ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter)
Variation ID: 37569 Accession: VCV000037569.30
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43091012 (GRCh38) [ NCBI UCSC ] 17: 41243029 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 1, 2014 May 1, 2024 Sep 8, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.4117G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Glu1373Ter nonsense NM_001407571.1:c.3904G>T NP_001394500.1:p.Glu1302Ter nonsense NM_001407581.1:c.4117G>T NP_001394510.1:p.Glu1373Ter nonsense NM_001407582.1:c.4117G>T NP_001394511.1:p.Glu1373Ter nonsense NM_001407583.1:c.4117G>T NP_001394512.1:p.Glu1373Ter nonsense NM_001407585.1:c.4117G>T NP_001394514.1:p.Glu1373Ter nonsense NM_001407587.1:c.4114G>T NP_001394516.1:p.Glu1372Ter nonsense NM_001407590.1:c.4114G>T NP_001394519.1:p.Glu1372Ter nonsense NM_001407591.1:c.4114G>T NP_001394520.1:p.Glu1372Ter nonsense NM_001407593.1:c.4117G>T NP_001394522.1:p.Glu1373Ter nonsense NM_001407594.1:c.4117G>T NP_001394523.1:p.Glu1373Ter nonsense NM_001407596.1:c.4117G>T NP_001394525.1:p.Glu1373Ter nonsense NM_001407597.1:c.4117G>T NP_001394526.1:p.Glu1373Ter nonsense NM_001407598.1:c.4117G>T NP_001394527.1:p.Glu1373Ter nonsense NM_001407602.1:c.4117G>T NP_001394531.1:p.Glu1373Ter nonsense NM_001407603.1:c.4117G>T NP_001394532.1:p.Glu1373Ter nonsense NM_001407605.1:c.4117G>T NP_001394534.1:p.Glu1373Ter nonsense NM_001407610.1:c.4114G>T NP_001394539.1:p.Glu1372Ter nonsense NM_001407611.1:c.4114G>T NP_001394540.1:p.Glu1372Ter nonsense NM_001407612.1:c.4114G>T NP_001394541.1:p.Glu1372Ter nonsense NM_001407613.1:c.4114G>T NP_001394542.1:p.Glu1372Ter nonsense NM_001407614.1:c.4114G>T NP_001394543.1:p.Glu1372Ter nonsense NM_001407615.1:c.4114G>T NP_001394544.1:p.Glu1372Ter nonsense NM_001407616.1:c.4117G>T NP_001394545.1:p.Glu1373Ter nonsense NM_001407617.1:c.4117G>T NP_001394546.1:p.Glu1373Ter nonsense NM_001407618.1:c.4117G>T NP_001394547.1:p.Glu1373Ter nonsense NM_001407619.1:c.4117G>T NP_001394548.1:p.Glu1373Ter nonsense NM_001407620.1:c.4117G>T NP_001394549.1:p.Glu1373Ter nonsense NM_001407621.1:c.4117G>T NP_001394550.1:p.Glu1373Ter nonsense NM_001407622.1:c.4117G>T NP_001394551.1:p.Glu1373Ter nonsense NM_001407623.1:c.4117G>T NP_001394552.1:p.Glu1373Ter nonsense NM_001407624.1:c.4117G>T NP_001394553.1:p.Glu1373Ter nonsense NM_001407625.1:c.4117G>T NP_001394554.1:p.Glu1373Ter nonsense NM_001407626.1:c.4117G>T NP_001394555.1:p.Glu1373Ter nonsense NM_001407627.1:c.4114G>T NP_001394556.1:p.Glu1372Ter nonsense NM_001407628.1:c.4114G>T NP_001394557.1:p.Glu1372Ter nonsense NM_001407629.1:c.4114G>T NP_001394558.1:p.Glu1372Ter nonsense NM_001407630.1:c.4114G>T NP_001394559.1:p.Glu1372Ter nonsense NM_001407631.1:c.4114G>T NP_001394560.1:p.Glu1372Ter nonsense NM_001407632.1:c.4114G>T NP_001394561.1:p.Glu1372Ter nonsense NM_001407633.1:c.4114G>T NP_001394562.1:p.Glu1372Ter nonsense NM_001407634.1:c.4114G>T NP_001394563.1:p.Glu1372Ter nonsense NM_001407635.1:c.4114G>T NP_001394564.1:p.Glu1372Ter nonsense NM_001407636.1:c.4114G>T NP_001394565.1:p.Glu1372Ter nonsense NM_001407637.1:c.4114G>T NP_001394566.1:p.Glu1372Ter nonsense NM_001407638.1:c.4114G>T NP_001394567.1:p.Glu1372Ter nonsense NM_001407639.1:c.4117G>T NP_001394568.1:p.Glu1373Ter nonsense NM_001407640.1:c.4117G>T NP_001394569.1:p.Glu1373Ter nonsense NM_001407641.1:c.4117G>T NP_001394570.1:p.Glu1373Ter nonsense NM_001407642.1:c.4117G>T NP_001394571.1:p.Glu1373Ter nonsense NM_001407644.1:c.4114G>T NP_001394573.1:p.Glu1372Ter nonsense NM_001407645.1:c.4114G>T NP_001394574.1:p.Glu1372Ter nonsense NM_001407646.1:c.4108G>T NP_001394575.1:p.Glu1370Ter nonsense NM_001407647.1:c.4108G>T NP_001394576.1:p.Glu1370Ter nonsense NM_001407648.1:c.3994G>T NP_001394577.1:p.Glu1332Ter nonsense NM_001407649.1:c.3991G>T NP_001394578.1:p.Glu1331Ter nonsense NM_001407652.1:c.4117G>T NP_001394581.1:p.Glu1373Ter nonsense NM_001407653.1:c.4039G>T NP_001394582.1:p.Glu1347Ter nonsense NM_001407654.1:c.4039G>T NP_001394583.1:p.Glu1347Ter nonsense NM_001407655.1:c.4039G>T NP_001394584.1:p.Glu1347Ter nonsense NM_001407656.1:c.4039G>T NP_001394585.1:p.Glu1347Ter nonsense NM_001407657.1:c.4039G>T NP_001394586.1:p.Glu1347Ter nonsense NM_001407658.1:c.4039G>T NP_001394587.1:p.Glu1347Ter nonsense NM_001407659.1:c.4036G>T NP_001394588.1:p.Glu1346Ter nonsense NM_001407660.1:c.4036G>T NP_001394589.1:p.Glu1346Ter nonsense NM_001407661.1:c.4036G>T NP_001394590.1:p.Glu1346Ter nonsense NM_001407662.1:c.4036G>T NP_001394591.1:p.Glu1346Ter nonsense NM_001407663.1:c.4039G>T NP_001394592.1:p.Glu1347Ter nonsense NM_001407664.1:c.3994G>T NP_001394593.1:p.Glu1332Ter nonsense NM_001407665.1:c.3994G>T NP_001394594.1:p.Glu1332Ter nonsense NM_001407666.1:c.3994G>T NP_001394595.1:p.Glu1332Ter nonsense NM_001407667.1:c.3994G>T NP_001394596.1:p.Glu1332Ter nonsense NM_001407668.1:c.3994G>T NP_001394597.1:p.Glu1332Ter nonsense NM_001407669.1:c.3994G>T NP_001394598.1:p.Glu1332Ter nonsense NM_001407670.1:c.3991G>T NP_001394599.1:p.Glu1331Ter nonsense NM_001407671.1:c.3991G>T NP_001394600.1:p.Glu1331Ter nonsense NM_001407672.1:c.3991G>T NP_001394601.1:p.Glu1331Ter nonsense NM_001407673.1:c.3991G>T NP_001394602.1:p.Glu1331Ter nonsense NM_001407674.1:c.3994G>T NP_001394603.1:p.Glu1332Ter nonsense NM_001407675.1:c.3994G>T NP_001394604.1:p.Glu1332Ter nonsense NM_001407676.1:c.3994G>T NP_001394605.1:p.Glu1332Ter nonsense NM_001407677.1:c.3994G>T NP_001394606.1:p.Glu1332Ter nonsense NM_001407678.1:c.3994G>T NP_001394607.1:p.Glu1332Ter nonsense NM_001407679.1:c.3994G>T NP_001394608.1:p.Glu1332Ter nonsense NM_001407680.1:c.3994G>T NP_001394609.1:p.Glu1332Ter nonsense NM_001407681.1:c.3994G>T NP_001394610.1:p.Glu1332Ter nonsense NM_001407682.1:c.3994G>T NP_001394611.1:p.Glu1332Ter nonsense NM_001407683.1:c.3994G>T NP_001394612.1:p.Glu1332Ter nonsense NM_001407684.1:c.4117G>T NP_001394613.1:p.Glu1373Ter nonsense NM_001407685.1:c.3991G>T NP_001394614.1:p.Glu1331Ter nonsense NM_001407686.1:c.3991G>T NP_001394615.1:p.Glu1331Ter nonsense NM_001407687.1:c.3991G>T NP_001394616.1:p.Glu1331Ter nonsense NM_001407688.1:c.3991G>T NP_001394617.1:p.Glu1331Ter nonsense NM_001407689.1:c.3991G>T NP_001394618.1:p.Glu1331Ter nonsense NM_001407690.1:c.3991G>T NP_001394619.1:p.Glu1331Ter nonsense NM_001407691.1:c.3991G>T NP_001394620.1:p.Glu1331Ter nonsense NM_001407692.1:c.3976G>T NP_001394621.1:p.Glu1326Ter nonsense NM_001407694.1:c.3976G>T NP_001394623.1:p.Glu1326Ter nonsense NM_001407695.1:c.3976G>T NP_001394624.1:p.Glu1326Ter nonsense NM_001407696.1:c.3976G>T NP_001394625.1:p.Glu1326Ter nonsense NM_001407697.1:c.3976G>T NP_001394626.1:p.Glu1326Ter nonsense NM_001407698.1:c.3976G>T NP_001394627.1:p.Glu1326Ter nonsense NM_001407724.1:c.3976G>T NP_001394653.1:p.Glu1326Ter nonsense NM_001407725.1:c.3976G>T NP_001394654.1:p.Glu1326Ter nonsense NM_001407726.1:c.3976G>T NP_001394655.1:p.Glu1326Ter nonsense NM_001407727.1:c.3976G>T NP_001394656.1:p.Glu1326Ter nonsense NM_001407728.1:c.3976G>T NP_001394657.1:p.Glu1326Ter nonsense NM_001407729.1:c.3976G>T NP_001394658.1:p.Glu1326Ter nonsense NM_001407730.1:c.3976G>T NP_001394659.1:p.Glu1326Ter nonsense NM_001407731.1:c.3976G>T NP_001394660.1:p.Glu1326Ter nonsense NM_001407732.1:c.3976G>T NP_001394661.1:p.Glu1326Ter nonsense NM_001407733.1:c.3976G>T NP_001394662.1:p.Glu1326Ter nonsense NM_001407734.1:c.3976G>T NP_001394663.1:p.Glu1326Ter nonsense NM_001407735.1:c.3976G>T NP_001394664.1:p.Glu1326Ter nonsense NM_001407736.1:c.3976G>T NP_001394665.1:p.Glu1326Ter nonsense NM_001407737.1:c.3976G>T NP_001394666.1:p.Glu1326Ter nonsense NM_001407738.1:c.3976G>T NP_001394667.1:p.Glu1326Ter nonsense NM_001407739.1:c.3976G>T NP_001394668.1:p.Glu1326Ter nonsense NM_001407740.1:c.3973G>T NP_001394669.1:p.Glu1325Ter nonsense NM_001407741.1:c.3973G>T NP_001394670.1:p.Glu1325Ter nonsense NM_001407742.1:c.3973G>T NP_001394671.1:p.Glu1325Ter nonsense NM_001407743.1:c.3973G>T NP_001394672.1:p.Glu1325Ter nonsense NM_001407744.1:c.3973G>T NP_001394673.1:p.Glu1325Ter nonsense NM_001407745.1:c.3973G>T NP_001394674.1:p.Glu1325Ter nonsense NM_001407746.1:c.3973G>T NP_001394675.1:p.Glu1325Ter nonsense NM_001407747.1:c.3973G>T NP_001394676.1:p.Glu1325Ter nonsense NM_001407748.1:c.3973G>T NP_001394677.1:p.Glu1325Ter nonsense NM_001407749.1:c.3973G>T NP_001394678.1:p.Glu1325Ter nonsense NM_001407750.1:c.3976G>T NP_001394679.1:p.Glu1326Ter nonsense NM_001407751.1:c.3976G>T NP_001394680.1:p.Glu1326Ter nonsense NM_001407752.1:c.3976G>T NP_001394681.1:p.Glu1326Ter nonsense NM_001407838.1:c.3973G>T NP_001394767.1:p.Glu1325Ter nonsense NM_001407839.1:c.3973G>T NP_001394768.1:p.Glu1325Ter nonsense NM_001407841.1:c.3973G>T NP_001394770.1:p.Glu1325Ter nonsense NM_001407842.1:c.3973G>T NP_001394771.1:p.Glu1325Ter nonsense NM_001407843.1:c.3973G>T NP_001394772.1:p.Glu1325Ter nonsense NM_001407844.1:c.3973G>T NP_001394773.1:p.Glu1325Ter nonsense NM_001407845.1:c.3973G>T NP_001394774.1:p.Glu1325Ter nonsense NM_001407846.1:c.3973G>T NP_001394775.1:p.Glu1325Ter nonsense NM_001407847.1:c.3973G>T NP_001394776.1:p.Glu1325Ter nonsense NM_001407848.1:c.3973G>T NP_001394777.1:p.Glu1325Ter nonsense NM_001407849.1:c.3973G>T NP_001394778.1:p.Glu1325Ter nonsense NM_001407850.1:c.3976G>T NP_001394779.1:p.Glu1326Ter nonsense NM_001407851.1:c.3976G>T NP_001394780.1:p.Glu1326Ter nonsense NM_001407852.1:c.3976G>T NP_001394781.1:p.Glu1326Ter nonsense NM_001407853.1:c.3904G>T NP_001394782.1:p.Glu1302Ter nonsense NM_001407854.1:c.4117G>T NP_001394783.1:p.Glu1373Ter nonsense NM_001407858.1:c.4117G>T NP_001394787.1:p.Glu1373Ter nonsense NM_001407859.1:c.4117G>T NP_001394788.1:p.Glu1373Ter nonsense NM_001407860.1:c.4114G>T NP_001394789.1:p.Glu1372Ter nonsense NM_001407861.1:c.4114G>T NP_001394790.1:p.Glu1372Ter nonsense NM_001407862.1:c.3916G>T NP_001394791.1:p.Glu1306Ter nonsense NM_001407863.1:c.3994G>T NP_001394792.1:p.Glu1332Ter nonsense NM_001407874.1:c.3913G>T NP_001394803.1:p.Glu1305Ter nonsense NM_001407875.1:c.3913G>T NP_001394804.1:p.Glu1305Ter nonsense NM_001407879.1:c.3907G>T NP_001394808.1:p.Glu1303Ter nonsense NM_001407881.1:c.3907G>T NP_001394810.1:p.Glu1303Ter nonsense NM_001407882.1:c.3907G>T NP_001394811.1:p.Glu1303Ter nonsense NM_001407884.1:c.3907G>T NP_001394813.1:p.Glu1303Ter nonsense NM_001407885.1:c.3907G>T NP_001394814.1:p.Glu1303Ter nonsense NM_001407886.1:c.3907G>T NP_001394815.1:p.Glu1303Ter nonsense NM_001407887.1:c.3907G>T NP_001394816.1:p.Glu1303Ter nonsense NM_001407889.1:c.3907G>T NP_001394818.1:p.Glu1303Ter nonsense NM_001407894.1:c.3904G>T NP_001394823.1:p.Glu1302Ter nonsense NM_001407895.1:c.3904G>T NP_001394824.1:p.Glu1302Ter nonsense NM_001407896.1:c.3904G>T NP_001394825.1:p.Glu1302Ter nonsense NM_001407897.1:c.3904G>T NP_001394826.1:p.Glu1302Ter nonsense NM_001407898.1:c.3904G>T NP_001394827.1:p.Glu1302Ter nonsense NM_001407899.1:c.3904G>T NP_001394828.1:p.Glu1302Ter nonsense NM_001407900.1:c.3907G>T NP_001394829.1:p.Glu1303Ter nonsense NM_001407902.1:c.3907G>T NP_001394831.1:p.Glu1303Ter nonsense NM_001407904.1:c.3907G>T NP_001394833.1:p.Glu1303Ter nonsense NM_001407906.1:c.3907G>T NP_001394835.1:p.Glu1303Ter nonsense NM_001407907.1:c.3907G>T NP_001394836.1:p.Glu1303Ter nonsense NM_001407908.1:c.3907G>T NP_001394837.1:p.Glu1303Ter nonsense NM_001407909.1:c.3907G>T NP_001394838.1:p.Glu1303Ter nonsense NM_001407910.1:c.3907G>T NP_001394839.1:p.Glu1303Ter nonsense NM_001407915.1:c.3904G>T NP_001394844.1:p.Glu1302Ter nonsense NM_001407916.1:c.3904G>T NP_001394845.1:p.Glu1302Ter nonsense NM_001407917.1:c.3904G>T NP_001394846.1:p.Glu1302Ter nonsense NM_001407918.1:c.3904G>T NP_001394847.1:p.Glu1302Ter nonsense NM_001407919.1:c.3994G>T NP_001394848.1:p.Glu1332Ter nonsense NM_001407920.1:c.3853G>T NP_001394849.1:p.Glu1285Ter nonsense NM_001407921.1:c.3853G>T NP_001394850.1:p.Glu1285Ter nonsense NM_001407922.1:c.3853G>T NP_001394851.1:p.Glu1285Ter nonsense NM_001407923.1:c.3853G>T NP_001394852.1:p.Glu1285Ter nonsense NM_001407924.1:c.3853G>T NP_001394853.1:p.Glu1285Ter nonsense NM_001407925.1:c.3853G>T NP_001394854.1:p.Glu1285Ter nonsense NM_001407926.1:c.3853G>T NP_001394855.1:p.Glu1285Ter nonsense NM_001407927.1:c.3853G>T NP_001394856.1:p.Glu1285Ter nonsense NM_001407928.1:c.3853G>T NP_001394857.1:p.Glu1285Ter nonsense NM_001407929.1:c.3853G>T NP_001394858.1:p.Glu1285Ter nonsense NM_001407930.1:c.3850G>T NP_001394859.1:p.Glu1284Ter nonsense NM_001407931.1:c.3850G>T NP_001394860.1:p.Glu1284Ter nonsense NM_001407932.1:c.3850G>T NP_001394861.1:p.Glu1284Ter nonsense NM_001407933.1:c.3853G>T NP_001394862.1:p.Glu1285Ter nonsense NM_001407934.1:c.3850G>T NP_001394863.1:p.Glu1284Ter nonsense NM_001407935.1:c.3853G>T NP_001394864.1:p.Glu1285Ter nonsense NM_001407936.1:c.3850G>T NP_001394865.1:p.Glu1284Ter nonsense NM_001407937.1:c.3994G>T NP_001394866.1:p.Glu1332Ter nonsense NM_001407938.1:c.3994G>T NP_001394867.1:p.Glu1332Ter nonsense NM_001407939.1:c.3994G>T NP_001394868.1:p.Glu1332Ter nonsense NM_001407940.1:c.3991G>T NP_001394869.1:p.Glu1331Ter nonsense NM_001407941.1:c.3991G>T NP_001394870.1:p.Glu1331Ter nonsense NM_001407942.1:c.3976G>T NP_001394871.1:p.Glu1326Ter nonsense NM_001407943.1:c.3973G>T NP_001394872.1:p.Glu1325Ter nonsense NM_001407944.1:c.3976G>T NP_001394873.1:p.Glu1326Ter nonsense NM_001407945.1:c.3976G>T NP_001394874.1:p.Glu1326Ter nonsense NM_001407946.1:c.3784G>T NP_001394875.1:p.Glu1262Ter nonsense NM_001407947.1:c.3784G>T NP_001394876.1:p.Glu1262Ter nonsense NM_001407948.1:c.3784G>T NP_001394877.1:p.Glu1262Ter nonsense NM_001407949.1:c.3784G>T NP_001394878.1:p.Glu1262Ter nonsense NM_001407950.1:c.3784G>T NP_001394879.1:p.Glu1262Ter nonsense NM_001407951.1:c.3784G>T NP_001394880.1:p.Glu1262Ter nonsense NM_001407952.1:c.3784G>T NP_001394881.1:p.Glu1262Ter nonsense NM_001407953.1:c.3784G>T NP_001394882.1:p.Glu1262Ter nonsense NM_001407954.1:c.3781G>T NP_001394883.1:p.Glu1261Ter nonsense NM_001407955.1:c.3781G>T NP_001394884.1:p.Glu1261Ter nonsense NM_001407956.1:c.3781G>T NP_001394885.1:p.Glu1261Ter nonsense NM_001407957.1:c.3784G>T NP_001394886.1:p.Glu1262Ter nonsense NM_001407958.1:c.3781G>T NP_001394887.1:p.Glu1261Ter nonsense NM_001407959.1:c.3736G>T NP_001394888.1:p.Glu1246Ter nonsense NM_001407960.1:c.3736G>T NP_001394889.1:p.Glu1246Ter nonsense NM_001407962.1:c.3733G>T NP_001394891.1:p.Glu1245Ter nonsense NM_001407963.1:c.3736G>T NP_001394892.1:p.Glu1246Ter nonsense NM_001407964.1:c.3973G>T NP_001394893.1:p.Glu1325Ter nonsense NM_001407965.1:c.3613G>T NP_001394894.1:p.Glu1205Ter nonsense NM_001407966.1:c.3229G>T NP_001394895.1:p.Glu1077Ter nonsense NM_001407967.1:c.3229G>T NP_001394896.1:p.Glu1077Ter nonsense NM_001407968.1:c.1513G>T NP_001394897.1:p.Glu505Ter nonsense NM_001407969.1:c.1513G>T NP_001394898.1:p.Glu505Ter nonsense NM_001407970.1:c.808G>T NP_001394899.1:p.Glu270Ter nonsense NM_001407971.1:c.808G>T NP_001394900.1:p.Glu270Ter nonsense NM_001407972.1:c.805G>T NP_001394901.1:p.Glu269Ter nonsense NM_001407973.1:c.808G>T NP_001394902.1:p.Glu270Ter nonsense NM_001407974.1:c.808G>T NP_001394903.1:p.Glu270Ter nonsense NM_001407975.1:c.808G>T NP_001394904.1:p.Glu270Ter nonsense NM_001407976.1:c.808G>T NP_001394905.1:p.Glu270Ter nonsense NM_001407977.1:c.808G>T NP_001394906.1:p.Glu270Ter nonsense NM_001407978.1:c.808G>T NP_001394907.1:p.Glu270Ter nonsense NM_001407979.1:c.808G>T NP_001394908.1:p.Glu270Ter nonsense NM_001407980.1:c.808G>T NP_001394909.1:p.Glu270Ter nonsense NM_001407981.1:c.808G>T NP_001394910.1:p.Glu270Ter nonsense NM_001407982.1:c.808G>T NP_001394911.1:p.Glu270Ter nonsense NM_001407983.1:c.808G>T NP_001394912.1:p.Glu270Ter nonsense NM_001407984.1:c.805G>T NP_001394913.1:p.Glu269Ter nonsense NM_001407985.1:c.805G>T NP_001394914.1:p.Glu269Ter nonsense NM_001407986.1:c.805G>T NP_001394915.1:p.Glu269Ter nonsense NM_001407990.1:c.808G>T NP_001394919.1:p.Glu270Ter nonsense NM_001407991.1:c.805G>T NP_001394920.1:p.Glu269Ter nonsense NM_001407992.1:c.805G>T NP_001394921.1:p.Glu269Ter nonsense NM_001407993.1:c.808G>T NP_001394922.1:p.Glu270Ter nonsense NM_001408392.1:c.805G>T NP_001395321.1:p.Glu269Ter nonsense NM_001408396.1:c.805G>T NP_001395325.1:p.Glu269Ter nonsense NM_001408397.1:c.805G>T NP_001395326.1:p.Glu269Ter nonsense NM_001408398.1:c.805G>T NP_001395327.1:p.Glu269Ter nonsense NM_001408399.1:c.805G>T NP_001395328.1:p.Glu269Ter nonsense NM_001408400.1:c.805G>T NP_001395329.1:p.Glu269Ter nonsense NM_001408401.1:c.805G>T NP_001395330.1:p.Glu269Ter nonsense NM_001408402.1:c.805G>T NP_001395331.1:p.Glu269Ter nonsense NM_001408403.1:c.808G>T NP_001395332.1:p.Glu270Ter nonsense NM_001408404.1:c.808G>T NP_001395333.1:p.Glu270Ter nonsense NM_001408406.1:c.802G>T NP_001395335.1:p.Glu268Ter nonsense NM_001408407.1:c.805G>T NP_001395336.1:p.Glu269Ter nonsense NM_001408408.1:c.799G>T NP_001395337.1:p.Glu267Ter nonsense NM_001408409.1:c.730G>T NP_001395338.1:p.Glu244Ter nonsense NM_001408410.1:c.667G>T NP_001395339.1:p.Glu223Ter nonsense NM_001408411.1:c.730G>T NP_001395340.1:p.Glu244Ter nonsense NM_001408412.1:c.730G>T NP_001395341.1:p.Glu244Ter nonsense NM_001408413.1:c.727G>T NP_001395342.1:p.Glu243Ter nonsense NM_001408414.1:c.730G>T NP_001395343.1:p.Glu244Ter nonsense NM_001408415.1:c.730G>T NP_001395344.1:p.Glu244Ter nonsense NM_001408416.1:c.727G>T NP_001395345.1:p.Glu243Ter nonsense NM_001408418.1:c.691G>T NP_001395347.1:p.Glu231Ter nonsense NM_001408419.1:c.691G>T NP_001395348.1:p.Glu231Ter nonsense NM_001408420.1:c.691G>T NP_001395349.1:p.Glu231Ter nonsense NM_001408421.1:c.688G>T NP_001395350.1:p.Glu230Ter nonsense NM_001408422.1:c.691G>T NP_001395351.1:p.Glu231Ter nonsense NM_001408423.1:c.691G>T NP_001395352.1:p.Glu231Ter nonsense NM_001408424.1:c.688G>T NP_001395353.1:p.Glu230Ter nonsense NM_001408425.1:c.685G>T NP_001395354.1:p.Glu229Ter nonsense NM_001408426.1:c.685G>T NP_001395355.1:p.Glu229Ter nonsense NM_001408427.1:c.685G>T NP_001395356.1:p.Glu229Ter nonsense NM_001408428.1:c.685G>T NP_001395357.1:p.Glu229Ter nonsense NM_001408429.1:c.685G>T NP_001395358.1:p.Glu229Ter nonsense NM_001408430.1:c.685G>T NP_001395359.1:p.Glu229Ter nonsense NM_001408431.1:c.688G>T NP_001395360.1:p.Glu230Ter nonsense NM_001408432.1:c.682G>T NP_001395361.1:p.Glu228Ter nonsense NM_001408433.1:c.682G>T NP_001395362.1:p.Glu228Ter nonsense NM_001408434.1:c.682G>T NP_001395363.1:p.Glu228Ter nonsense NM_001408435.1:c.682G>T NP_001395364.1:p.Glu228Ter nonsense NM_001408436.1:c.685G>T NP_001395365.1:p.Glu229Ter nonsense NM_001408437.1:c.685G>T NP_001395366.1:p.Glu229Ter nonsense NM_001408438.1:c.685G>T NP_001395367.1:p.Glu229Ter nonsense NM_001408439.1:c.685G>T NP_001395368.1:p.Glu229Ter nonsense NM_001408440.1:c.685G>T NP_001395369.1:p.Glu229Ter nonsense NM_001408441.1:c.685G>T NP_001395370.1:p.Glu229Ter nonsense NM_001408442.1:c.685G>T NP_001395371.1:p.Glu229Ter nonsense NM_001408443.1:c.685G>T NP_001395372.1:p.Glu229Ter nonsense NM_001408444.1:c.685G>T NP_001395373.1:p.Glu229Ter nonsense NM_001408445.1:c.682G>T NP_001395374.1:p.Glu228Ter nonsense NM_001408446.1:c.682G>T NP_001395375.1:p.Glu228Ter nonsense NM_001408447.1:c.682G>T NP_001395376.1:p.Glu228Ter nonsense NM_001408448.1:c.682G>T NP_001395377.1:p.Glu228Ter nonsense NM_001408450.1:c.682G>T NP_001395379.1:p.Glu228Ter nonsense NM_001408451.1:c.673G>T NP_001395380.1:p.Glu225Ter nonsense NM_001408452.1:c.667G>T NP_001395381.1:p.Glu223Ter nonsense NM_001408453.1:c.667G>T NP_001395382.1:p.Glu223Ter nonsense NM_001408454.1:c.667G>T NP_001395383.1:p.Glu223Ter nonsense NM_001408455.1:c.667G>T NP_001395384.1:p.Glu223Ter nonsense NM_001408456.1:c.667G>T NP_001395385.1:p.Glu223Ter nonsense NM_001408457.1:c.667G>T NP_001395386.1:p.Glu223Ter nonsense NM_001408458.1:c.667G>T NP_001395387.1:p.Glu223Ter nonsense NM_001408459.1:c.667G>T NP_001395388.1:p.Glu223Ter nonsense NM_001408460.1:c.667G>T NP_001395389.1:p.Glu223Ter nonsense NM_001408461.1:c.667G>T NP_001395390.1:p.Glu223Ter nonsense NM_001408462.1:c.664G>T NP_001395391.1:p.Glu222Ter nonsense NM_001408463.1:c.664G>T NP_001395392.1:p.Glu222Ter nonsense NM_001408464.1:c.664G>T NP_001395393.1:p.Glu222Ter nonsense NM_001408465.1:c.664G>T NP_001395394.1:p.Glu222Ter nonsense NM_001408466.1:c.667G>T NP_001395395.1:p.Glu223Ter nonsense NM_001408467.1:c.667G>T NP_001395396.1:p.Glu223Ter nonsense NM_001408468.1:c.664G>T NP_001395397.1:p.Glu222Ter nonsense NM_001408469.1:c.667G>T NP_001395398.1:p.Glu223Ter nonsense NM_001408470.1:c.664G>T NP_001395399.1:p.Glu222Ter nonsense NM_001408472.1:c.808G>T NP_001395401.1:p.Glu270Ter nonsense NM_001408473.1:c.805G>T NP_001395402.1:p.Glu269Ter nonsense NM_001408474.1:c.607G>T NP_001395403.1:p.Glu203Ter nonsense NM_001408475.1:c.604G>T NP_001395404.1:p.Glu202Ter nonsense NM_001408476.1:c.607G>T NP_001395405.1:p.Glu203Ter nonsense NM_001408478.1:c.598G>T NP_001395407.1:p.Glu200Ter nonsense NM_001408479.1:c.598G>T NP_001395408.1:p.Glu200Ter nonsense NM_001408480.1:c.598G>T NP_001395409.1:p.Glu200Ter nonsense NM_001408481.1:c.598G>T NP_001395410.1:p.Glu200Ter nonsense NM_001408482.1:c.598G>T NP_001395411.1:p.Glu200Ter nonsense NM_001408483.1:c.598G>T NP_001395412.1:p.Glu200Ter nonsense NM_001408484.1:c.598G>T NP_001395413.1:p.Glu200Ter nonsense NM_001408485.1:c.598G>T NP_001395414.1:p.Glu200Ter nonsense NM_001408489.1:c.598G>T NP_001395418.1:p.Glu200Ter nonsense NM_001408490.1:c.595G>T NP_001395419.1:p.Glu199Ter nonsense NM_001408491.1:c.595G>T NP_001395420.1:p.Glu199Ter nonsense NM_001408492.1:c.598G>T NP_001395421.1:p.Glu200Ter nonsense NM_001408493.1:c.595G>T NP_001395422.1:p.Glu199Ter nonsense NM_001408494.1:c.568G>T NP_001395423.1:p.Glu190Ter nonsense NM_001408495.1:c.565G>T NP_001395424.1:p.Glu189Ter nonsense NM_001408496.1:c.544G>T NP_001395425.1:p.Glu182Ter nonsense NM_001408497.1:c.544G>T NP_001395426.1:p.Glu182Ter nonsense NM_001408498.1:c.544G>T NP_001395427.1:p.Glu182Ter nonsense NM_001408499.1:c.544G>T NP_001395428.1:p.Glu182Ter nonsense NM_001408500.1:c.544G>T NP_001395429.1:p.Glu182Ter nonsense NM_001408501.1:c.544G>T NP_001395430.1:p.Glu182Ter nonsense NM_001408502.1:c.475G>T NP_001395431.1:p.Glu159Ter nonsense NM_001408503.1:c.541G>T NP_001395432.1:p.Glu181Ter nonsense NM_001408504.1:c.541G>T NP_001395433.1:p.Glu181Ter nonsense NM_001408505.1:c.541G>T NP_001395434.1:p.Glu181Ter nonsense NM_001408506.1:c.481G>T NP_001395435.1:p.Glu161Ter nonsense NM_001408507.1:c.481G>T NP_001395436.1:p.Glu161Ter nonsense NM_001408508.1:c.472G>T NP_001395437.1:p.Glu158Ter nonsense NM_001408509.1:c.472G>T NP_001395438.1:p.Glu158Ter nonsense NM_001408510.1:c.427G>T NP_001395439.1:p.Glu143Ter nonsense NM_001408511.1:c.424G>T NP_001395440.1:p.Glu142Ter nonsense NM_001408512.1:c.304G>T NP_001395441.1:p.Glu102Ter nonsense NM_001408513.1:c.598G>T NP_001395442.1:p.Glu200Ter nonsense NM_001408514.1:c.598G>T NP_001395443.1:p.Glu200Ter nonsense NM_007297.4:c.3976G>T NP_009228.2:p.Glu1326Ter nonsense NM_007298.4:c.808G>T NP_009229.2:p.Glu270Ter nonsense NM_007299.4:c.808G>T NP_009230.2:p.Glu270Ter nonsense NM_007300.3:c.4117G>T NM_007300.4:c.4117G>T NP_009231.2:p.Glu1373Ter nonsense NM_007304.2:c.808G>T NP_009235.2:p.Glu270Ter nonsense NR_027676.2:n.4294G>T non-coding transcript variant NC_000017.11:g.43091012C>A NC_000017.10:g.41243029C>A NG_005905.2:g.126972G>T LRG_292:g.126972G>T LRG_292t1:c.4117G>T LRG_292p1:p.Glu1373Ter U14680.1:n.4236G>T - Protein change
- E1373*, E270*, E1326*, E102*, E1077*, E1261*, E1303*, E1332*, E161*, E181*, E202*, E230*, E267*, E269*, E1246*, E1285*, E1331*, E158*, E199*, E229*, E243*, E505*, E1245*, E1284*, E1302*, E1306*, E1347*, E1370*, E1372*, E143*, E159*, E182*, E190*, E200*, E203*, E223*, E228*, E231*, E244*, E1205*, E1262*, E1305*, E1325*, E1346*, E142*, E189*, E222*, E225*, E268*
- Other names
- p.E1373*:GAG>TAG
- 4236G>T
- Canonical SPDI
- NC_000017.11:43091011:C: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 |
- | - |
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 (8) |
reviewed by expert panel
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Sep 8, 2016 | RCV000031150.23 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Mar 6, 2023 | RCV000074589.19 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Jan 18, 2024 | RCV000048449.21 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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May 23, 2023 | RCV000162872.18 | |
Pathogenic (1) |
no assertion criteria provided
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Mar 21, 2002 | RCV000735478.9 | |
Pathogenic (1) |
no assertion criteria provided
|
- | RCV001353510.9 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Sep 08, 2016)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000300075.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
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Pathogenic
(Mar 06, 2023)
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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: SCV000108674.13
First in ClinVar: Dec 10, 2013 Last updated: Mar 18, 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 … (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); Observed in individuals with a personal or family history consistent with pathogenic variants in this gene (Nedelcu et al., 2002; Kadouri et al., 2007; Veschi et al., 2007; Grant et al., 2015; Lolas Hamameh et al., 2017); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 4236G>T; This variant is associated with the following publications: (PMID: 11179017, 23958087, 26219728, 34290354, 31336956, 32438681, 28888541, 25479140, 25722380, 17591842, 26306726, 17233897, 11938448, 25525159, 26187060, 28152038, 27928164, 29907814, 28486781, 11773283, 23996866, 12655515, 11870168, 30606148, 29484706, 29446198, 32733560, 31589614) (less)
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Pathogenic
(Nov 07, 2022)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004216888.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Pathogenic
(Nov 23, 2018)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001133576.3
First in ClinVar: Jan 04, 2020 Last updated: Jan 03, 2022 |
Comment:
The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one … (more)
The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data. (less)
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Pathogenic
(Aug 22, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001363929.2
First in ClinVar: Jun 22, 2020 Last updated: Sep 17, 2022 |
Comment:
Variant summary: BRCA1 c.4117G>T (p.Glu1373X) 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.4117G>T (p.Glu1373X) 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 was absent in 248774 control chromosomes (gnomAD). c.4117G>T has been reported in the literature in multiple individuals with breast and/or ovarian cancer, including individuals from families affected with Hereditary Breast And Ovarian Cancer Syndrome (e.g. Risch_2001, Nedelcu_2002, Kadouri_2007, Giannini_2006, Capalbo_2006, Safra_2013, Marchetti_2018, Santonocito_2020) . These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Eight submitters, including an expert panel (ENIGMA) have provided clinical-significance assessments for this variant to ClinVar after 2014 and all classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Oct 02, 2015)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000325854.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(Sep 11, 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:
unknown
|
Counsyl
Accession: SCV000677652.2
First in ClinVar: Jan 06, 2018 Last updated: Dec 24, 2022 |
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Pathogenic
(May 31, 2023)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
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KCCC/NGS Laboratory, Kuwait Cancer Control Center
Accession: SCV003927265.1
First in ClinVar: Jun 03, 2023 Last updated: Jun 03, 2023 |
Comment:
A known pathogenic variant was detected in BRCA1 gene (c.4117G>T). This sequence change creates a premature translational stop signal (p.Glul373*) in the BRCA1 gene. It … (more)
A known pathogenic variant was detected in BRCA1 gene (c.4117G>T). This sequence change creates a premature translational stop signal (p.Glul373*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast and ovarian cancer (PMID: 11179017, 17591842, 26219728). This variant is also known as 4236G>T. ClinVar contains an entry for this variant (Variation ID: 37569). For these reasons, this variant has been classified as Pathogenic. (less)
Age: 50-59 years
Sex: female
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Pathogenic
(May 23, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV000537657.4
First in ClinVar: Sep 24, 2016 Last updated: Feb 14, 2024 |
Comment:
This variant changes 1 nucleotide in exon 11 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 11 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 two dozen individuals affected with breast and/or ovarian cancer (PMID: 11179017, 11773283, 17233897, 17591842, 30128899, 32438681), and this variant was also found to segregate with breast, ovarian or pancreatic cancer in one family (PMID: 17233897). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
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Pathogenic
(Jan 18, 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: SCV000076462.11
First in ClinVar: Jul 03, 2013 Last updated: Feb 20, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Glu1373*) 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.Glu1373*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast and ovarian cancer (PMID: 11179017, 17591842, 26219728). This variant is also known as 4236G>T. ClinVar contains an entry for this variant (Variation ID: 37569). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Mar 28, 2023)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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All of Us Research Program, National Institutes of Health
Accession: SCV004817709.1
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)
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Comment:
The c.4117G>T (p.Glu1373*) variant of the BRCA1 gene creates an early stop codon. It is expected to result in an absent or disrupted protein product. … (more)
The c.4117G>T (p.Glu1373*) variant of the BRCA1 gene creates an early stop codon. It is expected to result in an absent or disrupted protein product. This variant has been reported in multiple individuals with breast and ovarian cancer (PMID: 11179017, 11773283, 11938448, 16760289, 17233897, 17591842, 26219728, 28486781, 29907814, 30128899). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 21989022, 17661172, 22762150). Therefore, the c.4117G>T (p.Glu1373*) variant of the BRCA1 gene is classified as pathogenic. (less)
Number of individuals with the variant: 1
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Pathogenic
(Jul 26, 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: SCV000213359.7
First in ClinVar: Mar 24, 2015 Last updated: May 01, 2024 |
Comment:
The p.E1373* pathogenic mutation (also known as c.4117G>T) located in coding exon 10 of the BRCA1 gene, results from a G to T substitution at … (more)
The p.E1373* pathogenic mutation (also known as c.4117G>T) located in coding exon 10 of the BRCA1 gene, results from a G to T substitution at nucleotide position 4117. This changes the amino acid from a glutamic acid to a stop codon within coding exon 10. This alteration has been identified in several individuals with hereditary breast and/or ovarian cancer (HBOC) syndrome (Risch HA et al. Am. J. Hum. Genet. 2001 Mar; 68(3):700-10. Kadouri L et al. BMC Cancer 2007; 7:14. Geisler JP et al. J. Natl. Cancer Inst. 2002 Jan; 94(1):61-7; Lolas Hamameh S et al. Int. J. Cancer. 2017 Aug;141(4):750-756; Palmero E et al. Sci Rep 2018 Jun;8(1):9188). 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
(Mar 21, 2002)
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no assertion criteria provided
Method: clinical testing
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Breast and/or ovarian cancer
Affected status: unknown
Allele origin:
germline
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Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000863615.1 First in ClinVar: Dec 24, 2018 Last updated: Dec 24, 2018 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Malignant tumor of breast
Affected status: yes
Allele origin:
unknown
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Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000591492.2 First in ClinVar: Aug 05, 2017 Last updated: Apr 13, 2021 |
Comment:
The BRCA1 p.Glu1373X variant was identified in 5 of 2418 proband chromosomes (frequency: 0.002) from individuals or families with breast or ovarian cancer, and was … (more)
The BRCA1 p.Glu1373X variant was identified in 5 of 2418 proband chromosomes (frequency: 0.002) from individuals or families with breast or ovarian cancer, and was not identified in 300 control chromosomes from healthy individuals (Al-Ansari 2013, Burcos 2013, Geisler 2002, Kadouri 2007, Risch 2001, Scheuer 2002). The variant was also previously identified by our laboratory in an individual with breast cancer. The variant was also identified in dbSNP (ID: rs80357259) “With pathogenic allele”, HGMD, the BIC database (9X with clinical importance), and UMD (1X as a causal variant). The variant was classified as a pathogenic variant by the Sharing Clinical Reports Project (SCRP) (submitted within the ClinVar database and derived from Myriad reports). The p.Glu1373X variant leads to a premature stop codon at position 1373, which is predicted to lead to a truncated or absent protein and loss of function. Loss of function variants of the BRCA1 gene are an established mechanism of disease in hereditary breast and ovarian cancer and is the type of variant expected to cause the disorder. In summary, based on the above information, this variant meets our laboratory’s criteria to be classified as pathogenic. (less)
Number of individuals with the variant: 3
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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: SCV000144987.1
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
Ethnicity/Population group: Caucasian
Observation 3:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: Italy
Observation 4:
Number of individuals with the variant: 1
Ethnicity/Population group: Italian
Observation 5:
Number of individuals with the variant: 2
Ethnicity/Population group: Western European
Observation 6:
Number of individuals with the variant: 2
Ethnicity/Population group: Western European, Italian
Observation 7:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European, Native American
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Pathogenic
(May 01, 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: SCV000053750.5
First in ClinVar: Apr 04, 2013 Last updated: Sep 27, 2014 |
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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: SCV000587375.1 First in ClinVar: Aug 05, 2017 Last updated: Aug 05, 2017 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
- | - | - | - | PMID: 11179017 |
- | - | - | - | PMID: 11773283 |
- | - | - | - | PMID: 11938448 |
- | - | - | - | PMID: 16267036 |
- | - | - | - | PMID: 16760289 |
- | - | - | - | PMID: 16847550 |
- | - | - | - | PMID: 17233897 |
- | - | - | - | PMID: 17591842 |
- | - | - | - | PMID: 17661172 |
- | - | - | - | PMID: 20104584 |
- | - | - | - | PMID: 21989022 |
- | - | - | - | PMID: 22762150 |
- | - | - | - | PMID: 24131973 |
- | - | - | - | PMID: 25525159 |
- | - | - | - | PMID: 26187060 |
- | - | - | - | PMID: 26219728 |
- | - | - | - | PMID: 29907814 |
- | - | - | - | PMID: 30128899 |
- | - | - | - | PMID: 32438681 |
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Text-mined citations for rs80357259 ...
HelpRecord last updated Jun 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.