ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4057_4061del (p.Glu1352_Glu1353insTer)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.4057_4061del (p.Glu1352_Glu1353insTer)
Variation ID: 55091 Accession: VCV000055091.18
- Type and length
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Deletion, 5 bp
- Location
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Cytogenetic: 17q21.31 17: 43091470-43091474 (GRCh38) [ NCBI UCSC ] 17: 41243487-41243491 (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 Oct 22, 2016 May 1, 2024 Oct 18, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.4057_4061del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Glu1352_Glu1353insTer nonsense NM_001407571.1:c.3844_3848del NP_001394500.1:p.Glu1281_Glu1282insTer nonsense NM_001407581.1:c.4057_4061del NP_001394510.1:p.Glu1352_Glu1353insTer nonsense NM_001407582.1:c.4057_4061del NP_001394511.1:p.Glu1352_Glu1353insTer nonsense NM_001407583.1:c.4057_4061del NP_001394512.1:p.Glu1352_Glu1353insTer nonsense NM_001407585.1:c.4057_4061del NP_001394514.1:p.Glu1352_Glu1353insTer nonsense NM_001407587.1:c.4054_4058del NP_001394516.1:p.Glu1351_Glu1352insTer nonsense NM_001407590.1:c.4054_4058del NP_001394519.1:p.Glu1351_Glu1352insTer nonsense NM_001407591.1:c.4054_4058del NP_001394520.1:p.Glu1351_Glu1352insTer nonsense NM_001407593.1:c.4057_4061del NP_001394522.1:p.Glu1352_Glu1353insTer nonsense NM_001407594.1:c.4057_4061del NP_001394523.1:p.Glu1352_Glu1353insTer nonsense NM_001407596.1:c.4057_4061del NP_001394525.1:p.Glu1352_Glu1353insTer nonsense NM_001407597.1:c.4057_4061del NP_001394526.1:p.Glu1352_Glu1353insTer nonsense NM_001407598.1:c.4057_4061del NP_001394527.1:p.Glu1352_Glu1353insTer nonsense NM_001407602.1:c.4057_4061del NP_001394531.1:p.Glu1352_Glu1353insTer nonsense NM_001407603.1:c.4057_4061del NP_001394532.1:p.Glu1352_Glu1353insTer nonsense NM_001407605.1:c.4057_4061del NP_001394534.1:p.Glu1352_Glu1353insTer nonsense NM_001407610.1:c.4054_4058del NP_001394539.1:p.Glu1351_Glu1352insTer nonsense NM_001407611.1:c.4054_4058del NP_001394540.1:p.Glu1351_Glu1352insTer nonsense NM_001407612.1:c.4054_4058del NP_001394541.1:p.Glu1351_Glu1352insTer nonsense NM_001407613.1:c.4054_4058del NP_001394542.1:p.Glu1351_Glu1352insTer nonsense NM_001407614.1:c.4054_4058del NP_001394543.1:p.Glu1351_Glu1352insTer nonsense NM_001407615.1:c.4054_4058del NP_001394544.1:p.Glu1351_Glu1352insTer nonsense NM_001407616.1:c.4057_4061del NP_001394545.1:p.Glu1352_Glu1353insTer nonsense NM_001407617.1:c.4057_4061del NP_001394546.1:p.Glu1352_Glu1353insTer nonsense NM_001407618.1:c.4057_4061del NP_001394547.1:p.Glu1352_Glu1353insTer nonsense NM_001407619.1:c.4057_4061del NP_001394548.1:p.Glu1352_Glu1353insTer nonsense NM_001407620.1:c.4057_4061del NP_001394549.1:p.Glu1352_Glu1353insTer nonsense NM_001407621.1:c.4057_4061del NP_001394550.1:p.Glu1352_Glu1353insTer nonsense NM_001407622.1:c.4057_4061del NP_001394551.1:p.Glu1352_Glu1353insTer nonsense NM_001407623.1:c.4057_4061del NP_001394552.1:p.Glu1352_Glu1353insTer nonsense NM_001407624.1:c.4057_4061del NP_001394553.1:p.Glu1352_Glu1353insTer nonsense NM_001407625.1:c.4057_4061del NP_001394554.1:p.Glu1352_Glu1353insTer nonsense NM_001407626.1:c.4057_4061del NP_001394555.1:p.Glu1352_Glu1353insTer nonsense NM_001407627.1:c.4054_4058del NP_001394556.1:p.Glu1351_Glu1352insTer nonsense NM_001407628.1:c.4054_4058del NP_001394557.1:p.Glu1351_Glu1352insTer nonsense NM_001407629.1:c.4054_4058del NP_001394558.1:p.Glu1351_Glu1352insTer nonsense NM_001407630.1:c.4054_4058del NP_001394559.1:p.Glu1351_Glu1352insTer nonsense NM_001407631.1:c.4054_4058del NP_001394560.1:p.Glu1351_Glu1352insTer nonsense NM_001407632.1:c.4054_4058del NP_001394561.1:p.Glu1351_Glu1352insTer nonsense NM_001407633.1:c.4054_4058del NP_001394562.1:p.Glu1351_Glu1352insTer nonsense NM_001407634.1:c.4054_4058del NP_001394563.1:p.Glu1351_Glu1352insTer nonsense NM_001407635.1:c.4054_4058del NP_001394564.1:p.Glu1351_Glu1352insTer nonsense NM_001407636.1:c.4054_4058del NP_001394565.1:p.Glu1351_Glu1352insTer nonsense NM_001407637.1:c.4054_4058del NP_001394566.1:p.Glu1351_Glu1352insTer nonsense NM_001407638.1:c.4054_4058del NP_001394567.1:p.Glu1351_Glu1352insTer nonsense NM_001407639.1:c.4057_4061del NP_001394568.1:p.Glu1352_Glu1353insTer nonsense NM_001407640.1:c.4057_4061del NP_001394569.1:p.Glu1352_Glu1353insTer nonsense NM_001407641.1:c.4057_4061del NP_001394570.1:p.Glu1352_Glu1353insTer nonsense NM_001407642.1:c.4057_4061del NP_001394571.1:p.Glu1352_Glu1353insTer nonsense NM_001407644.1:c.4054_4058del NP_001394573.1:p.Glu1351_Glu1352insTer nonsense NM_001407645.1:c.4054_4058del NP_001394574.1:p.Glu1351_Glu1352insTer nonsense NM_001407646.1:c.4048_4052del NP_001394575.1:p.Glu1349_Glu1350insTer nonsense NM_001407647.1:c.4048_4052del NP_001394576.1:p.Glu1349_Glu1350insTer nonsense NM_001407648.1:c.3934_3938del NP_001394577.1:p.Glu1311_Glu1312insTer nonsense NM_001407649.1:c.3931_3935del NP_001394578.1:p.Glu1310_Glu1311insTer nonsense NM_001407652.1:c.4057_4061del NP_001394581.1:p.Glu1352_Glu1353insTer nonsense NM_001407653.1:c.3979_3983del NP_001394582.1:p.Glu1326_Glu1327insTer nonsense NM_001407654.1:c.3979_3983del NP_001394583.1:p.Glu1326_Glu1327insTer nonsense NM_001407655.1:c.3979_3983del NP_001394584.1:p.Glu1326_Glu1327insTer nonsense NM_001407656.1:c.3979_3983del NP_001394585.1:p.Glu1326_Glu1327insTer nonsense NM_001407657.1:c.3979_3983del NP_001394586.1:p.Glu1326_Glu1327insTer nonsense NM_001407658.1:c.3979_3983del NP_001394587.1:p.Glu1326_Glu1327insTer nonsense NM_001407659.1:c.3976_3980del NP_001394588.1:p.Glu1325_Glu1326insTer nonsense NM_001407660.1:c.3976_3980del NP_001394589.1:p.Glu1325_Glu1326insTer nonsense NM_001407661.1:c.3976_3980del NP_001394590.1:p.Glu1325_Glu1326insTer nonsense NM_001407662.1:c.3976_3980del NP_001394591.1:p.Glu1325_Glu1326insTer nonsense NM_001407663.1:c.3979_3983del NP_001394592.1:p.Glu1326_Glu1327insTer nonsense NM_001407664.1:c.3934_3938del NP_001394593.1:p.Glu1311_Glu1312insTer nonsense NM_001407665.1:c.3934_3938del NP_001394594.1:p.Glu1311_Glu1312insTer nonsense NM_001407666.1:c.3934_3938del NP_001394595.1:p.Glu1311_Glu1312insTer nonsense NM_001407667.1:c.3934_3938del NP_001394596.1:p.Glu1311_Glu1312insTer nonsense NM_001407668.1:c.3934_3938del NP_001394597.1:p.Glu1311_Glu1312insTer nonsense NM_001407669.1:c.3934_3938del NP_001394598.1:p.Glu1311_Glu1312insTer nonsense NM_001407670.1:c.3931_3935del NP_001394599.1:p.Glu1310_Glu1311insTer nonsense NM_001407671.1:c.3931_3935del NP_001394600.1:p.Glu1310_Glu1311insTer nonsense NM_001407672.1:c.3931_3935del NP_001394601.1:p.Glu1310_Glu1311insTer nonsense NM_001407673.1:c.3931_3935del NP_001394602.1:p.Glu1310_Glu1311insTer nonsense NM_001407674.1:c.3934_3938del NP_001394603.1:p.Glu1311_Glu1312insTer nonsense NM_001407675.1:c.3934_3938del NP_001394604.1:p.Glu1311_Glu1312insTer nonsense NM_001407676.1:c.3934_3938del NP_001394605.1:p.Glu1311_Glu1312insTer nonsense NM_001407677.1:c.3934_3938del NP_001394606.1:p.Glu1311_Glu1312insTer nonsense NM_001407678.1:c.3934_3938del NP_001394607.1:p.Glu1311_Glu1312insTer nonsense NM_001407679.1:c.3934_3938del NP_001394608.1:p.Glu1311_Glu1312insTer nonsense NM_001407680.1:c.3934_3938del NP_001394609.1:p.Glu1311_Glu1312insTer nonsense NM_001407681.1:c.3934_3938del NP_001394610.1:p.Glu1311_Glu1312insTer nonsense NM_001407682.1:c.3934_3938del NP_001394611.1:p.Glu1311_Glu1312insTer nonsense NM_001407683.1:c.3934_3938del NP_001394612.1:p.Glu1311_Glu1312insTer nonsense NM_001407684.1:c.4057_4061del NP_001394613.1:p.Glu1352_Glu1353insTer nonsense NM_001407685.1:c.3931_3935del NP_001394614.1:p.Glu1310_Glu1311insTer nonsense NM_001407686.1:c.3931_3935del NP_001394615.1:p.Glu1310_Glu1311insTer nonsense NM_001407687.1:c.3931_3935del NP_001394616.1:p.Glu1310_Glu1311insTer nonsense NM_001407688.1:c.3931_3935del NP_001394617.1:p.Glu1310_Glu1311insTer nonsense NM_001407689.1:c.3931_3935del NP_001394618.1:p.Glu1310_Glu1311insTer nonsense NM_001407690.1:c.3931_3935del NP_001394619.1:p.Glu1310_Glu1311insTer nonsense NM_001407691.1:c.3931_3935del NP_001394620.1:p.Glu1310_Glu1311insTer nonsense NM_001407692.1:c.3916_3920del NP_001394621.1:p.Glu1305_Glu1306insTer nonsense NM_001407694.1:c.3916_3920del NP_001394623.1:p.Glu1305_Glu1306insTer nonsense NM_001407695.1:c.3916_3920del NP_001394624.1:p.Glu1305_Glu1306insTer nonsense NM_001407696.1:c.3916_3920del NP_001394625.1:p.Glu1305_Glu1306insTer nonsense NM_001407697.1:c.3916_3920del NP_001394626.1:p.Glu1305_Glu1306insTer nonsense NM_001407698.1:c.3916_3920del NP_001394627.1:p.Glu1305_Glu1306insTer nonsense NM_001407724.1:c.3916_3920del NP_001394653.1:p.Glu1305_Glu1306insTer nonsense NM_001407725.1:c.3916_3920del NP_001394654.1:p.Glu1305_Glu1306insTer nonsense NM_001407726.1:c.3916_3920del NP_001394655.1:p.Glu1305_Glu1306insTer nonsense NM_001407727.1:c.3916_3920del NP_001394656.1:p.Glu1305_Glu1306insTer nonsense NM_001407728.1:c.3916_3920del NP_001394657.1:p.Glu1305_Glu1306insTer nonsense NM_001407729.1:c.3916_3920del NP_001394658.1:p.Glu1305_Glu1306insTer nonsense NM_001407730.1:c.3916_3920del NP_001394659.1:p.Glu1305_Glu1306insTer nonsense NM_001407731.1:c.3916_3920del NP_001394660.1:p.Glu1305_Glu1306insTer nonsense NM_001407732.1:c.3916_3920del NP_001394661.1:p.Glu1305_Glu1306insTer nonsense NM_001407733.1:c.3916_3920del NP_001394662.1:p.Glu1305_Glu1306insTer nonsense NM_001407734.1:c.3916_3920del NP_001394663.1:p.Glu1305_Glu1306insTer nonsense NM_001407735.1:c.3916_3920del NP_001394664.1:p.Glu1305_Glu1306insTer nonsense NM_001407736.1:c.3916_3920del NP_001394665.1:p.Glu1305_Glu1306insTer nonsense NM_001407737.1:c.3916_3920del NP_001394666.1:p.Glu1305_Glu1306insTer nonsense NM_001407738.1:c.3916_3920del NP_001394667.1:p.Glu1305_Glu1306insTer nonsense NM_001407739.1:c.3916_3920del NP_001394668.1:p.Glu1305_Glu1306insTer nonsense NM_001407740.1:c.3913_3917del NP_001394669.1:p.Glu1304_Glu1305insTer nonsense NM_001407741.1:c.3913_3917del NP_001394670.1:p.Glu1304_Glu1305insTer nonsense NM_001407742.1:c.3913_3917del NP_001394671.1:p.Glu1304_Glu1305insTer nonsense NM_001407743.1:c.3913_3917del NP_001394672.1:p.Glu1304_Glu1305insTer nonsense NM_001407744.1:c.3913_3917del NP_001394673.1:p.Glu1304_Glu1305insTer nonsense NM_001407745.1:c.3913_3917del NP_001394674.1:p.Glu1304_Glu1305insTer nonsense NM_001407746.1:c.3913_3917del NP_001394675.1:p.Glu1304_Glu1305insTer nonsense NM_001407747.1:c.3913_3917del NP_001394676.1:p.Glu1304_Glu1305insTer nonsense NM_001407748.1:c.3913_3917del NP_001394677.1:p.Glu1304_Glu1305insTer nonsense NM_001407749.1:c.3913_3917del NP_001394678.1:p.Glu1304_Glu1305insTer nonsense NM_001407750.1:c.3916_3920del NP_001394679.1:p.Glu1305_Glu1306insTer nonsense NM_001407751.1:c.3916_3920del NP_001394680.1:p.Glu1305_Glu1306insTer nonsense NM_001407752.1:c.3916_3920del NP_001394681.1:p.Glu1305_Glu1306insTer nonsense NM_001407838.1:c.3913_3917del NP_001394767.1:p.Glu1304_Glu1305insTer nonsense NM_001407839.1:c.3913_3917del NP_001394768.1:p.Glu1304_Glu1305insTer nonsense NM_001407841.1:c.3913_3917del NP_001394770.1:p.Glu1304_Glu1305insTer nonsense NM_001407842.1:c.3913_3917del NP_001394771.1:p.Glu1304_Glu1305insTer nonsense NM_001407843.1:c.3913_3917del NP_001394772.1:p.Glu1304_Glu1305insTer nonsense NM_001407844.1:c.3913_3917del NP_001394773.1:p.Glu1304_Glu1305insTer nonsense NM_001407845.1:c.3913_3917del NP_001394774.1:p.Glu1304_Glu1305insTer nonsense NM_001407846.1:c.3913_3917del NP_001394775.1:p.Glu1304_Glu1305insTer nonsense NM_001407847.1:c.3913_3917del NP_001394776.1:p.Glu1304_Glu1305insTer nonsense NM_001407848.1:c.3913_3917del NP_001394777.1:p.Glu1304_Glu1305insTer nonsense NM_001407849.1:c.3913_3917del NP_001394778.1:p.Glu1304_Glu1305insTer nonsense NM_001407850.1:c.3916_3920del NP_001394779.1:p.Glu1305_Glu1306insTer nonsense NM_001407851.1:c.3916_3920del NP_001394780.1:p.Glu1305_Glu1306insTer nonsense NM_001407852.1:c.3916_3920del NP_001394781.1:p.Glu1305_Glu1306insTer nonsense NM_001407853.1:c.3844_3848del NP_001394782.1:p.Glu1281_Glu1282insTer nonsense NM_001407854.1:c.4057_4061del NP_001394783.1:p.Glu1352_Glu1353insTer nonsense NM_001407858.1:c.4057_4061del NP_001394787.1:p.Glu1352_Glu1353insTer nonsense NM_001407859.1:c.4057_4061del NP_001394788.1:p.Glu1352_Glu1353insTer nonsense NM_001407860.1:c.4054_4058del NP_001394789.1:p.Glu1351_Glu1352insTer nonsense NM_001407861.1:c.4054_4058del NP_001394790.1:p.Glu1351_Glu1352insTer nonsense NM_001407862.1:c.3856_3860del NP_001394791.1:p.Glu1285_Glu1286insTer nonsense NM_001407863.1:c.3934_3938del NP_001394792.1:p.Glu1311_Glu1312insTer nonsense NM_001407874.1:c.3853_3857del NP_001394803.1:p.Glu1284_Glu1285insTer nonsense NM_001407875.1:c.3853_3857del NP_001394804.1:p.Glu1284_Glu1285insTer nonsense NM_001407879.1:c.3847_3851del NP_001394808.1:p.Glu1282_Glu1283insTer nonsense NM_001407881.1:c.3847_3851del NP_001394810.1:p.Glu1282_Glu1283insTer nonsense NM_001407882.1:c.3847_3851del NP_001394811.1:p.Glu1282_Glu1283insTer nonsense NM_001407884.1:c.3847_3851del NP_001394813.1:p.Glu1282_Glu1283insTer nonsense NM_001407885.1:c.3847_3851del NP_001394814.1:p.Glu1282_Glu1283insTer nonsense NM_001407886.1:c.3847_3851del NP_001394815.1:p.Glu1282_Glu1283insTer nonsense NM_001407887.1:c.3847_3851del NP_001394816.1:p.Glu1282_Glu1283insTer nonsense NM_001407889.1:c.3847_3851del NP_001394818.1:p.Glu1282_Glu1283insTer nonsense NM_001407894.1:c.3844_3848del NP_001394823.1:p.Glu1281_Glu1282insTer nonsense NM_001407895.1:c.3844_3848del NP_001394824.1:p.Glu1281_Glu1282insTer nonsense NM_001407896.1:c.3844_3848del NP_001394825.1:p.Glu1281_Glu1282insTer nonsense NM_001407897.1:c.3844_3848del NP_001394826.1:p.Glu1281_Glu1282insTer nonsense NM_001407898.1:c.3844_3848del NP_001394827.1:p.Glu1281_Glu1282insTer nonsense NM_001407899.1:c.3844_3848del NP_001394828.1:p.Glu1281_Glu1282insTer nonsense NM_001407900.1:c.3847_3851del NP_001394829.1:p.Glu1282_Glu1283insTer nonsense NM_001407902.1:c.3847_3851del NP_001394831.1:p.Glu1282_Glu1283insTer nonsense NM_001407904.1:c.3847_3851del NP_001394833.1:p.Glu1282_Glu1283insTer nonsense NM_001407906.1:c.3847_3851del NP_001394835.1:p.Glu1282_Glu1283insTer nonsense NM_001407907.1:c.3847_3851del NP_001394836.1:p.Glu1282_Glu1283insTer nonsense NM_001407908.1:c.3847_3851del NP_001394837.1:p.Glu1282_Glu1283insTer nonsense NM_001407909.1:c.3847_3851del NP_001394838.1:p.Glu1282_Glu1283insTer nonsense NM_001407910.1:c.3847_3851del NP_001394839.1:p.Glu1282_Glu1283insTer nonsense NM_001407915.1:c.3844_3848del NP_001394844.1:p.Glu1281_Glu1282insTer nonsense NM_001407916.1:c.3844_3848del NP_001394845.1:p.Glu1281_Glu1282insTer nonsense NM_001407917.1:c.3844_3848del NP_001394846.1:p.Glu1281_Glu1282insTer nonsense NM_001407918.1:c.3844_3848del NP_001394847.1:p.Glu1281_Glu1282insTer nonsense NM_001407919.1:c.3934_3938del NP_001394848.1:p.Glu1311_Glu1312insTer nonsense NM_001407920.1:c.3793_3797del NP_001394849.1:p.Glu1264_Glu1265insTer nonsense NM_001407921.1:c.3793_3797del NP_001394850.1:p.Glu1264_Glu1265insTer nonsense NM_001407922.1:c.3793_3797del NP_001394851.1:p.Glu1264_Glu1265insTer nonsense NM_001407923.1:c.3793_3797del NP_001394852.1:p.Glu1264_Glu1265insTer nonsense NM_001407924.1:c.3793_3797del NP_001394853.1:p.Glu1264_Glu1265insTer nonsense NM_001407925.1:c.3793_3797del NP_001394854.1:p.Glu1264_Glu1265insTer nonsense NM_001407926.1:c.3793_3797del NP_001394855.1:p.Glu1264_Glu1265insTer nonsense NM_001407927.1:c.3793_3797del NP_001394856.1:p.Glu1264_Glu1265insTer nonsense NM_001407928.1:c.3793_3797del NP_001394857.1:p.Glu1264_Glu1265insTer nonsense NM_001407929.1:c.3793_3797del NP_001394858.1:p.Glu1264_Glu1265insTer nonsense NM_001407930.1:c.3790_3794del NP_001394859.1:p.Glu1263_Glu1264insTer nonsense NM_001407931.1:c.3790_3794del NP_001394860.1:p.Glu1263_Glu1264insTer nonsense NM_001407932.1:c.3790_3794del NP_001394861.1:p.Glu1263_Glu1264insTer nonsense NM_001407933.1:c.3793_3797del NP_001394862.1:p.Glu1264_Glu1265insTer nonsense NM_001407934.1:c.3790_3794del NP_001394863.1:p.Glu1263_Glu1264insTer nonsense NM_001407935.1:c.3793_3797del NP_001394864.1:p.Glu1264_Glu1265insTer nonsense NM_001407936.1:c.3790_3794del NP_001394865.1:p.Glu1263_Glu1264insTer nonsense NM_001407937.1:c.3934_3938del NP_001394866.1:p.Glu1311_Glu1312insTer nonsense NM_001407938.1:c.3934_3938del NP_001394867.1:p.Glu1311_Glu1312insTer nonsense NM_001407939.1:c.3934_3938del NP_001394868.1:p.Glu1311_Glu1312insTer nonsense NM_001407940.1:c.3931_3935del NP_001394869.1:p.Glu1310_Glu1311insTer nonsense NM_001407941.1:c.3931_3935del NP_001394870.1:p.Glu1310_Glu1311insTer nonsense NM_001407942.1:c.3916_3920del NP_001394871.1:p.Glu1305_Glu1306insTer nonsense NM_001407943.1:c.3913_3917del NP_001394872.1:p.Glu1304_Glu1305insTer nonsense NM_001407944.1:c.3916_3920del NP_001394873.1:p.Glu1305_Glu1306insTer nonsense NM_001407945.1:c.3916_3920del NP_001394874.1:p.Glu1305_Glu1306insTer nonsense NM_001407946.1:c.3724_3728del NP_001394875.1:p.Glu1241_Glu1242insTer nonsense NM_001407947.1:c.3724_3728del NP_001394876.1:p.Glu1241_Glu1242insTer nonsense NM_001407948.1:c.3724_3728del NP_001394877.1:p.Glu1241_Glu1242insTer nonsense NM_001407949.1:c.3724_3728del NP_001394878.1:p.Glu1241_Glu1242insTer nonsense NM_001407950.1:c.3724_3728del NP_001394879.1:p.Glu1241_Glu1242insTer nonsense NM_001407951.1:c.3724_3728del NP_001394880.1:p.Glu1241_Glu1242insTer nonsense NM_001407952.1:c.3724_3728del NP_001394881.1:p.Glu1241_Glu1242insTer nonsense NM_001407953.1:c.3724_3728del NP_001394882.1:p.Glu1241_Glu1242insTer nonsense NM_001407954.1:c.3721_3725del NP_001394883.1:p.Glu1240_Glu1241insTer nonsense NM_001407955.1:c.3721_3725del NP_001394884.1:p.Glu1240_Glu1241insTer nonsense NM_001407956.1:c.3721_3725del NP_001394885.1:p.Glu1240_Glu1241insTer nonsense NM_001407957.1:c.3724_3728del NP_001394886.1:p.Glu1241_Glu1242insTer nonsense NM_001407958.1:c.3721_3725del NP_001394887.1:p.Glu1240_Glu1241insTer nonsense NM_001407959.1:c.3676_3680del NP_001394888.1:p.Glu1225_Glu1226insTer nonsense NM_001407960.1:c.3676_3680del NP_001394889.1:p.Glu1225_Glu1226insTer nonsense NM_001407962.1:c.3673_3677del NP_001394891.1:p.Glu1224_Glu1225insTer nonsense NM_001407963.1:c.3676_3680del NP_001394892.1:p.Glu1225_Glu1226insTer nonsense NM_001407964.1:c.3913_3917del NP_001394893.1:p.Glu1304_Glu1305insTer nonsense NM_001407965.1:c.3553_3557del NP_001394894.1:p.Glu1184_Glu1185insTer nonsense NM_001407966.1:c.3169_3173del NP_001394895.1:p.Glu1056_Glu1057insTer nonsense NM_001407967.1:c.3169_3173del NP_001394896.1:p.Glu1056_Glu1057insTer nonsense NM_001407968.1:c.1453_1457del NP_001394897.1:p.Glu484_Glu485insTer nonsense NM_001407969.1:c.1453_1457del NP_001394898.1:p.Glu484_Glu485insTer nonsense NM_001407970.1:c.788-442_788-438del intron variant NM_001407971.1:c.788-442_788-438del intron variant NM_001407972.1:c.785-442_785-438del intron variant NM_001407973.1:c.788-442_788-438del intron variant NM_001407974.1:c.788-442_788-438del intron variant NM_001407975.1:c.788-442_788-438del intron variant NM_001407976.1:c.788-442_788-438del intron variant NM_001407977.1:c.788-442_788-438del intron variant NM_001407978.1:c.788-442_788-438del intron variant NM_001407979.1:c.788-442_788-438del intron variant NM_001407980.1:c.788-442_788-438del intron variant NM_001407981.1:c.788-442_788-438del intron variant NM_001407982.1:c.788-442_788-438del intron variant NM_001407983.1:c.788-442_788-438del intron variant NM_001407984.1:c.785-442_785-438del intron variant NM_001407985.1:c.785-442_785-438del intron variant NM_001407986.1:c.785-442_785-438del intron variant NM_001407990.1:c.788-442_788-438del intron variant NM_001407991.1:c.785-442_785-438del intron variant NM_001407992.1:c.785-442_785-438del intron variant NM_001407993.1:c.788-442_788-438del intron variant NM_001408392.1:c.785-442_785-438del intron variant NM_001408396.1:c.785-442_785-438del intron variant NM_001408397.1:c.785-442_785-438del intron variant NM_001408398.1:c.785-442_785-438del intron variant NM_001408399.1:c.785-442_785-438del intron variant NM_001408400.1:c.785-442_785-438del intron variant NM_001408401.1:c.785-442_785-438del intron variant NM_001408402.1:c.785-442_785-438del intron variant NM_001408403.1:c.788-442_788-438del intron variant NM_001408404.1:c.788-442_788-438del intron variant NM_001408406.1:c.791-451_791-447del intron variant NM_001408407.1:c.785-442_785-438del intron variant NM_001408408.1:c.779-442_779-438del intron variant NM_001408409.1:c.710-442_710-438del intron variant NM_001408410.1:c.647-442_647-438del intron variant NM_001408411.1:c.710-442_710-438del intron variant NM_001408412.1:c.710-442_710-438del intron variant NM_001408413.1:c.707-442_707-438del intron variant NM_001408414.1:c.710-442_710-438del intron variant NM_001408415.1:c.710-442_710-438del intron variant NM_001408416.1:c.707-442_707-438del intron variant NM_001408418.1:c.671-442_671-438del intron variant NM_001408419.1:c.671-442_671-438del intron variant NM_001408420.1:c.671-442_671-438del intron variant NM_001408421.1:c.668-442_668-438del intron variant NM_001408422.1:c.671-442_671-438del intron variant NM_001408423.1:c.671-442_671-438del intron variant NM_001408424.1:c.668-442_668-438del intron variant NM_001408425.1:c.665-442_665-438del intron variant NM_001408426.1:c.665-442_665-438del intron variant NM_001408427.1:c.665-442_665-438del intron variant NM_001408428.1:c.665-442_665-438del intron variant NM_001408429.1:c.665-442_665-438del intron variant NM_001408430.1:c.665-442_665-438del intron variant NM_001408431.1:c.668-442_668-438del intron variant NM_001408432.1:c.662-442_662-438del intron variant NM_001408433.1:c.662-442_662-438del intron variant NM_001408434.1:c.662-442_662-438del intron variant NM_001408435.1:c.662-442_662-438del intron variant NM_001408436.1:c.665-442_665-438del intron variant NM_001408437.1:c.665-442_665-438del intron variant NM_001408438.1:c.665-442_665-438del intron variant NM_001408439.1:c.665-442_665-438del intron variant NM_001408440.1:c.665-442_665-438del intron variant NM_001408441.1:c.665-442_665-438del intron variant NM_001408442.1:c.665-442_665-438del intron variant NM_001408443.1:c.665-442_665-438del intron variant NM_001408444.1:c.665-442_665-438del intron variant NM_001408445.1:c.662-442_662-438del intron variant NM_001408446.1:c.662-442_662-438del intron variant NM_001408447.1:c.662-442_662-438del intron variant NM_001408448.1:c.662-442_662-438del intron variant NM_001408450.1:c.662-442_662-438del intron variant NM_001408451.1:c.653-442_653-438del intron variant NM_001408452.1:c.647-442_647-438del intron variant NM_001408453.1:c.647-442_647-438del intron variant NM_001408454.1:c.647-442_647-438del intron variant NM_001408455.1:c.647-442_647-438del intron variant NM_001408456.1:c.647-442_647-438del intron variant NM_001408457.1:c.647-442_647-438del intron variant NM_001408458.1:c.647-442_647-438del intron variant NM_001408459.1:c.647-442_647-438del intron variant NM_001408460.1:c.647-442_647-438del intron variant NM_001408461.1:c.647-442_647-438del intron variant NM_001408462.1:c.644-442_644-438del intron variant NM_001408463.1:c.644-442_644-438del intron variant NM_001408464.1:c.644-442_644-438del intron variant NM_001408465.1:c.644-442_644-438del intron variant NM_001408466.1:c.647-442_647-438del intron variant NM_001408467.1:c.647-442_647-438del intron variant NM_001408468.1:c.644-442_644-438del intron variant NM_001408469.1:c.647-442_647-438del intron variant NM_001408470.1:c.644-442_644-438del intron variant NM_001408472.1:c.788-442_788-438del intron variant NM_001408473.1:c.785-442_785-438del intron variant NM_001408474.1:c.587-442_587-438del intron variant NM_001408475.1:c.584-442_584-438del intron variant NM_001408476.1:c.587-442_587-438del intron variant NM_001408478.1:c.578-442_578-438del intron variant NM_001408479.1:c.578-442_578-438del intron variant NM_001408480.1:c.578-442_578-438del intron variant NM_001408481.1:c.578-442_578-438del intron variant NM_001408482.1:c.578-442_578-438del intron variant NM_001408483.1:c.578-442_578-438del intron variant NM_001408484.1:c.578-442_578-438del intron variant NM_001408485.1:c.578-442_578-438del intron variant NM_001408489.1:c.578-442_578-438del intron variant NM_001408490.1:c.575-442_575-438del intron variant NM_001408491.1:c.575-442_575-438del intron variant NM_001408492.1:c.578-442_578-438del intron variant NM_001408493.1:c.575-442_575-438del intron variant NM_001408494.1:c.548-442_548-438del intron variant NM_001408495.1:c.545-442_545-438del intron variant NM_001408496.1:c.524-442_524-438del intron variant NM_001408497.1:c.524-442_524-438del intron variant NM_001408498.1:c.524-442_524-438del intron variant NM_001408499.1:c.524-442_524-438del intron variant NM_001408500.1:c.524-442_524-438del intron variant NM_001408501.1:c.524-442_524-438del intron variant NM_001408502.1:c.455-442_455-438del intron variant NM_001408503.1:c.521-442_521-438del intron variant NM_001408504.1:c.521-442_521-438del intron variant NM_001408505.1:c.521-442_521-438del intron variant NM_001408506.1:c.461-442_461-438del intron variant NM_001408507.1:c.461-442_461-438del intron variant NM_001408508.1:c.452-442_452-438del intron variant NM_001408509.1:c.452-442_452-438del intron variant NM_001408510.1:c.407-442_407-438del intron variant NM_001408511.1:c.404-442_404-438del intron variant NM_001408512.1:c.284-442_284-438del intron variant NM_001408513.1:c.578-442_578-438del intron variant NM_001408514.1:c.578-442_578-438del intron variant NM_007294.3:c.4057_4061delGAAAA frameshift nonsense NM_007297.4:c.3916_3920del NP_009228.2:p.Glu1305_Glu1306insTer nonsense NM_007298.4:c.788-442_788-438del intron variant NM_007299.4:c.788-442_788-438del intron variant NM_007300.4:c.4057_4061del NP_009231.2:p.Glu1352_Glu1353insTer nonsense NR_027676.1:n.4191_4195delAAGAA NC_000017.11:g.43091472_43091476del NC_000017.10:g.41243489_41243493del NG_005905.2:g.126510_126514del NG_087068.1:g.454_458del LRG_292:g.126510_126514del LRG_292t1:c.4055_4059del LRG_292p1:p.Glu1353Terfs - Protein change
- Other names
- 4176del5-ter1358
- Canonical SPDI
- NC_000017.11:43091469:TTTTCTT:TT
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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 |
12894 | 14680 | |
LOC126862571 | - | - | - | GRCh38 | - | 1638 |
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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Oct 18, 2016 | RCV000257385.14 | |
Pathogenic (1) |
criteria provided, single submitter
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May 12, 2020 | RCV001383761.14 | |
Pathogenic (1) |
criteria provided, single submitter
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Dec 4, 2019 | RCV001781377.12 | |
Pathogenic (1) |
criteria provided, single submitter
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Nov 20, 2020 | RCV002321548.9 |
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
(Oct 18, 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: SCV000323708.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
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Pathogenic
(Aug 01, 2023)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
unknown
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Unidad Asesoramiento Genetico Oncologico Falp, Instituto Oncologico Fundacion Arturo Lopez Perez
Accession: SCV004024158.1
First in ClinVar: Aug 13, 2023 Last updated: Aug 13, 2023 |
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Pathogenic
(Dec 04, 2019)
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criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Revvity Omics, Revvity
Accession: SCV002024678.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Pathogenic
(May 12, 2020)
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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: SCV001583021.4
First in ClinVar: May 10, 2021 Last updated: Feb 14, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been … (more)
For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been observed in an individual with early onset breast cancer (PMID: 21318380). This variant is also known as 4176del5 in the literature. ClinVar contains an entry for this variant (Variation ID: 55091). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu1353*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. (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: SCV000325826.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(Nov 20, 2020)
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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: SCV002631933.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.4057_4061delGAAAA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of 5 nucleotides at nucleotide positions 4057 to … (more)
The c.4057_4061delGAAAA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of 5 nucleotides at nucleotide positions 4057 to 4061, causing a translational frameshift with a predicted alternate stop codon (p.E1353*). This alteration has been identified in multiple breast and/or ovarian cancer families (Hansen TV et al. Fam Cancer, 2011 Jun;10:207-12; Rebbeck TR et al. Hum Mutat, 2018 05;39:593-620; Ryu JM et al. Breast Cancer Res Treat, 2019 Jan;173:385-395). 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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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Prevalence and oncologic outcomes of BRCA 1/2 mutations in unselected triple-negative breast cancer patients in Korea. | Ryu JM | Breast cancer research and treatment | 2019 | PMID: 30350268 |
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
Screening of 1331 Danish breast and/or ovarian cancer families identified 40 novel BRCA1 and BRCA2 mutations. | Hansen TV | Familial cancer | 2011 | PMID: 21318380 |
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 rs397509133 ...
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.