ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4094del (p.Asn1364_Leu1365insTer)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.4094del (p.Asn1364_Leu1365insTer)
Variation ID: 55102 Accession: VCV000055102.3
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43091437 (GRCh38) [ NCBI UCSC ] 17: 41243454 (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 Jan 25, 2018 Jul 13, 2018 Dec 15, 2017 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.4094del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Asn1364_Leu1365insTer nonsense NM_001407571.1:c.3881del NP_001394500.1:p.Asn1293_Leu1294insTer nonsense NM_001407581.1:c.4094del NP_001394510.1:p.Asn1364_Leu1365insTer nonsense NM_001407582.1:c.4094del NP_001394511.1:p.Asn1364_Leu1365insTer nonsense NM_001407583.1:c.4094del NP_001394512.1:p.Asn1364_Leu1365insTer nonsense NM_001407585.1:c.4094del NP_001394514.1:p.Asn1364_Leu1365insTer nonsense NM_001407587.1:c.4091del NP_001394516.1:p.Asn1363_Leu1364insTer nonsense NM_001407590.1:c.4091del NP_001394519.1:p.Asn1363_Leu1364insTer nonsense NM_001407591.1:c.4091del NP_001394520.1:p.Asn1363_Leu1364insTer nonsense NM_001407593.1:c.4094del NP_001394522.1:p.Asn1364_Leu1365insTer nonsense NM_001407594.1:c.4094del NP_001394523.1:p.Asn1364_Leu1365insTer nonsense NM_001407596.1:c.4094del NP_001394525.1:p.Asn1364_Leu1365insTer nonsense NM_001407597.1:c.4094del NP_001394526.1:p.Asn1364_Leu1365insTer nonsense NM_001407598.1:c.4094del NP_001394527.1:p.Asn1364_Leu1365insTer nonsense NM_001407602.1:c.4094del NP_001394531.1:p.Asn1364_Leu1365insTer nonsense NM_001407603.1:c.4094del NP_001394532.1:p.Asn1364_Leu1365insTer nonsense NM_001407605.1:c.4094del NP_001394534.1:p.Asn1364_Leu1365insTer nonsense NM_001407610.1:c.4091del NP_001394539.1:p.Asn1363_Leu1364insTer nonsense NM_001407611.1:c.4091del NP_001394540.1:p.Asn1363_Leu1364insTer nonsense NM_001407612.1:c.4091del NP_001394541.1:p.Asn1363_Leu1364insTer nonsense NM_001407613.1:c.4091del NP_001394542.1:p.Asn1363_Leu1364insTer nonsense NM_001407614.1:c.4091del NP_001394543.1:p.Asn1363_Leu1364insTer nonsense NM_001407615.1:c.4091del NP_001394544.1:p.Asn1363_Leu1364insTer nonsense NM_001407616.1:c.4094del NP_001394545.1:p.Asn1364_Leu1365insTer nonsense NM_001407617.1:c.4094del NP_001394546.1:p.Asn1364_Leu1365insTer nonsense NM_001407618.1:c.4094del NP_001394547.1:p.Asn1364_Leu1365insTer nonsense NM_001407619.1:c.4094del NP_001394548.1:p.Asn1364_Leu1365insTer nonsense NM_001407620.1:c.4094del NP_001394549.1:p.Asn1364_Leu1365insTer nonsense NM_001407621.1:c.4094del NP_001394550.1:p.Asn1364_Leu1365insTer nonsense NM_001407622.1:c.4094del NP_001394551.1:p.Asn1364_Leu1365insTer nonsense NM_001407623.1:c.4094del NP_001394552.1:p.Asn1364_Leu1365insTer nonsense NM_001407624.1:c.4094del NP_001394553.1:p.Asn1364_Leu1365insTer nonsense NM_001407625.1:c.4094del NP_001394554.1:p.Asn1364_Leu1365insTer nonsense NM_001407626.1:c.4094del NP_001394555.1:p.Asn1364_Leu1365insTer nonsense NM_001407627.1:c.4091del NP_001394556.1:p.Asn1363_Leu1364insTer nonsense NM_001407628.1:c.4091del NP_001394557.1:p.Asn1363_Leu1364insTer nonsense NM_001407629.1:c.4091del NP_001394558.1:p.Asn1363_Leu1364insTer nonsense NM_001407630.1:c.4091del NP_001394559.1:p.Asn1363_Leu1364insTer nonsense NM_001407631.1:c.4091del NP_001394560.1:p.Asn1363_Leu1364insTer nonsense NM_001407632.1:c.4091del NP_001394561.1:p.Asn1363_Leu1364insTer nonsense NM_001407633.1:c.4091del NP_001394562.1:p.Asn1363_Leu1364insTer nonsense NM_001407634.1:c.4091del NP_001394563.1:p.Asn1363_Leu1364insTer nonsense NM_001407635.1:c.4091del NP_001394564.1:p.Asn1363_Leu1364insTer nonsense NM_001407636.1:c.4091del NP_001394565.1:p.Asn1363_Leu1364insTer nonsense NM_001407637.1:c.4091del NP_001394566.1:p.Asn1363_Leu1364insTer nonsense NM_001407638.1:c.4091del NP_001394567.1:p.Asn1363_Leu1364insTer nonsense NM_001407639.1:c.4094del NP_001394568.1:p.Asn1364_Leu1365insTer nonsense NM_001407640.1:c.4094del NP_001394569.1:p.Asn1364_Leu1365insTer nonsense NM_001407641.1:c.4094del NP_001394570.1:p.Asn1364_Leu1365insTer nonsense NM_001407642.1:c.4094del NP_001394571.1:p.Asn1364_Leu1365insTer nonsense NM_001407644.1:c.4091del NP_001394573.1:p.Asn1363_Leu1364insTer nonsense NM_001407645.1:c.4091del NP_001394574.1:p.Asn1363_Leu1364insTer nonsense NM_001407646.1:c.4085del NP_001394575.1:p.Asn1361_Leu1362insTer nonsense NM_001407647.1:c.4085del NP_001394576.1:p.Asn1361_Leu1362insTer nonsense NM_001407648.1:c.3971del NP_001394577.1:p.Asn1323_Leu1324insTer nonsense NM_001407649.1:c.3968del NP_001394578.1:p.Asn1322_Leu1323insTer nonsense NM_001407652.1:c.4094del NP_001394581.1:p.Asn1364_Leu1365insTer nonsense NM_001407653.1:c.4016del NP_001394582.1:p.Asn1338_Leu1339insTer nonsense NM_001407654.1:c.4016del NP_001394583.1:p.Asn1338_Leu1339insTer nonsense NM_001407655.1:c.4016del NP_001394584.1:p.Asn1338_Leu1339insTer nonsense NM_001407656.1:c.4016del NP_001394585.1:p.Asn1338_Leu1339insTer nonsense NM_001407657.1:c.4016del NP_001394586.1:p.Asn1338_Leu1339insTer nonsense NM_001407658.1:c.4016del NP_001394587.1:p.Asn1338_Leu1339insTer nonsense NM_001407659.1:c.4013del NP_001394588.1:p.Asn1337_Leu1338insTer nonsense NM_001407660.1:c.4013del NP_001394589.1:p.Asn1337_Leu1338insTer nonsense NM_001407661.1:c.4013del NP_001394590.1:p.Asn1337_Leu1338insTer nonsense NM_001407662.1:c.4013del NP_001394591.1:p.Asn1337_Leu1338insTer nonsense NM_001407663.1:c.4016del NP_001394592.1:p.Asn1338_Leu1339insTer nonsense NM_001407664.1:c.3971del NP_001394593.1:p.Asn1323_Leu1324insTer nonsense NM_001407665.1:c.3971del NP_001394594.1:p.Asn1323_Leu1324insTer nonsense NM_001407666.1:c.3971del NP_001394595.1:p.Asn1323_Leu1324insTer nonsense NM_001407667.1:c.3971del NP_001394596.1:p.Asn1323_Leu1324insTer nonsense NM_001407668.1:c.3971del NP_001394597.1:p.Asn1323_Leu1324insTer nonsense NM_001407669.1:c.3971del NP_001394598.1:p.Asn1323_Leu1324insTer nonsense NM_001407670.1:c.3968del NP_001394599.1:p.Asn1322_Leu1323insTer nonsense NM_001407671.1:c.3968del NP_001394600.1:p.Asn1322_Leu1323insTer nonsense NM_001407672.1:c.3968del NP_001394601.1:p.Asn1322_Leu1323insTer nonsense NM_001407673.1:c.3968del NP_001394602.1:p.Asn1322_Leu1323insTer nonsense NM_001407674.1:c.3971del NP_001394603.1:p.Asn1323_Leu1324insTer nonsense NM_001407675.1:c.3971del NP_001394604.1:p.Asn1323_Leu1324insTer nonsense NM_001407676.1:c.3971del NP_001394605.1:p.Asn1323_Leu1324insTer nonsense NM_001407677.1:c.3971del NP_001394606.1:p.Asn1323_Leu1324insTer nonsense NM_001407678.1:c.3971del NP_001394607.1:p.Asn1323_Leu1324insTer nonsense NM_001407679.1:c.3971del NP_001394608.1:p.Asn1323_Leu1324insTer nonsense NM_001407680.1:c.3971del NP_001394609.1:p.Asn1323_Leu1324insTer nonsense NM_001407681.1:c.3971del NP_001394610.1:p.Asn1323_Leu1324insTer nonsense NM_001407682.1:c.3971del NP_001394611.1:p.Asn1323_Leu1324insTer nonsense NM_001407683.1:c.3971del NP_001394612.1:p.Asn1323_Leu1324insTer nonsense NM_001407684.1:c.4094del NP_001394613.1:p.Asn1364_Leu1365insTer nonsense NM_001407685.1:c.3968del NP_001394614.1:p.Asn1322_Leu1323insTer nonsense NM_001407686.1:c.3968del NP_001394615.1:p.Asn1322_Leu1323insTer nonsense NM_001407687.1:c.3968del NP_001394616.1:p.Asn1322_Leu1323insTer nonsense NM_001407688.1:c.3968del NP_001394617.1:p.Asn1322_Leu1323insTer nonsense NM_001407689.1:c.3968del NP_001394618.1:p.Asn1322_Leu1323insTer nonsense NM_001407690.1:c.3968del NP_001394619.1:p.Asn1322_Leu1323insTer nonsense NM_001407691.1:c.3968del NP_001394620.1:p.Asn1322_Leu1323insTer nonsense NM_001407692.1:c.3953del NP_001394621.1:p.Asn1317_Leu1318insTer nonsense NM_001407694.1:c.3953del NP_001394623.1:p.Asn1317_Leu1318insTer nonsense NM_001407695.1:c.3953del NP_001394624.1:p.Asn1317_Leu1318insTer nonsense NM_001407696.1:c.3953del NP_001394625.1:p.Asn1317_Leu1318insTer nonsense NM_001407697.1:c.3953del NP_001394626.1:p.Asn1317_Leu1318insTer nonsense NM_001407698.1:c.3953del NP_001394627.1:p.Asn1317_Leu1318insTer nonsense NM_001407724.1:c.3953del NP_001394653.1:p.Asn1317_Leu1318insTer nonsense NM_001407725.1:c.3953del NP_001394654.1:p.Asn1317_Leu1318insTer nonsense NM_001407726.1:c.3953del NP_001394655.1:p.Asn1317_Leu1318insTer nonsense NM_001407727.1:c.3953del NP_001394656.1:p.Asn1317_Leu1318insTer nonsense NM_001407728.1:c.3953del NP_001394657.1:p.Asn1317_Leu1318insTer nonsense NM_001407729.1:c.3953del NP_001394658.1:p.Asn1317_Leu1318insTer nonsense NM_001407730.1:c.3953del NP_001394659.1:p.Asn1317_Leu1318insTer nonsense NM_001407731.1:c.3953del NP_001394660.1:p.Asn1317_Leu1318insTer nonsense NM_001407732.1:c.3953del NP_001394661.1:p.Asn1317_Leu1318insTer nonsense NM_001407733.1:c.3953del NP_001394662.1:p.Asn1317_Leu1318insTer nonsense NM_001407734.1:c.3953del NP_001394663.1:p.Asn1317_Leu1318insTer nonsense NM_001407735.1:c.3953del NP_001394664.1:p.Asn1317_Leu1318insTer nonsense NM_001407736.1:c.3953del NP_001394665.1:p.Asn1317_Leu1318insTer nonsense NM_001407737.1:c.3953del NP_001394666.1:p.Asn1317_Leu1318insTer nonsense NM_001407738.1:c.3953del NP_001394667.1:p.Asn1317_Leu1318insTer nonsense NM_001407739.1:c.3953del NP_001394668.1:p.Asn1317_Leu1318insTer nonsense NM_001407740.1:c.3950del NP_001394669.1:p.Asn1316_Leu1317insTer nonsense NM_001407741.1:c.3950del NP_001394670.1:p.Asn1316_Leu1317insTer nonsense NM_001407742.1:c.3950del NP_001394671.1:p.Asn1316_Leu1317insTer nonsense NM_001407743.1:c.3950del NP_001394672.1:p.Asn1316_Leu1317insTer nonsense NM_001407744.1:c.3950del NP_001394673.1:p.Asn1316_Leu1317insTer nonsense NM_001407745.1:c.3950del NP_001394674.1:p.Asn1316_Leu1317insTer nonsense NM_001407746.1:c.3950del NP_001394675.1:p.Asn1316_Leu1317insTer nonsense NM_001407747.1:c.3950del NP_001394676.1:p.Asn1316_Leu1317insTer nonsense NM_001407748.1:c.3950del NP_001394677.1:p.Asn1316_Leu1317insTer nonsense NM_001407749.1:c.3950del NP_001394678.1:p.Asn1316_Leu1317insTer nonsense NM_001407750.1:c.3953del NP_001394679.1:p.Asn1317_Leu1318insTer nonsense NM_001407751.1:c.3953del NP_001394680.1:p.Asn1317_Leu1318insTer nonsense NM_001407752.1:c.3953del NP_001394681.1:p.Asn1317_Leu1318insTer nonsense NM_001407838.1:c.3950del NP_001394767.1:p.Asn1316_Leu1317insTer nonsense NM_001407839.1:c.3950del NP_001394768.1:p.Asn1316_Leu1317insTer nonsense NM_001407841.1:c.3950del NP_001394770.1:p.Asn1316_Leu1317insTer nonsense NM_001407842.1:c.3950del NP_001394771.1:p.Asn1316_Leu1317insTer nonsense NM_001407843.1:c.3950del NP_001394772.1:p.Asn1316_Leu1317insTer nonsense NM_001407844.1:c.3950del NP_001394773.1:p.Asn1316_Leu1317insTer nonsense NM_001407845.1:c.3950del NP_001394774.1:p.Asn1316_Leu1317insTer nonsense NM_001407846.1:c.3950del NP_001394775.1:p.Asn1316_Leu1317insTer nonsense NM_001407847.1:c.3950del NP_001394776.1:p.Asn1316_Leu1317insTer nonsense NM_001407848.1:c.3950del NP_001394777.1:p.Asn1316_Leu1317insTer nonsense NM_001407849.1:c.3950del NP_001394778.1:p.Asn1316_Leu1317insTer nonsense NM_001407850.1:c.3953del NP_001394779.1:p.Asn1317_Leu1318insTer nonsense NM_001407851.1:c.3953del NP_001394780.1:p.Asn1317_Leu1318insTer nonsense NM_001407852.1:c.3953del NP_001394781.1:p.Asn1317_Leu1318insTer nonsense NM_001407853.1:c.3881del NP_001394782.1:p.Asn1293_Leu1294insTer nonsense NM_001407854.1:c.4094del NP_001394783.1:p.Asn1364_Leu1365insTer nonsense NM_001407858.1:c.4094del NP_001394787.1:p.Asn1364_Leu1365insTer nonsense NM_001407859.1:c.4094del NP_001394788.1:p.Asn1364_Leu1365insTer nonsense NM_001407860.1:c.4091del NP_001394789.1:p.Asn1363_Leu1364insTer nonsense NM_001407861.1:c.4091del NP_001394790.1:p.Asn1363_Leu1364insTer nonsense NM_001407862.1:c.3893del NP_001394791.1:p.Asn1297_Leu1298insTer nonsense NM_001407863.1:c.3971del NP_001394792.1:p.Asn1323_Leu1324insTer nonsense NM_001407874.1:c.3890del NP_001394803.1:p.Asn1296_Leu1297insTer nonsense NM_001407875.1:c.3890del NP_001394804.1:p.Asn1296_Leu1297insTer nonsense NM_001407879.1:c.3884del NP_001394808.1:p.Asn1294_Leu1295insTer nonsense NM_001407881.1:c.3884del NP_001394810.1:p.Asn1294_Leu1295insTer nonsense NM_001407882.1:c.3884del NP_001394811.1:p.Asn1294_Leu1295insTer nonsense NM_001407884.1:c.3884del NP_001394813.1:p.Asn1294_Leu1295insTer nonsense NM_001407885.1:c.3884del NP_001394814.1:p.Asn1294_Leu1295insTer nonsense NM_001407886.1:c.3884del NP_001394815.1:p.Asn1294_Leu1295insTer nonsense NM_001407887.1:c.3884del NP_001394816.1:p.Asn1294_Leu1295insTer nonsense NM_001407889.1:c.3884del NP_001394818.1:p.Asn1294_Leu1295insTer nonsense NM_001407894.1:c.3881del NP_001394823.1:p.Asn1293_Leu1294insTer nonsense NM_001407895.1:c.3881del NP_001394824.1:p.Asn1293_Leu1294insTer nonsense NM_001407896.1:c.3881del NP_001394825.1:p.Asn1293_Leu1294insTer nonsense NM_001407897.1:c.3881del NP_001394826.1:p.Asn1293_Leu1294insTer nonsense NM_001407898.1:c.3881del NP_001394827.1:p.Asn1293_Leu1294insTer nonsense NM_001407899.1:c.3881del NP_001394828.1:p.Asn1293_Leu1294insTer nonsense NM_001407900.1:c.3884del NP_001394829.1:p.Asn1294_Leu1295insTer nonsense NM_001407902.1:c.3884del NP_001394831.1:p.Asn1294_Leu1295insTer nonsense NM_001407904.1:c.3884del NP_001394833.1:p.Asn1294_Leu1295insTer nonsense NM_001407906.1:c.3884del NP_001394835.1:p.Asn1294_Leu1295insTer nonsense NM_001407907.1:c.3884del NP_001394836.1:p.Asn1294_Leu1295insTer nonsense NM_001407908.1:c.3884del NP_001394837.1:p.Asn1294_Leu1295insTer nonsense NM_001407909.1:c.3884del NP_001394838.1:p.Asn1294_Leu1295insTer nonsense NM_001407910.1:c.3884del NP_001394839.1:p.Asn1294_Leu1295insTer nonsense NM_001407915.1:c.3881del NP_001394844.1:p.Asn1293_Leu1294insTer nonsense NM_001407916.1:c.3881del NP_001394845.1:p.Asn1293_Leu1294insTer nonsense NM_001407917.1:c.3881del NP_001394846.1:p.Asn1293_Leu1294insTer nonsense NM_001407918.1:c.3881del NP_001394847.1:p.Asn1293_Leu1294insTer nonsense NM_001407919.1:c.3971del NP_001394848.1:p.Asn1323_Leu1324insTer nonsense NM_001407920.1:c.3830del NP_001394849.1:p.Asn1276_Leu1277insTer nonsense NM_001407921.1:c.3830del NP_001394850.1:p.Asn1276_Leu1277insTer nonsense NM_001407922.1:c.3830del NP_001394851.1:p.Asn1276_Leu1277insTer nonsense NM_001407923.1:c.3830del NP_001394852.1:p.Asn1276_Leu1277insTer nonsense NM_001407924.1:c.3830del NP_001394853.1:p.Asn1276_Leu1277insTer nonsense NM_001407925.1:c.3830del NP_001394854.1:p.Asn1276_Leu1277insTer nonsense NM_001407926.1:c.3830del NP_001394855.1:p.Asn1276_Leu1277insTer nonsense NM_001407927.1:c.3830del NP_001394856.1:p.Asn1276_Leu1277insTer nonsense NM_001407928.1:c.3830del NP_001394857.1:p.Asn1276_Leu1277insTer nonsense NM_001407929.1:c.3830del NP_001394858.1:p.Asn1276_Leu1277insTer nonsense NM_001407930.1:c.3827del NP_001394859.1:p.Asn1275_Leu1276insTer nonsense NM_001407931.1:c.3827del NP_001394860.1:p.Asn1275_Leu1276insTer nonsense NM_001407932.1:c.3827del NP_001394861.1:p.Asn1275_Leu1276insTer nonsense NM_001407933.1:c.3830del NP_001394862.1:p.Asn1276_Leu1277insTer nonsense NM_001407934.1:c.3827del NP_001394863.1:p.Asn1275_Leu1276insTer nonsense NM_001407935.1:c.3830del NP_001394864.1:p.Asn1276_Leu1277insTer nonsense NM_001407936.1:c.3827del NP_001394865.1:p.Asn1275_Leu1276insTer nonsense NM_001407937.1:c.3971del NP_001394866.1:p.Asn1323_Leu1324insTer nonsense NM_001407938.1:c.3971del NP_001394867.1:p.Asn1323_Leu1324insTer nonsense NM_001407939.1:c.3971del NP_001394868.1:p.Asn1323_Leu1324insTer nonsense NM_001407940.1:c.3968del NP_001394869.1:p.Asn1322_Leu1323insTer nonsense NM_001407941.1:c.3968del NP_001394870.1:p.Asn1322_Leu1323insTer nonsense NM_001407942.1:c.3953del NP_001394871.1:p.Asn1317_Leu1318insTer nonsense NM_001407943.1:c.3950del NP_001394872.1:p.Asn1316_Leu1317insTer nonsense NM_001407944.1:c.3953del NP_001394873.1:p.Asn1317_Leu1318insTer nonsense NM_001407945.1:c.3953del NP_001394874.1:p.Asn1317_Leu1318insTer nonsense NM_001407946.1:c.3761del NP_001394875.1:p.Asn1253_Leu1254insTer nonsense NM_001407947.1:c.3761del NP_001394876.1:p.Asn1253_Leu1254insTer nonsense NM_001407948.1:c.3761del NP_001394877.1:p.Asn1253_Leu1254insTer nonsense NM_001407949.1:c.3761del NP_001394878.1:p.Asn1253_Leu1254insTer nonsense NM_001407950.1:c.3761del NP_001394879.1:p.Asn1253_Leu1254insTer nonsense NM_001407951.1:c.3761del NP_001394880.1:p.Asn1253_Leu1254insTer nonsense NM_001407952.1:c.3761del NP_001394881.1:p.Asn1253_Leu1254insTer nonsense NM_001407953.1:c.3761del NP_001394882.1:p.Asn1253_Leu1254insTer nonsense NM_001407954.1:c.3758del NP_001394883.1:p.Asn1252_Leu1253insTer nonsense NM_001407955.1:c.3758del NP_001394884.1:p.Asn1252_Leu1253insTer nonsense NM_001407956.1:c.3758del NP_001394885.1:p.Asn1252_Leu1253insTer nonsense NM_001407957.1:c.3761del NP_001394886.1:p.Asn1253_Leu1254insTer nonsense NM_001407958.1:c.3758del NP_001394887.1:p.Asn1252_Leu1253insTer nonsense NM_001407959.1:c.3713del NP_001394888.1:p.Asn1237_Leu1238insTer nonsense NM_001407960.1:c.3713del NP_001394889.1:p.Asn1237_Leu1238insTer nonsense NM_001407962.1:c.3710del NP_001394891.1:p.Asn1236_Leu1237insTer nonsense NM_001407963.1:c.3713del NP_001394892.1:p.Asn1237_Leu1238insTer nonsense NM_001407964.1:c.3950del NP_001394893.1:p.Asn1316_Leu1317insTer nonsense NM_001407965.1:c.3590del NP_001394894.1:p.Asn1196_Leu1197insTer nonsense NM_001407966.1:c.3206del NP_001394895.1:p.Asn1068_Leu1069insTer nonsense NM_001407967.1:c.3206del NP_001394896.1:p.Asn1068_Leu1069insTer nonsense NM_001407968.1:c.1490del NP_001394897.1:p.Asn496_Leu497insTer nonsense NM_001407969.1:c.1490del NP_001394898.1:p.Asn496_Leu497insTer nonsense NM_001407970.1:c.788-405del intron variant NM_001407971.1:c.788-405del intron variant NM_001407972.1:c.785-405del intron variant NM_001407973.1:c.788-405del intron variant NM_001407974.1:c.788-405del intron variant NM_001407975.1:c.788-405del intron variant NM_001407976.1:c.788-405del intron variant NM_001407977.1:c.788-405del intron variant NM_001407978.1:c.788-405del intron variant NM_001407979.1:c.788-405del intron variant NM_001407980.1:c.788-405del intron variant NM_001407981.1:c.788-405del intron variant NM_001407982.1:c.788-405del intron variant NM_001407983.1:c.788-405del intron variant NM_001407984.1:c.785-405del intron variant NM_001407985.1:c.785-405del intron variant NM_001407986.1:c.785-405del intron variant NM_001407990.1:c.788-405del intron variant NM_001407991.1:c.785-405del intron variant NM_001407992.1:c.785-405del intron variant NM_001407993.1:c.788-405del intron variant NM_001408392.1:c.785-405del intron variant NM_001408396.1:c.785-405del intron variant NM_001408397.1:c.785-405del intron variant NM_001408398.1:c.785-405del intron variant NM_001408399.1:c.785-405del intron variant NM_001408400.1:c.785-405del intron variant NM_001408401.1:c.785-405del intron variant NM_001408402.1:c.785-405del intron variant NM_001408403.1:c.788-405del intron variant NM_001408404.1:c.788-405del intron variant NM_001408406.1:c.791-414del intron variant NM_001408407.1:c.785-405del intron variant NM_001408408.1:c.779-405del intron variant NM_001408409.1:c.710-405del intron variant NM_001408410.1:c.647-405del intron variant NM_001408411.1:c.710-405del intron variant NM_001408412.1:c.710-405del intron variant NM_001408413.1:c.707-405del intron variant NM_001408414.1:c.710-405del intron variant NM_001408415.1:c.710-405del intron variant NM_001408416.1:c.707-405del intron variant NM_001408418.1:c.671-405del intron variant NM_001408419.1:c.671-405del intron variant NM_001408420.1:c.671-405del intron variant NM_001408421.1:c.668-405del intron variant NM_001408422.1:c.671-405del intron variant NM_001408423.1:c.671-405del intron variant NM_001408424.1:c.668-405del intron variant NM_001408425.1:c.665-405del intron variant NM_001408426.1:c.665-405del intron variant NM_001408427.1:c.665-405del intron variant NM_001408428.1:c.665-405del intron variant NM_001408429.1:c.665-405del intron variant NM_001408430.1:c.665-405del intron variant NM_001408431.1:c.668-405del intron variant NM_001408432.1:c.662-405del intron variant NM_001408433.1:c.662-405del intron variant NM_001408434.1:c.662-405del intron variant NM_001408435.1:c.662-405del intron variant NM_001408436.1:c.665-405del intron variant NM_001408437.1:c.665-405del intron variant NM_001408438.1:c.665-405del intron variant NM_001408439.1:c.665-405del intron variant NM_001408440.1:c.665-405del intron variant NM_001408441.1:c.665-405del intron variant NM_001408442.1:c.665-405del intron variant NM_001408443.1:c.665-405del intron variant NM_001408444.1:c.665-405del intron variant NM_001408445.1:c.662-405del intron variant NM_001408446.1:c.662-405del intron variant NM_001408447.1:c.662-405del intron variant NM_001408448.1:c.662-405del intron variant NM_001408450.1:c.662-405del intron variant NM_001408451.1:c.653-405del intron variant NM_001408452.1:c.647-405del intron variant NM_001408453.1:c.647-405del intron variant NM_001408454.1:c.647-405del intron variant NM_001408455.1:c.647-405del intron variant NM_001408456.1:c.647-405del intron variant NM_001408457.1:c.647-405del intron variant NM_001408458.1:c.647-405del intron variant NM_001408459.1:c.647-405del intron variant NM_001408460.1:c.647-405del intron variant NM_001408461.1:c.647-405del intron variant NM_001408462.1:c.644-405del intron variant NM_001408463.1:c.644-405del intron variant NM_001408464.1:c.644-405del intron variant NM_001408465.1:c.644-405del intron variant NM_001408466.1:c.647-405del intron variant NM_001408467.1:c.647-405del intron variant NM_001408468.1:c.644-405del intron variant NM_001408469.1:c.647-405del intron variant NM_001408470.1:c.644-405del intron variant NM_001408472.1:c.788-405del intron variant NM_001408473.1:c.785-405del intron variant NM_001408474.1:c.587-405del intron variant NM_001408475.1:c.584-405del intron variant NM_001408476.1:c.587-405del intron variant NM_001408478.1:c.578-405del intron variant NM_001408479.1:c.578-405del intron variant NM_001408480.1:c.578-405del intron variant NM_001408481.1:c.578-405del intron variant NM_001408482.1:c.578-405del intron variant NM_001408483.1:c.578-405del intron variant NM_001408484.1:c.578-405del intron variant NM_001408485.1:c.578-405del intron variant NM_001408489.1:c.578-405del intron variant NM_001408490.1:c.575-405del intron variant NM_001408491.1:c.575-405del intron variant NM_001408492.1:c.578-405del intron variant NM_001408493.1:c.575-405del intron variant NM_001408494.1:c.548-405del intron variant NM_001408495.1:c.545-405del intron variant NM_001408496.1:c.524-405del intron variant NM_001408497.1:c.524-405del intron variant NM_001408498.1:c.524-405del intron variant NM_001408499.1:c.524-405del intron variant NM_001408500.1:c.524-405del intron variant NM_001408501.1:c.524-405del intron variant NM_001408502.1:c.455-405del intron variant NM_001408503.1:c.521-405del intron variant NM_001408504.1:c.521-405del intron variant NM_001408505.1:c.521-405del intron variant NM_001408506.1:c.461-405del intron variant NM_001408507.1:c.461-405del intron variant NM_001408508.1:c.452-405del intron variant NM_001408509.1:c.452-405del intron variant NM_001408510.1:c.407-405del intron variant NM_001408511.1:c.404-405del intron variant NM_001408512.1:c.284-405del intron variant NM_001408513.1:c.578-405del intron variant NM_001408514.1:c.578-405del intron variant NM_007294.3:c.4094delT frameshift nonsense NM_007297.4:c.3953del NP_009228.2:p.Asn1317_Leu1318insTer nonsense NM_007298.4:c.788-405del intron variant NM_007299.4:c.788-405del intron variant NM_007300.4:c.4094del NP_009231.2:p.Asn1364_Leu1365insTer nonsense NR_027676.1:n.4229delT NC_000017.11:g.43091438del NC_000017.10:g.41243455del NG_005905.2:g.126547del NG_087068.1:g.420del LRG_292:g.126547del LRG_292t1:c.4093del LRG_292p1:p.Leu1365Terfs - Protein change
- Other names
- -
- Canonical SPDI
- NC_000017.11:43091436:AA: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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not provided (1) |
no classification provided
|
- | RCV000577244.9 | |
Pathogenic (1) |
reviewed by expert panel
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Dec 15, 2017 | RCV000661031.9 |
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
(Dec 15, 2017)
|
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)
Study: ENIGMA
Accession: SCV000783276.1 First in ClinVar: Jul 13, 2018 Last updated: Jul 13, 2018 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
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not provided
(-)
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no classification provided
Method: literature only
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Familial cancer of breast
Affected status: yes
Allele origin:
germline
|
ClinVar Staff, National Center for Biotechnology Information (NCBI)
Accession: SCV000679555.1
First in ClinVar: Jan 25, 2018 Last updated: Jan 25, 2018 |
|
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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BRCA1 and BRCA2 germline mutation analysis among Indian women from south India: identification of four novel mutations and high-frequency occurrence of 185delAG mutation. | Vaidyanathan K | Journal of biosciences | 2009 | PMID: 19805903 |
Text-mined citations for rs397509138 ...
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.