485.1:c.578-781C>T intron variant NM_001408489.1:c.578-781C>T intron variant NM_001408490.1:c.575-781C>T intron variant NM_001408491.1:c.575-781C>T intron variant NM_001408492.1:c.578-781C>T intron variant NM_001408493.1:c.575-781C>T intron variant NM_001408494.1:c.548-781C>T intron variant NM_001408495.1:c.545-781C>T intron variant NM_001408496.1:c.524-781C>T intron variant NM_001408497.1:c.524-781C>T intron variant NM_001408498.1:c.524-781C>T intron variant NM_001408499.1:c.524-781C>T intron variant NM_001408500.1:c.524-781C>T intron variant NM_001408501.1:c.524-781C>T intron variant NM_001408502.1:c.455-781C>T intron variant NM_001408503.1:c.521-781C>T intron variant NM_001408504.1:c.521-781C>T intron variant NM_001408505.1:c.521-781C>T intron variant NM_001408506.1:c.461-781C>T intron variant NM_001408507.1:c.461-781C>T intron variant NM_001408508.1:c.452-781C>T intron variant NM_001408509.1:c.452-781C>T intron variant NM_001408510.1:c.407-781C>T intron variant NM_001408511.1:c.404-781C>T intron variant NM_001408512.1:c.284-781C>T intron variant NM_001408513.1:c.578-781C>T intron variant NM_001408514.1:c.578-781C>T intron variant NM_007297.4:c.3577C>T NP_009228.2:p.Gln1193Ter nonsense NM_007298.4:c.788-781C>T intron variant NM_007299.4:c.788-781C>T intron variant NM_007300.4:c.3718C>T NP_009231.2:p.Gln1240Ter nonsense NR_027676.1:n.3854C>T NC_000017.11:g.43091813G>A NC_000017.10:g.41243830G>A NG_005905.2:g.126171C>T NG_087068.1:g.795G>A LRG_292:g.126171C>T LRG_292t1:c.3718C>T LRG_292p1:p.Gln1240Ter U14680.1:n.3837C>T - Protein change
- Q1240*, Q1193*, Q1128*, Q1152*, Q1172*, Q1192*, Q1213*, Q1239*, Q1113*, Q1169*, Q1170*, Q1198*, Q1199*, Q1151*, Q1173*, Q1237*, Q372*, Q1072*, Q1112*, Q1129*, Q1214*, Q944*
- Other names
- 3837C>T
- Canonical SPDI
- NC_000017.11:43091812: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 |
13037 | 14843 | |
LOC126862571 | - | - | - | GRCh38 | - | 1651 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
|
Jun 23, 2023 | RCV000048301.24 | |
Pathogenic (12) |
reviewed by expert panel
|
Apr 22, 2016 | RCV000077554.24 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
May 10, 2023 | RCV000162866.17 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
|
Jul 31, 2024 | RCV000519156.17 |
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: SCV000282316.1
First in ClinVar: Jun 24, 2016 Last updated: Jun 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
Pathogenic
(Apr 02, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Department of Molecular Diagnostics, Institute of Oncology Ljubljana
Accession: SCV001499717.1
First in ClinVar: Mar 07, 2021 Last updated: Mar 07, 2021 |
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Pathogenic
(Dec 01, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004216873.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Pathogenic
(Jul 12, 2022)
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criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000213353.7
First in ClinVar: Mar 24, 2015 Last updated: May 01, 2024 |
Comment:
The p.Q1240* pathogenic mutation (also known as c.3718C>T) located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at … (more)
The p.Q1240* pathogenic mutation (also known as c.3718C>T) located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at nucleotide position 3718. This changes the amino acid from a glutamine to a stop codon within coding exon 9. This mutation has been reported in many individuals with personal and family histories of breast, ovarian, fallopian tube, and prostate cancer (Callahan MJ et al. J. Clin. Oncol. 2007 Sep;25:3985-90; Novakovi S et al. Int. J. Oncol. 2012 Nov;41:1619-27; Connor JR et al. Gynecol. Oncol. 2014 Feb;132:280-6; Wang C et al. Ann. Oncol. 2015 Mar;26:523-8; Zhang J et al. Breast Cancer Res. Treat. 2016 Aug;158:455-62; Cvelbar M et al. Radiol. Oncol. 2017 Jun;51(2):187-194). It has also been reported in a female patient diagnosed with advanced metastatic endometrial cancer who had a family history of melanoma, breast cancer, and prostate cancer (Kwon JS et al. Int. J. Gynecol. Cancer. 2008 May-Jun;18:546-9). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Of note, this alteration is also designated as 3837C>T and Q1240X 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
(May 27, 2024)
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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
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
Accession: SCV005045932.1
First in ClinVar: Jun 02, 2024 Last updated: Jun 02, 2024 |
Comment:
PVS1; PM2_supporting; PM5_PTC_Strong
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Pathogenic
(Jul 31, 2024)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV002760934.4
First in ClinVar: Dec 17, 2022 Last updated: Aug 04, 2024 |
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Pathogenic
(Jul 28, 2017)
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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
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
Study: VKGL Data-share Consensus
Accession: SCV000743403.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
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Pathogenic
(Jul 29, 2015)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
(Autosomal dominant inheritance)
Affected status: not provided
Allele origin:
germline
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000271317.3
First in ClinVar: May 29, 2016 Last updated: Aug 05, 2017 |
Comment:
The p.Gln1240X variant in BRCA1 has been reported in 2 individuals with endometr ial cancer (Kwon 2008, Conner 2014) and at least 7 individuals with … (more)
The p.Gln1240X variant in BRCA1 has been reported in 2 individuals with endometr ial cancer (Kwon 2008, Conner 2014) and at least 7 individuals with breast and/o r ovarian cancer (Novakovic 2012, Wang 2015, Breast Cancer Information Core (BIC )). It was absent from large population studies. This nonsense variant leads to a premature termination codon at position 1240, which is predicted to lead to a truncated or absent protein. Heterozygous loss of BRCA1 function is an establish ed disease mechanism in hereditary breast and ovarian cancer (HBOC). In summary, this variant meets our criteria to be classified as pathogenic for HBOC in an a utosomal dominant manner (http://www.partners.org/personalizedmedicine/LMM) base d upon the predicted impact to the protein, presence in affected individuals, an d absence in controls. (less)
Number of individuals with the variant: 1
|
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Pathogenic
(Jan 22, 2019)
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criteria provided, single submitter
Method: research
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
Study: AGHI_GT
Accession: SCV000993553.1 First in ClinVar: Oct 01, 2019 Last updated: Oct 01, 2019 |
Number of individuals with the variant: 1
|
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Pathogenic
(Nov 15, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000617451.3
First in ClinVar: Dec 19, 2017 Last updated: Dec 03, 2022 |
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of … (more)
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Observed in individuals with a personal and family history of breast and/or ovarian cancer (Balleine et al., 2010; Novakovic et al., 2012; Wang et al., 2015); 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 3837C>T; This variant is associated with the following publications: (PMID: 25525159, 25480878, 24333842, 17645508, 22923021, 17761984, 27393621, 20815029, 23397983, 26833046, 18446624, 28740454, 28888541, 28724667, 29446198, 30702160, 31825140, 32918181) (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
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000325732.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(Aug 09, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000887677.3
First in ClinVar: Dec 19, 2017 Last updated: Jan 06, 2024 |
Comment:
his variant causes the premature termination of BRCA1 protein synthesis. In the published literature, this variant has been reported in individuals with pancreatic cancer (PMID: … (more)
his variant causes the premature termination of BRCA1 protein synthesis. In the published literature, this variant has been reported in individuals with pancreatic cancer (PMID: 32918181 (2021)), ovarian cancer (PMID: 28740454 (2017)), and breast cancer (PMID: 31957001 (2020), 30702160 (2019), 28724667 (2017), 27393621 (2016), 25480878 (2015)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as pathogenic. (less)
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Pathogenic
(May 10, 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: SCV001340476.3
First in ClinVar: Jun 22, 2020 Last updated: Feb 14, 2024 |
Comment:
This variant BRCA1 c.3718C>T (also known as BRCA1 3837C>T in the literature) creates a premature translation stop signal. This variant is expected to result in … (more)
This variant BRCA1 c.3718C>T (also known as BRCA1 3837C>T in the literature) creates 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 individuals affected with endometrial, breast and ovarian cancer (PMID: 17645508, 22923021, 24333842, 25480878, 27393621). 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. Based on available evidence, this variant is classified as Pathogenic. (less)
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Pathogenic
(Jun 23, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000076314.11
First in ClinVar: Jul 03, 2013 Last updated: Feb 20, 2024 |
Comment:
This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1240*) in the BRCA1 gene. … (more)
This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1240*) 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 premature translational stop signal has been observed in individual(s) with breast, ovarian, and endometrial cancer (PMID: 17645508, 22923021, 24333842, 25480878, 27393621). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 54978). This variant is also known as 3837C>T. (less)
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Pathogenic
(Jul 19, 2023)
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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: SCV004817759.1
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 BRCA1 c.3718C>T (also known as BRCA1 3837C>T in the literature) creates a premature translation stop signal. This variant is expected to result in … (more)
This variant BRCA1 c.3718C>T (also known as BRCA1 3837C>T in the literature) creates a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. Computational splicing tools suggest that this variant may not impact RNA splicing. This variant has been reported in individuals affected with endometrial, breast and ovarian cancer (PMID: 17645508, 22923021, 24333842, 25480878, 27393621). 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. Based on available evidence, this variant is classified as Pathogenic. (less)
Number of individuals with the variant: 1
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Pathogenic
(Jun 10, 2010)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
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Sharing Clinical Reports Project (SCRP)
Accession: SCV000109355.2
First in ClinVar: Dec 23, 2013 Last updated: Sep 27, 2014 |
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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: SCV000144849.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 1
Observation 2:
Number of individuals with the variant: 1
Geographic origin: Central/Eastern European
Observation 3:
Number of individuals with the variant: 4
Ethnicity/Population group: Western European
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Pathogenic
(-)
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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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Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000733621.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
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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: SCV000587338.1 First in ClinVar: Aug 05, 2017 Last updated: Aug 05, 2017 |
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Pathogenic
(Aug 26, 2022)
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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: SCV002589111.1
First in ClinVar: Apr 01, 2023 Last updated: Apr 01, 2023 |
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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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Prevalence of pancreaticobiliary cancers in Irish families with pathogenic BRCA1 and BRCA2 variants. | Power R | Familial cancer | 2021 | PMID: 32918181 |
BRCA1 c.5470_5477del, a founder mutation in Chinese Han breast cancer patients. | Meng H | International journal of cancer | 2020 | PMID: 31957001 |
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients. | Bhaskaran SP | International journal of cancer | 2019 | PMID: 30702160 |
Validation and Implementation of BRCA1/2 Variant Screening in Ovarian Tumor Tissue. | de Jonge MM | The Journal of molecular diagnostics : JMD | 2018 | PMID: 29936257 |
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
Genetic Counselling, BRCA1/2 Status and Clinico-pathologic Characteristics of Patients with Ovarian Cancer before 50 Years of Age. | Cvelbar M | Radiology and oncology | 2017 | PMID: 28740454 |
Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. | Sun J | Clinical cancer research : an official journal of the American Association for Cancer Research | 2017 | PMID: 28724667 |
Clinical Actionability of Comprehensive Genomic Profiling for Management of Rare or Refractory Cancers. | Hirshfield KM | The oncologist | 2016 | PMID: 27566247 |
Comprehensive analysis of BRCA1 and BRCA2 germline mutations in a large cohort of 5931 Chinese women with breast cancer. | Zhang J | Breast cancer research and treatment | 2016 | PMID: 27393621 |
Prevalence of BRCA1 mutations and responses to neoadjuvant chemotherapy among BRCA1 carriers and non-carriers with triple-negative breast cancer. | Wang C | Annals of oncology : official journal of the European Society for Medical Oncology | 2015 | PMID: 25480878 |
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 |
Geographical distribution of Slovenian BRCA1/2 families according to family origin: implications for genetic screening. | Krajc M | Clinical genetics | 2014 | PMID: 23397983 |
Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families. | Novaković S | International journal of oncology | 2012 | PMID: 22923021 |
Familial concordance of breast cancer pathology as an indicator of genotype in multiple-case families. | Balleine RL | Genes, chromosomes & cancer | 2010 | PMID: 20815029 |
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 |
Prolonged survival among women with BRCA germline mutations and advanced endometrial cancer: a case series. | Kwon JS | International journal of gynecological cancer : official journal of the International Gynecological Cancer Society | 2008 | PMID: 17645508 |
Primary fallopian tube malignancies in BRCA-positive women undergoing surgery for ovarian cancer risk reduction. | Callahan MJ | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2007 | PMID: 17761984 |
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Text-mined citations for rs80356903 ...
HelpRecord last updated Oct 13, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.