ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4094T>G (p.Leu1365Ter)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.4094T>G (p.Leu1365Ter)
Variation ID: 91623 Accession: VCV000091623.12
- Type and length
-
single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43091437 (GRCh38) [ NCBI UCSC ] 17: 41243454 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 Sep 27, 2014 Feb 14, 2024 Sep 8, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.4094T>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Leu1365Ter nonsense NM_001407571.1:c.3881T>G NP_001394500.1:p.Leu1294Ter nonsense NM_001407581.1:c.4094T>G NP_001394510.1:p.Leu1365Ter nonsense NM_001407582.1:c.4094T>G NP_001394511.1:p.Leu1365Ter nonsense NM_001407583.1:c.4094T>G NP_001394512.1:p.Leu1365Ter nonsense NM_001407585.1:c.4094T>G NP_001394514.1:p.Leu1365Ter nonsense NM_001407587.1:c.4091T>G NP_001394516.1:p.Leu1364Ter nonsense NM_001407590.1:c.4091T>G NP_001394519.1:p.Leu1364Ter nonsense NM_001407591.1:c.4091T>G NP_001394520.1:p.Leu1364Ter nonsense NM_001407593.1:c.4094T>G NP_001394522.1:p.Leu1365Ter nonsense NM_001407594.1:c.4094T>G NP_001394523.1:p.Leu1365Ter nonsense NM_001407596.1:c.4094T>G NP_001394525.1:p.Leu1365Ter nonsense NM_001407597.1:c.4094T>G NP_001394526.1:p.Leu1365Ter nonsense NM_001407598.1:c.4094T>G NP_001394527.1:p.Leu1365Ter nonsense NM_001407602.1:c.4094T>G NP_001394531.1:p.Leu1365Ter nonsense NM_001407603.1:c.4094T>G NP_001394532.1:p.Leu1365Ter nonsense NM_001407605.1:c.4094T>G NP_001394534.1:p.Leu1365Ter nonsense NM_001407610.1:c.4091T>G NP_001394539.1:p.Leu1364Ter nonsense NM_001407611.1:c.4091T>G NP_001394540.1:p.Leu1364Ter nonsense NM_001407612.1:c.4091T>G NP_001394541.1:p.Leu1364Ter nonsense NM_001407613.1:c.4091T>G NP_001394542.1:p.Leu1364Ter nonsense NM_001407614.1:c.4091T>G NP_001394543.1:p.Leu1364Ter nonsense NM_001407615.1:c.4091T>G NP_001394544.1:p.Leu1364Ter nonsense NM_001407616.1:c.4094T>G NP_001394545.1:p.Leu1365Ter nonsense NM_001407617.1:c.4094T>G NP_001394546.1:p.Leu1365Ter nonsense NM_001407618.1:c.4094T>G NP_001394547.1:p.Leu1365Ter nonsense NM_001407619.1:c.4094T>G NP_001394548.1:p.Leu1365Ter nonsense NM_001407620.1:c.4094T>G NP_001394549.1:p.Leu1365Ter nonsense NM_001407621.1:c.4094T>G NP_001394550.1:p.Leu1365Ter nonsense NM_001407622.1:c.4094T>G NP_001394551.1:p.Leu1365Ter nonsense NM_001407623.1:c.4094T>G NP_001394552.1:p.Leu1365Ter nonsense NM_001407624.1:c.4094T>G NP_001394553.1:p.Leu1365Ter nonsense NM_001407625.1:c.4094T>G NP_001394554.1:p.Leu1365Ter nonsense NM_001407626.1:c.4094T>G NP_001394555.1:p.Leu1365Ter nonsense NM_001407627.1:c.4091T>G NP_001394556.1:p.Leu1364Ter nonsense NM_001407628.1:c.4091T>G NP_001394557.1:p.Leu1364Ter nonsense NM_001407629.1:c.4091T>G NP_001394558.1:p.Leu1364Ter nonsense NM_001407630.1:c.4091T>G NP_001394559.1:p.Leu1364Ter nonsense NM_001407631.1:c.4091T>G NP_001394560.1:p.Leu1364Ter nonsense NM_001407632.1:c.4091T>G NP_001394561.1:p.Leu1364Ter nonsense NM_001407633.1:c.4091T>G NP_001394562.1:p.Leu1364Ter nonsense NM_001407634.1:c.4091T>G NP_001394563.1:p.Leu1364Ter nonsense NM_001407635.1:c.4091T>G NP_001394564.1:p.Leu1364Ter nonsense NM_001407636.1:c.4091T>G NP_001394565.1:p.Leu1364Ter nonsense NM_001407637.1:c.4091T>G NP_001394566.1:p.Leu1364Ter nonsense NM_001407638.1:c.4091T>G NP_001394567.1:p.Leu1364Ter nonsense NM_001407639.1:c.4094T>G NP_001394568.1:p.Leu1365Ter nonsense NM_001407640.1:c.4094T>G NP_001394569.1:p.Leu1365Ter nonsense NM_001407641.1:c.4094T>G NP_001394570.1:p.Leu1365Ter nonsense NM_001407642.1:c.4094T>G NP_001394571.1:p.Leu1365Ter nonsense NM_001407644.1:c.4091T>G NP_001394573.1:p.Leu1364Ter nonsense NM_001407645.1:c.4091T>G NP_001394574.1:p.Leu1364Ter nonsense NM_001407646.1:c.4085T>G NP_001394575.1:p.Leu1362Ter nonsense NM_001407647.1:c.4085T>G NP_001394576.1:p.Leu1362Ter nonsense NM_001407648.1:c.3971T>G NP_001394577.1:p.Leu1324Ter nonsense NM_001407649.1:c.3968T>G NP_001394578.1:p.Leu1323Ter nonsense NM_001407652.1:c.4094T>G NP_001394581.1:p.Leu1365Ter nonsense NM_001407653.1:c.4016T>G NP_001394582.1:p.Leu1339Ter nonsense NM_001407654.1:c.4016T>G NP_001394583.1:p.Leu1339Ter nonsense NM_001407655.1:c.4016T>G NP_001394584.1:p.Leu1339Ter nonsense NM_001407656.1:c.4016T>G NP_001394585.1:p.Leu1339Ter nonsense NM_001407657.1:c.4016T>G NP_001394586.1:p.Leu1339Ter nonsense NM_001407658.1:c.4016T>G NP_001394587.1:p.Leu1339Ter nonsense NM_001407659.1:c.4013T>G NP_001394588.1:p.Leu1338Ter nonsense NM_001407660.1:c.4013T>G NP_001394589.1:p.Leu1338Ter nonsense NM_001407661.1:c.4013T>G NP_001394590.1:p.Leu1338Ter nonsense NM_001407662.1:c.4013T>G NP_001394591.1:p.Leu1338Ter nonsense NM_001407663.1:c.4016T>G NP_001394592.1:p.Leu1339Ter nonsense NM_001407664.1:c.3971T>G NP_001394593.1:p.Leu1324Ter nonsense NM_001407665.1:c.3971T>G NP_001394594.1:p.Leu1324Ter nonsense NM_001407666.1:c.3971T>G NP_001394595.1:p.Leu1324Ter nonsense NM_001407667.1:c.3971T>G NP_001394596.1:p.Leu1324Ter nonsense NM_001407668.1:c.3971T>G NP_001394597.1:p.Leu1324Ter nonsense NM_001407669.1:c.3971T>G NP_001394598.1:p.Leu1324Ter nonsense NM_001407670.1:c.3968T>G NP_001394599.1:p.Leu1323Ter nonsense NM_001407671.1:c.3968T>G NP_001394600.1:p.Leu1323Ter nonsense NM_001407672.1:c.3968T>G NP_001394601.1:p.Leu1323Ter nonsense NM_001407673.1:c.3968T>G NP_001394602.1:p.Leu1323Ter nonsense NM_001407674.1:c.3971T>G NP_001394603.1:p.Leu1324Ter nonsense NM_001407675.1:c.3971T>G NP_001394604.1:p.Leu1324Ter nonsense NM_001407676.1:c.3971T>G NP_001394605.1:p.Leu1324Ter nonsense NM_001407677.1:c.3971T>G NP_001394606.1:p.Leu1324Ter nonsense NM_001407678.1:c.3971T>G NP_001394607.1:p.Leu1324Ter nonsense NM_001407679.1:c.3971T>G NP_001394608.1:p.Leu1324Ter nonsense NM_001407680.1:c.3971T>G NP_001394609.1:p.Leu1324Ter nonsense NM_001407681.1:c.3971T>G NP_001394610.1:p.Leu1324Ter nonsense NM_001407682.1:c.3971T>G NP_001394611.1:p.Leu1324Ter nonsense NM_001407683.1:c.3971T>G NP_001394612.1:p.Leu1324Ter nonsense NM_001407684.1:c.4094T>G NP_001394613.1:p.Leu1365Ter nonsense NM_001407685.1:c.3968T>G NP_001394614.1:p.Leu1323Ter nonsense NM_001407686.1:c.3968T>G NP_001394615.1:p.Leu1323Ter nonsense NM_001407687.1:c.3968T>G NP_001394616.1:p.Leu1323Ter nonsense NM_001407688.1:c.3968T>G NP_001394617.1:p.Leu1323Ter nonsense NM_001407689.1:c.3968T>G NP_001394618.1:p.Leu1323Ter nonsense NM_001407690.1:c.3968T>G NP_001394619.1:p.Leu1323Ter nonsense NM_001407691.1:c.3968T>G NP_001394620.1:p.Leu1323Ter nonsense NM_001407692.1:c.3953T>G NP_001394621.1:p.Leu1318Ter nonsense NM_001407694.1:c.3953T>G NP_001394623.1:p.Leu1318Ter nonsense NM_001407695.1:c.3953T>G NP_001394624.1:p.Leu1318Ter nonsense NM_001407696.1:c.3953T>G NP_001394625.1:p.Leu1318Ter nonsense NM_001407697.1:c.3953T>G NP_001394626.1:p.Leu1318Ter nonsense NM_001407698.1:c.3953T>G NP_001394627.1:p.Leu1318Ter nonsense NM_001407724.1:c.3953T>G NP_001394653.1:p.Leu1318Ter nonsense NM_001407725.1:c.3953T>G NP_001394654.1:p.Leu1318Ter nonsense NM_001407726.1:c.3953T>G NP_001394655.1:p.Leu1318Ter nonsense NM_001407727.1:c.3953T>G NP_001394656.1:p.Leu1318Ter nonsense NM_001407728.1:c.3953T>G NP_001394657.1:p.Leu1318Ter nonsense NM_001407729.1:c.3953T>G NP_001394658.1:p.Leu1318Ter nonsense NM_001407730.1:c.3953T>G NP_001394659.1:p.Leu1318Ter nonsense NM_001407731.1:c.3953T>G NP_001394660.1:p.Leu1318Ter nonsense NM_001407732.1:c.3953T>G NP_001394661.1:p.Leu1318Ter nonsense NM_001407733.1:c.3953T>G NP_001394662.1:p.Leu1318Ter nonsense NM_001407734.1:c.3953T>G NP_001394663.1:p.Leu1318Ter nonsense NM_001407735.1:c.3953T>G NP_001394664.1:p.Leu1318Ter nonsense NM_001407736.1:c.3953T>G NP_001394665.1:p.Leu1318Ter nonsense NM_001407737.1:c.3953T>G NP_001394666.1:p.Leu1318Ter nonsense NM_001407738.1:c.3953T>G NP_001394667.1:p.Leu1318Ter nonsense NM_001407739.1:c.3953T>G NP_001394668.1:p.Leu1318Ter nonsense NM_001407740.1:c.3950T>G NP_001394669.1:p.Leu1317Ter nonsense NM_001407741.1:c.3950T>G NP_001394670.1:p.Leu1317Ter nonsense NM_001407742.1:c.3950T>G NP_001394671.1:p.Leu1317Ter nonsense NM_001407743.1:c.3950T>G NP_001394672.1:p.Leu1317Ter nonsense NM_001407744.1:c.3950T>G NP_001394673.1:p.Leu1317Ter nonsense NM_001407745.1:c.3950T>G NP_001394674.1:p.Leu1317Ter nonsense NM_001407746.1:c.3950T>G NP_001394675.1:p.Leu1317Ter nonsense NM_001407747.1:c.3950T>G NP_001394676.1:p.Leu1317Ter nonsense NM_001407748.1:c.3950T>G NP_001394677.1:p.Leu1317Ter nonsense NM_001407749.1:c.3950T>G NP_001394678.1:p.Leu1317Ter nonsense NM_001407750.1:c.3953T>G NP_001394679.1:p.Leu1318Ter nonsense NM_001407751.1:c.3953T>G NP_001394680.1:p.Leu1318Ter nonsense NM_001407752.1:c.3953T>G NP_001394681.1:p.Leu1318Ter nonsense NM_001407838.1:c.3950T>G NP_001394767.1:p.Leu1317Ter nonsense NM_001407839.1:c.3950T>G NP_001394768.1:p.Leu1317Ter nonsense NM_001407841.1:c.3950T>G NP_001394770.1:p.Leu1317Ter nonsense NM_001407842.1:c.3950T>G NP_001394771.1:p.Leu1317Ter nonsense NM_001407843.1:c.3950T>G NP_001394772.1:p.Leu1317Ter nonsense NM_001407844.1:c.3950T>G NP_001394773.1:p.Leu1317Ter nonsense NM_001407845.1:c.3950T>G NP_001394774.1:p.Leu1317Ter nonsense NM_001407846.1:c.3950T>G NP_001394775.1:p.Leu1317Ter nonsense NM_001407847.1:c.3950T>G NP_001394776.1:p.Leu1317Ter nonsense NM_001407848.1:c.3950T>G NP_001394777.1:p.Leu1317Ter nonsense NM_001407849.1:c.3950T>G NP_001394778.1:p.Leu1317Ter nonsense NM_001407850.1:c.3953T>G NP_001394779.1:p.Leu1318Ter nonsense NM_001407851.1:c.3953T>G NP_001394780.1:p.Leu1318Ter nonsense NM_001407852.1:c.3953T>G NP_001394781.1:p.Leu1318Ter nonsense NM_001407853.1:c.3881T>G NP_001394782.1:p.Leu1294Ter nonsense NM_001407854.1:c.4094T>G NP_001394783.1:p.Leu1365Ter nonsense NM_001407858.1:c.4094T>G NP_001394787.1:p.Leu1365Ter nonsense NM_001407859.1:c.4094T>G NP_001394788.1:p.Leu1365Ter nonsense NM_001407860.1:c.4091T>G NP_001394789.1:p.Leu1364Ter nonsense NM_001407861.1:c.4091T>G NP_001394790.1:p.Leu1364Ter nonsense NM_001407862.1:c.3893T>G NP_001394791.1:p.Leu1298Ter nonsense NM_001407863.1:c.3971T>G NP_001394792.1:p.Leu1324Ter nonsense NM_001407874.1:c.3890T>G NP_001394803.1:p.Leu1297Ter nonsense NM_001407875.1:c.3890T>G NP_001394804.1:p.Leu1297Ter nonsense NM_001407879.1:c.3884T>G NP_001394808.1:p.Leu1295Ter nonsense NM_001407881.1:c.3884T>G NP_001394810.1:p.Leu1295Ter nonsense NM_001407882.1:c.3884T>G NP_001394811.1:p.Leu1295Ter nonsense NM_001407884.1:c.3884T>G NP_001394813.1:p.Leu1295Ter nonsense NM_001407885.1:c.3884T>G NP_001394814.1:p.Leu1295Ter nonsense NM_001407886.1:c.3884T>G NP_001394815.1:p.Leu1295Ter nonsense NM_001407887.1:c.3884T>G NP_001394816.1:p.Leu1295Ter nonsense NM_001407889.1:c.3884T>G NP_001394818.1:p.Leu1295Ter nonsense NM_001407894.1:c.3881T>G NP_001394823.1:p.Leu1294Ter nonsense NM_001407895.1:c.3881T>G NP_001394824.1:p.Leu1294Ter nonsense NM_001407896.1:c.3881T>G NP_001394825.1:p.Leu1294Ter nonsense NM_001407897.1:c.3881T>G NP_001394826.1:p.Leu1294Ter nonsense NM_001407898.1:c.3881T>G NP_001394827.1:p.Leu1294Ter nonsense NM_001407899.1:c.3881T>G NP_001394828.1:p.Leu1294Ter nonsense NM_001407900.1:c.3884T>G NP_001394829.1:p.Leu1295Ter nonsense NM_001407902.1:c.3884T>G NP_001394831.1:p.Leu1295Ter nonsense NM_001407904.1:c.3884T>G NP_001394833.1:p.Leu1295Ter nonsense NM_001407906.1:c.3884T>G NP_001394835.1:p.Leu1295Ter nonsense NM_001407907.1:c.3884T>G NP_001394836.1:p.Leu1295Ter nonsense NM_001407908.1:c.3884T>G NP_001394837.1:p.Leu1295Ter nonsense NM_001407909.1:c.3884T>G NP_001394838.1:p.Leu1295Ter nonsense NM_001407910.1:c.3884T>G NP_001394839.1:p.Leu1295Ter nonsense NM_001407915.1:c.3881T>G NP_001394844.1:p.Leu1294Ter nonsense NM_001407916.1:c.3881T>G NP_001394845.1:p.Leu1294Ter nonsense NM_001407917.1:c.3881T>G NP_001394846.1:p.Leu1294Ter nonsense NM_001407918.1:c.3881T>G NP_001394847.1:p.Leu1294Ter nonsense NM_001407919.1:c.3971T>G NP_001394848.1:p.Leu1324Ter nonsense NM_001407920.1:c.3830T>G NP_001394849.1:p.Leu1277Ter nonsense NM_001407921.1:c.3830T>G NP_001394850.1:p.Leu1277Ter nonsense NM_001407922.1:c.3830T>G NP_001394851.1:p.Leu1277Ter nonsense NM_001407923.1:c.3830T>G NP_001394852.1:p.Leu1277Ter nonsense NM_001407924.1:c.3830T>G NP_001394853.1:p.Leu1277Ter nonsense NM_001407925.1:c.3830T>G NP_001394854.1:p.Leu1277Ter nonsense NM_001407926.1:c.3830T>G NP_001394855.1:p.Leu1277Ter nonsense NM_001407927.1:c.3830T>G NP_001394856.1:p.Leu1277Ter nonsense NM_001407928.1:c.3830T>G NP_001394857.1:p.Leu1277Ter nonsense NM_001407929.1:c.3830T>G NP_001394858.1:p.Leu1277Ter nonsense NM_001407930.1:c.3827T>G NP_001394859.1:p.Leu1276Ter nonsense NM_001407931.1:c.3827T>G NP_001394860.1:p.Leu1276Ter nonsense NM_001407932.1:c.3827T>G NP_001394861.1:p.Leu1276Ter nonsense NM_001407933.1:c.3830T>G NP_001394862.1:p.Leu1277Ter nonsense NM_001407934.1:c.3827T>G NP_001394863.1:p.Leu1276Ter nonsense NM_001407935.1:c.3830T>G NP_001394864.1:p.Leu1277Ter nonsense NM_001407936.1:c.3827T>G NP_001394865.1:p.Leu1276Ter nonsense NM_001407937.1:c.3971T>G NP_001394866.1:p.Leu1324Ter nonsense NM_001407938.1:c.3971T>G NP_001394867.1:p.Leu1324Ter nonsense NM_001407939.1:c.3971T>G NP_001394868.1:p.Leu1324Ter nonsense NM_001407940.1:c.3968T>G NP_001394869.1:p.Leu1323Ter nonsense NM_001407941.1:c.3968T>G NP_001394870.1:p.Leu1323Ter nonsense NM_001407942.1:c.3953T>G NP_001394871.1:p.Leu1318Ter nonsense NM_001407943.1:c.3950T>G NP_001394872.1:p.Leu1317Ter nonsense NM_001407944.1:c.3953T>G NP_001394873.1:p.Leu1318Ter nonsense NM_001407945.1:c.3953T>G NP_001394874.1:p.Leu1318Ter nonsense NM_001407946.1:c.3761T>G NP_001394875.1:p.Leu1254Ter nonsense NM_001407947.1:c.3761T>G NP_001394876.1:p.Leu1254Ter nonsense NM_001407948.1:c.3761T>G NP_001394877.1:p.Leu1254Ter nonsense NM_001407949.1:c.3761T>G NP_001394878.1:p.Leu1254Ter nonsense NM_001407950.1:c.3761T>G NP_001394879.1:p.Leu1254Ter nonsense NM_001407951.1:c.3761T>G NP_001394880.1:p.Leu1254Ter nonsense NM_001407952.1:c.3761T>G NP_001394881.1:p.Leu1254Ter nonsense NM_001407953.1:c.3761T>G NP_001394882.1:p.Leu1254Ter nonsense NM_001407954.1:c.3758T>G NP_001394883.1:p.Leu1253Ter nonsense NM_001407955.1:c.3758T>G NP_001394884.1:p.Leu1253Ter nonsense NM_001407956.1:c.3758T>G NP_001394885.1:p.Leu1253Ter nonsense NM_001407957.1:c.3761T>G NP_001394886.1:p.Leu1254Ter nonsense NM_001407958.1:c.3758T>G NP_001394887.1:p.Leu1253Ter nonsense NM_001407959.1:c.3713T>G NP_001394888.1:p.Leu1238Ter nonsense NM_001407960.1:c.3713T>G NP_001394889.1:p.Leu1238Ter nonsense NM_001407962.1:c.3710T>G NP_001394891.1:p.Leu1237Ter nonsense NM_001407963.1:c.3713T>G NP_001394892.1:p.Leu1238Ter nonsense NM_001407964.1:c.3950T>G NP_001394893.1:p.Leu1317Ter nonsense NM_001407965.1:c.3590T>G NP_001394894.1:p.Leu1197Ter nonsense NM_001407966.1:c.3206T>G NP_001394895.1:p.Leu1069Ter nonsense NM_001407967.1:c.3206T>G NP_001394896.1:p.Leu1069Ter nonsense NM_001407968.1:c.1490T>G NP_001394897.1:p.Leu497Ter nonsense NM_001407969.1:c.1490T>G NP_001394898.1:p.Leu497Ter nonsense NM_001407970.1:c.788-405T>G intron variant NM_001407971.1:c.788-405T>G intron variant NM_001407972.1:c.785-405T>G intron variant NM_001407973.1:c.788-405T>G intron variant NM_001407974.1:c.788-405T>G intron variant NM_001407975.1:c.788-405T>G intron variant NM_001407976.1:c.788-405T>G intron variant NM_001407977.1:c.788-405T>G intron variant NM_001407978.1:c.788-405T>G intron variant NM_001407979.1:c.788-405T>G intron variant NM_001407980.1:c.788-405T>G intron variant NM_001407981.1:c.788-405T>G intron variant NM_001407982.1:c.788-405T>G intron variant NM_001407983.1:c.788-405T>G intron variant NM_001407984.1:c.785-405T>G intron variant NM_001407985.1:c.785-405T>G intron variant NM_001407986.1:c.785-405T>G intron variant NM_001407990.1:c.788-405T>G intron variant NM_001407991.1:c.785-405T>G intron variant NM_001407992.1:c.785-405T>G intron variant NM_001407993.1:c.788-405T>G intron variant NM_001408392.1:c.785-405T>G intron variant NM_001408396.1:c.785-405T>G intron variant NM_001408397.1:c.785-405T>G intron variant NM_001408398.1:c.785-405T>G intron variant NM_001408399.1:c.785-405T>G intron variant NM_001408400.1:c.785-405T>G intron variant NM_001408401.1:c.785-405T>G intron variant NM_001408402.1:c.785-405T>G intron variant NM_001408403.1:c.788-405T>G intron variant NM_001408404.1:c.788-405T>G intron variant NM_001408406.1:c.791-414T>G intron variant NM_001408407.1:c.785-405T>G intron variant NM_001408408.1:c.779-405T>G intron variant NM_001408409.1:c.710-405T>G intron variant NM_001408410.1:c.647-405T>G intron variant NM_001408411.1:c.710-405T>G intron variant NM_001408412.1:c.710-405T>G intron variant NM_001408413.1:c.707-405T>G intron variant NM_001408414.1:c.710-405T>G intron variant NM_001408415.1:c.710-405T>G intron variant NM_001408416.1:c.707-405T>G intron variant NM_001408418.1:c.671-405T>G intron variant NM_001408419.1:c.671-405T>G intron variant NM_001408420.1:c.671-405T>G intron variant NM_001408421.1:c.668-405T>G intron variant NM_001408422.1:c.671-405T>G intron variant NM_001408423.1:c.671-405T>G intron variant NM_001408424.1:c.668-405T>G intron variant NM_001408425.1:c.665-405T>G intron variant NM_001408426.1:c.665-405T>G intron variant NM_001408427.1:c.665-405T>G intron variant NM_001408428.1:c.665-405T>G intron variant NM_001408429.1:c.665-405T>G intron variant NM_001408430.1:c.665-405T>G intron variant NM_001408431.1:c.668-405T>G intron variant NM_001408432.1:c.662-405T>G intron variant NM_001408433.1:c.662-405T>G intron variant NM_001408434.1:c.662-405T>G intron variant NM_001408435.1:c.662-405T>G intron variant NM_001408436.1:c.665-405T>G intron variant NM_001408437.1:c.665-405T>G intron variant NM_001408438.1:c.665-405T>G intron variant NM_001408439.1:c.665-405T>G intron variant NM_001408440.1:c.665-405T>G intron variant NM_001408441.1:c.665-405T>G intron variant NM_001408442.1:c.665-405T>G intron variant NM_001408443.1:c.665-405T>G intron variant NM_001408444.1:c.665-405T>G intron variant NM_001408445.1:c.662-405T>G intron variant NM_001408446.1:c.662-405T>G intron variant NM_001408447.1:c.662-405T>G intron variant NM_001408448.1:c.662-405T>G intron variant NM_001408450.1:c.662-405T>G intron variant NM_001408451.1:c.653-405T>G intron variant NM_001408452.1:c.647-405T>G intron variant NM_001408453.1:c.647-405T>G intron variant NM_001408454.1:c.647-405T>G intron variant NM_001408455.1:c.647-405T>G intron variant NM_001408456.1:c.647-405T>G intron variant NM_001408457.1:c.647-405T>G intron variant NM_001408458.1:c.647-405T>G intron variant NM_001408459.1:c.647-405T>G intron variant NM_001408460.1:c.647-405T>G intron variant NM_001408461.1:c.647-405T>G intron variant NM_001408462.1:c.644-405T>G intron variant NM_001408463.1:c.644-405T>G intron variant NM_001408464.1:c.644-405T>G intron variant NM_001408465.1:c.644-405T>G intron variant NM_001408466.1:c.647-405T>G intron variant NM_001408467.1:c.647-405T>G intron variant NM_001408468.1:c.644-405T>G intron variant NM_001408469.1:c.647-405T>G intron variant NM_001408470.1:c.644-405T>G intron variant NM_001408472.1:c.788-405T>G intron variant NM_001408473.1:c.785-405T>G intron variant NM_001408474.1:c.587-405T>G intron variant NM_001408475.1:c.584-405T>G intron variant NM_001408476.1:c.587-405T>G intron variant NM_001408478.1:c.578-405T>G intron variant NM_001408479.1:c.578-405T>G intron variant NM_001408480.1:c.578-405T>G intron variant NM_001408481.1:c.578-405T>G intron variant NM_001408482.1:c.578-405T>G intron variant NM_001408483.1:c.578-405T>G intron variant NM_001408484.1:c.578-405T>G intron variant NM_001408485.1:c.578-405T>G intron variant NM_001408489.1:c.578-405T>G intron variant NM_001408490.1:c.575-405T>G intron variant NM_001408491.1:c.575-405T>G intron variant NM_001408492.1:c.578-405T>G intron variant NM_001408493.1:c.575-405T>G intron variant NM_001408494.1:c.548-405T>G intron variant NM_001408495.1:c.545-405T>G intron variant NM_001408496.1:c.524-405T>G intron variant NM_001408497.1:c.524-405T>G intron variant NM_001408498.1:c.524-405T>G intron variant NM_001408499.1:c.524-405T>G intron variant NM_001408500.1:c.524-405T>G intron variant NM_001408501.1:c.524-405T>G intron variant NM_001408502.1:c.455-405T>G intron variant NM_001408503.1:c.521-405T>G intron variant NM_001408504.1:c.521-405T>G intron variant NM_001408505.1:c.521-405T>G intron variant NM_001408506.1:c.461-405T>G intron variant NM_001408507.1:c.461-405T>G intron variant NM_001408508.1:c.452-405T>G intron variant NM_001408509.1:c.452-405T>G intron variant NM_001408510.1:c.407-405T>G intron variant NM_001408511.1:c.404-405T>G intron variant NM_001408512.1:c.284-405T>G intron variant NM_001408513.1:c.578-405T>G intron variant NM_001408514.1:c.578-405T>G intron variant NM_007297.4:c.3953T>G NP_009228.2:p.Leu1318Ter nonsense NM_007298.4:c.788-405T>G intron variant NM_007299.4:c.788-405T>G intron variant NM_007300.4:c.4094T>G NP_009231.2:p.Leu1365Ter nonsense NR_027676.1:n.4230T>G NC_000017.11:g.43091437A>C NC_000017.10:g.41243454A>C NG_005905.2:g.126547T>G NG_087068.1:g.419A>C LRG_292:g.126547T>G LRG_292t1:c.4094T>G LRG_292p1:p.Leu1365Ter - Protein change
- L1365*, L1318*, L1197*, L1253*, L1294*, L1295*, L1338*, L1254*, L1277*, L1297*, L1317*, L1237*, L1238*, L1276*, L1298*, L1324*, L1339*, L1364*, L1069*, L1323*, L1362*, L497*
- Other names
- 4213T>G
- Canonical SPDI
- NC_000017.11:43091436:A:C
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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) |
reviewed by expert panel
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Sep 8, 2016 | RCV000077140.14 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 1, 2020 | RCV000585646.10 | |
Pathogenic (1) |
criteria provided, single submitter
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May 30, 2022 | RCV001854355.14 |
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
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Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000300070.2
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
(Jan 01, 2020)
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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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GeneKor MSA
Accession: SCV000693530.2
First in ClinVar: Mar 04, 2018 Last updated: Apr 24, 2020 |
Comment:
This variant is a single amino acid change from Leucine to a termination codon at amino acid residue 1365 of the BRCA1 gene. It is … (more)
This variant is a single amino acid change from Leucine to a termination codon at amino acid residue 1365 of the BRCA1 gene. It is expected to result in a truncated, non-functional protein. The mutation database ClinVar contains entries for this variant (Variation ID: 91623). Truncating variants in the BRCA1 gene are known to be 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: SCV000325844.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(May 30, 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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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV002235735.3
First in ClinVar: Mar 28, 2022 Last updated: Feb 14, 2024 |
Comment:
This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry … (more)
This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 91623). This premature translational stop signal has been observed in individual(s) with clinical features of hereditary breast and ovarian cancer syndrome (PMID: 28724667, 29446198). This sequence change creates a premature translational stop signal (p.Leu1365*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). (less)
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Pathogenic
(May 09, 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: SCV000108937.2
First in ClinVar: Dec 23, 2013 Last updated: Sep 27, 2014 |
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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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Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
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 |
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | Borg A | Human mutation | 2010 | PMID: 20104584 |
Text-mined citations for rs398122681 ...
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.