ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4282_4283del (p.Ser1428fs)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.4282_4283del (p.Ser1428fs)
Variation ID: 55160 Accession: VCV000055160.2
- Type and length
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Deletion, 2 bp
- Location
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Cytogenetic: 17q21.31 17: 43082478-43082479 (GRCh38) [ NCBI UCSC ] 17: 41234495-41234496 (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.4282_4283del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ser1428fs frameshift NM_001407571.1:c.4069_4070delAG NP_001394500.1:p.Ser1357Leufs frameshift NM_001407581.1:c.4282_4283delAG NP_001394510.1:p.Ser1428Leufs frameshift NM_001407582.1:c.4282_4283delAG NP_001394511.1:p.Ser1428Leufs frameshift NM_001407583.1:c.4282_4283delAG NP_001394512.1:p.Ser1428Leufs frameshift NM_001407585.1:c.4282_4283delAG NP_001394514.1:p.Ser1428Leufs frameshift NM_001407587.1:c.4279_4280delAG NP_001394516.1:p.Ser1427Leufs frameshift NM_001407590.1:c.4279_4280delAG NP_001394519.1:p.Ser1427Leufs frameshift NM_001407591.1:c.4279_4280delAG NP_001394520.1:p.Ser1427Leufs frameshift NM_001407593.1:c.4282_4283delAG NP_001394522.1:p.Ser1428Leufs frameshift NM_001407594.1:c.4282_4283delAG NP_001394523.1:p.Ser1428Leufs frameshift NM_001407596.1:c.4282_4283delAG NP_001394525.1:p.Ser1428Leufs frameshift NM_001407597.1:c.4282_4283delAG NP_001394526.1:p.Ser1428Leufs frameshift NM_001407598.1:c.4282_4283delAG NP_001394527.1:p.Ser1428Leufs frameshift NM_001407602.1:c.4282_4283delAG NP_001394531.1:p.Ser1428Leufs frameshift NM_001407603.1:c.4282_4283delAG NP_001394532.1:p.Ser1428Leufs frameshift NM_001407605.1:c.4282_4283delAG NP_001394534.1:p.Ser1428Leufs frameshift NM_001407610.1:c.4279_4280delAG NP_001394539.1:p.Ser1427Leufs frameshift NM_001407611.1:c.4279_4280delAG NP_001394540.1:p.Ser1427Leufs frameshift NM_001407612.1:c.4279_4280delAG NP_001394541.1:p.Ser1427Leufs frameshift NM_001407613.1:c.4279_4280delAG NP_001394542.1:p.Ser1427Leufs frameshift NM_001407614.1:c.4279_4280delAG NP_001394543.1:p.Ser1427Leufs frameshift NM_001407615.1:c.4279_4280delAG NP_001394544.1:p.Ser1427Leufs frameshift NM_001407616.1:c.4282_4283delAG NP_001394545.1:p.Ser1428Leufs frameshift NM_001407617.1:c.4282_4283delAG NP_001394546.1:p.Ser1428Leufs frameshift NM_001407618.1:c.4282_4283delAG NP_001394547.1:p.Ser1428Leufs frameshift NM_001407619.1:c.4282_4283delAG NP_001394548.1:p.Ser1428Leufs frameshift NM_001407620.1:c.4282_4283delAG NP_001394549.1:p.Ser1428Leufs frameshift NM_001407621.1:c.4282_4283delAG NP_001394550.1:p.Ser1428Leufs frameshift NM_001407622.1:c.4282_4283delAG NP_001394551.1:p.Ser1428Leufs frameshift NM_001407623.1:c.4282_4283delAG NP_001394552.1:p.Ser1428Leufs frameshift NM_001407624.1:c.4279_4280delAG NP_001394553.1:p.Ser1427Leufs frameshift NM_001407625.1:c.4279_4280delAG NP_001394554.1:p.Ser1427Leufs frameshift NM_001407626.1:c.4279_4280delAG NP_001394555.1:p.Ser1427Leufs frameshift NM_001407627.1:c.4276_4277delAG NP_001394556.1:p.Ser1426Leufs frameshift NM_001407628.1:c.4276_4277delAG NP_001394557.1:p.Ser1426Leufs frameshift NM_001407629.1:c.4276_4277delAG NP_001394558.1:p.Ser1426Leufs frameshift NM_001407630.1:c.4276_4277delAG NP_001394559.1:p.Ser1426Leufs frameshift NM_001407631.1:c.4276_4277delAG NP_001394560.1:p.Ser1426Leufs frameshift NM_001407632.1:c.4276_4277delAG NP_001394561.1:p.Ser1426Leufs frameshift NM_001407633.1:c.4279_4280delAG NP_001394562.1:p.Ser1427Leufs frameshift NM_001407634.1:c.4279_4280delAG NP_001394563.1:p.Ser1427Leufs frameshift NM_001407635.1:c.4279_4280delAG NP_001394564.1:p.Ser1427Leufs frameshift NM_001407636.1:c.4279_4280delAG NP_001394565.1:p.Ser1427Leufs frameshift NM_001407637.1:c.4279_4280delAG NP_001394566.1:p.Ser1427Leufs frameshift NM_001407638.1:c.4279_4280delAG NP_001394567.1:p.Ser1427Leufs frameshift NM_001407639.1:c.4279_4280delAG NP_001394568.1:p.Ser1427Leufs frameshift NM_001407640.1:c.4279_4280delAG NP_001394569.1:p.Ser1427Leufs frameshift NM_001407641.1:c.4279_4280delAG NP_001394570.1:p.Ser1427Leufs frameshift NM_001407642.1:c.4279_4280delAG NP_001394571.1:p.Ser1427Leufs frameshift NM_001407644.1:c.4276_4277delAG NP_001394573.1:p.Ser1426Leufs frameshift NM_001407645.1:c.4276_4277delAG NP_001394574.1:p.Ser1426Leufs frameshift NM_001407646.1:c.4270_4271delAG NP_001394575.1:p.Ser1424Leufs frameshift NM_001407647.1:c.4270_4271delAG NP_001394576.1:p.Ser1424Leufs frameshift NM_001407648.1:c.4159_4160delAG NP_001394577.1:p.Ser1387Leufs frameshift NM_001407649.1:c.4156_4157delAG NP_001394578.1:p.Ser1386Leufs frameshift NM_001407652.1:c.4282_4283delAG NP_001394581.1:p.Ser1428Leufs frameshift NM_001407653.1:c.4204_4205delAG NP_001394582.1:p.Ser1402Leufs frameshift NM_001407654.1:c.4204_4205delAG NP_001394583.1:p.Ser1402Leufs frameshift NM_001407655.1:c.4204_4205delAG NP_001394584.1:p.Ser1402Leufs frameshift NM_001407656.1:c.4201_4202delAG NP_001394585.1:p.Ser1401Leufs frameshift NM_001407657.1:c.4204_4205delAG NP_001394586.1:p.Ser1402Leufs frameshift NM_001407658.1:c.4204_4205delAG NP_001394587.1:p.Ser1402Leufs frameshift NM_001407659.1:c.4198_4199delAG NP_001394588.1:p.Ser1400Leufs frameshift NM_001407660.1:c.4198_4199delAG NP_001394589.1:p.Ser1400Leufs frameshift NM_001407661.1:c.4201_4202delAG NP_001394590.1:p.Ser1401Leufs frameshift NM_001407662.1:c.4201_4202delAG NP_001394591.1:p.Ser1401Leufs frameshift NM_001407663.1:c.4201_4202delAG NP_001394592.1:p.Ser1401Leufs frameshift NM_001407664.1:c.4159_4160delAG NP_001394593.1:p.Ser1387Leufs frameshift NM_001407665.1:c.4159_4160delAG NP_001394594.1:p.Ser1387Leufs frameshift NM_001407666.1:c.4159_4160delAG NP_001394595.1:p.Ser1387Leufs frameshift NM_001407667.1:c.4159_4160delAG NP_001394596.1:p.Ser1387Leufs frameshift NM_001407668.1:c.4159_4160delAG NP_001394597.1:p.Ser1387Leufs frameshift NM_001407669.1:c.4159_4160delAG NP_001394598.1:p.Ser1387Leufs frameshift NM_001407670.1:c.4156_4157delAG NP_001394599.1:p.Ser1386Leufs frameshift NM_001407671.1:c.4156_4157delAG NP_001394600.1:p.Ser1386Leufs frameshift NM_001407672.1:c.4156_4157delAG NP_001394601.1:p.Ser1386Leufs frameshift NM_001407673.1:c.4156_4157delAG NP_001394602.1:p.Ser1386Leufs frameshift NM_001407674.1:c.4156_4157delAG NP_001394603.1:p.Ser1386Leufs frameshift NM_001407675.1:c.4156_4157delAG NP_001394604.1:p.Ser1386Leufs frameshift NM_001407676.1:c.4156_4157delAG NP_001394605.1:p.Ser1386Leufs frameshift NM_001407677.1:c.4159_4160delAG NP_001394606.1:p.Ser1387Leufs frameshift NM_001407678.1:c.4159_4160delAG NP_001394607.1:p.Ser1387Leufs frameshift NM_001407679.1:c.4159_4160delAG NP_001394608.1:p.Ser1387Leufs frameshift NM_001407680.1:c.4159_4160delAG NP_001394609.1:p.Ser1387Leufs frameshift NM_001407681.1:c.4156_4157delAG NP_001394610.1:p.Ser1386Leufs frameshift NM_001407682.1:c.4156_4157delAG NP_001394611.1:p.Ser1386Leufs frameshift NM_001407683.1:c.4156_4157delAG NP_001394612.1:p.Ser1386Leufs frameshift NM_001407684.1:c.4282_4283delAG NP_001394613.1:p.Ser1428Leufs frameshift NM_001407685.1:c.4153_4154delAG NP_001394614.1:p.Ser1385Leufs frameshift NM_001407686.1:c.4153_4154delAG NP_001394615.1:p.Ser1385Leufs frameshift NM_001407687.1:c.4153_4154delAG NP_001394616.1:p.Ser1385Leufs frameshift NM_001407688.1:c.4156_4157delAG NP_001394617.1:p.Ser1386Leufs frameshift NM_001407689.1:c.4156_4157delAG NP_001394618.1:p.Ser1386Leufs frameshift NM_001407690.1:c.4153_4154delAG NP_001394619.1:p.Ser1385Leufs frameshift NM_001407691.1:c.4153_4154delAG NP_001394620.1:p.Ser1385Leufs frameshift NM_001407692.1:c.4141_4142delAG NP_001394621.1:p.Ser1381Leufs frameshift NM_001407694.1:c.4141_4142delAG NP_001394623.1:p.Ser1381Leufs frameshift NM_001407695.1:c.4141_4142delAG NP_001394624.1:p.Ser1381Leufs frameshift NM_001407696.1:c.4141_4142delAG NP_001394625.1:p.Ser1381Leufs frameshift NM_001407697.1:c.4141_4142delAG NP_001394626.1:p.Ser1381Leufs frameshift NM_001407698.1:c.4141_4142delAG NP_001394627.1:p.Ser1381Leufs frameshift NM_001407724.1:c.4141_4142delAG NP_001394653.1:p.Ser1381Leufs frameshift NM_001407725.1:c.4141_4142delAG NP_001394654.1:p.Ser1381Leufs frameshift NM_001407726.1:c.4141_4142delAG NP_001394655.1:p.Ser1381Leufs frameshift NM_001407727.1:c.4141_4142delAG NP_001394656.1:p.Ser1381Leufs frameshift NM_001407728.1:c.4141_4142delAG NP_001394657.1:p.Ser1381Leufs frameshift NM_001407729.1:c.4141_4142delAG NP_001394658.1:p.Ser1381Leufs frameshift NM_001407730.1:c.4141_4142delAG NP_001394659.1:p.Ser1381Leufs frameshift NM_001407731.1:c.4141_4142delAG NP_001394660.1:p.Ser1381Leufs frameshift NM_001407732.1:c.4141_4142delAG NP_001394661.1:p.Ser1381Leufs frameshift NM_001407733.1:c.4141_4142delAG NP_001394662.1:p.Ser1381Leufs frameshift NM_001407734.1:c.4141_4142delAG NP_001394663.1:p.Ser1381Leufs frameshift NM_001407735.1:c.4141_4142delAG NP_001394664.1:p.Ser1381Leufs frameshift NM_001407736.1:c.4141_4142delAG NP_001394665.1:p.Ser1381Leufs frameshift NM_001407737.1:c.4141_4142delAG NP_001394666.1:p.Ser1381Leufs frameshift NM_001407738.1:c.4141_4142delAG NP_001394667.1:p.Ser1381Leufs frameshift NM_001407739.1:c.4141_4142delAG NP_001394668.1:p.Ser1381Leufs frameshift NM_001407740.1:c.4138_4139delAG NP_001394669.1:p.Ser1380Leufs frameshift NM_001407741.1:c.4138_4139delAG NP_001394670.1:p.Ser1380Leufs frameshift NM_001407742.1:c.4138_4139delAG NP_001394671.1:p.Ser1380Leufs frameshift NM_001407743.1:c.4138_4139delAG NP_001394672.1:p.Ser1380Leufs frameshift NM_001407744.1:c.4138_4139delAG NP_001394673.1:p.Ser1380Leufs frameshift NM_001407745.1:c.4138_4139delAG NP_001394674.1:p.Ser1380Leufs frameshift NM_001407746.1:c.4138_4139delAG NP_001394675.1:p.Ser1380Leufs frameshift NM_001407747.1:c.4138_4139delAG NP_001394676.1:p.Ser1380Leufs frameshift NM_001407748.1:c.4138_4139delAG NP_001394677.1:p.Ser1380Leufs frameshift NM_001407749.1:c.4138_4139delAG NP_001394678.1:p.Ser1380Leufs frameshift NM_001407750.1:c.4138_4139delAG NP_001394679.1:p.Ser1380Leufs frameshift NM_001407751.1:c.4138_4139delAG NP_001394680.1:p.Ser1380Leufs frameshift NM_001407752.1:c.4138_4139delAG NP_001394681.1:p.Ser1380Leufs frameshift NM_001407838.1:c.4138_4139delAG NP_001394767.1:p.Ser1380Leufs frameshift NM_001407839.1:c.4138_4139delAG NP_001394768.1:p.Ser1380Leufs frameshift NM_001407841.1:c.4138_4139delAG NP_001394770.1:p.Ser1380Leufs frameshift NM_001407842.1:c.4138_4139delAG NP_001394771.1:p.Ser1380Leufs frameshift NM_001407843.1:c.4138_4139delAG NP_001394772.1:p.Ser1380Leufs frameshift NM_001407844.1:c.4138_4139delAG NP_001394773.1:p.Ser1380Leufs frameshift NM_001407845.1:c.4138_4139delAG NP_001394774.1:p.Ser1380Leufs frameshift NM_001407846.1:c.4138_4139delAG NP_001394775.1:p.Ser1380Leufs frameshift NM_001407847.1:c.4135_4136delAG NP_001394776.1:p.Ser1379Leufs frameshift NM_001407848.1:c.4135_4136delAG NP_001394777.1:p.Ser1379Leufs frameshift NM_001407849.1:c.4135_4136delAG NP_001394778.1:p.Ser1379Leufs frameshift NM_001407850.1:c.4138_4139delAG NP_001394779.1:p.Ser1380Leufs frameshift NM_001407851.1:c.4138_4139delAG NP_001394780.1:p.Ser1380Leufs frameshift NM_001407852.1:c.4138_4139delAG NP_001394781.1:p.Ser1380Leufs frameshift NM_001407853.1:c.4069_4070delAG NP_001394782.1:p.Ser1357Leufs frameshift NM_001407854.1:c.4282_4283delAG NP_001394783.1:p.Ser1428Leufs frameshift NM_001407858.1:c.4282_4283delAG NP_001394787.1:p.Ser1428Leufs frameshift NM_001407859.1:c.4282_4283delAG NP_001394788.1:p.Ser1428Leufs frameshift NM_001407860.1:c.4279_4280delAG NP_001394789.1:p.Ser1427Leufs frameshift NM_001407861.1:c.4279_4280delAG NP_001394790.1:p.Ser1427Leufs frameshift NM_001407862.1:c.4081_4082delAG NP_001394791.1:p.Ser1361Leufs frameshift NM_001407863.1:c.4159_4160delAG NP_001394792.1:p.Ser1387Leufs frameshift NM_001407874.1:c.4078_4079delAG NP_001394803.1:p.Ser1360Leufs frameshift NM_001407875.1:c.4078_4079delAG NP_001394804.1:p.Ser1360Leufs frameshift NM_001407879.1:c.4072_4073delAG NP_001394808.1:p.Ser1358Leufs frameshift NM_001407881.1:c.4072_4073delAG NP_001394810.1:p.Ser1358Leufs frameshift NM_001407882.1:c.4072_4073delAG NP_001394811.1:p.Ser1358Leufs frameshift NM_001407884.1:c.4072_4073delAG NP_001394813.1:p.Ser1358Leufs frameshift NM_001407885.1:c.4072_4073delAG NP_001394814.1:p.Ser1358Leufs frameshift NM_001407886.1:c.4072_4073delAG NP_001394815.1:p.Ser1358Leufs frameshift NM_001407887.1:c.4072_4073delAG NP_001394816.1:p.Ser1358Leufs frameshift NM_001407889.1:c.4072_4073delAG NP_001394818.1:p.Ser1358Leufs frameshift NM_001407894.1:c.4069_4070delAG NP_001394823.1:p.Ser1357Leufs frameshift NM_001407895.1:c.4069_4070delAG NP_001394824.1:p.Ser1357Leufs frameshift NM_001407896.1:c.4069_4070delAG NP_001394825.1:p.Ser1357Leufs frameshift NM_001407897.1:c.4069_4070delAG NP_001394826.1:p.Ser1357Leufs frameshift NM_001407898.1:c.4069_4070delAG NP_001394827.1:p.Ser1357Leufs frameshift NM_001407899.1:c.4069_4070delAG NP_001394828.1:p.Ser1357Leufs frameshift NM_001407900.1:c.4072_4073delAG NP_001394829.1:p.Ser1358Leufs frameshift NM_001407902.1:c.4072_4073delAG NP_001394831.1:p.Ser1358Leufs frameshift NM_001407904.1:c.4072_4073delAG NP_001394833.1:p.Ser1358Leufs frameshift NM_001407906.1:c.4072_4073delAG NP_001394835.1:p.Ser1358Leufs frameshift NM_001407907.1:c.4069_4070delAG NP_001394836.1:p.Ser1357Leufs frameshift NM_001407908.1:c.4069_4070delAG NP_001394837.1:p.Ser1357Leufs frameshift NM_001407909.1:c.4069_4070delAG NP_001394838.1:p.Ser1357Leufs frameshift NM_001407910.1:c.4069_4070delAG NP_001394839.1:p.Ser1357Leufs frameshift NM_001407915.1:c.4066_4067delAG NP_001394844.1:p.Ser1356Leufs frameshift NM_001407916.1:c.4069_4070delAG NP_001394845.1:p.Ser1357Leufs frameshift NM_001407917.1:c.4069_4070delAG NP_001394846.1:p.Ser1357Leufs frameshift NM_001407918.1:c.4069_4070delAG NP_001394847.1:p.Ser1357Leufs frameshift NM_001407919.1:c.4159_4160delAG NP_001394848.1:p.Ser1387Leufs frameshift NM_001407920.1:c.4018_4019delAG NP_001394849.1:p.Ser1340Leufs frameshift NM_001407921.1:c.4018_4019delAG NP_001394850.1:p.Ser1340Leufs frameshift NM_001407922.1:c.4018_4019delAG NP_001394851.1:p.Ser1340Leufs frameshift NM_001407923.1:c.4018_4019delAG NP_001394852.1:p.Ser1340Leufs frameshift NM_001407924.1:c.4018_4019delAG NP_001394853.1:p.Ser1340Leufs frameshift NM_001407925.1:c.4018_4019delAG NP_001394854.1:p.Ser1340Leufs frameshift NM_001407926.1:c.4018_4019delAG NP_001394855.1:p.Ser1340Leufs frameshift NM_001407927.1:c.4018_4019delAG NP_001394856.1:p.Ser1340Leufs frameshift NM_001407928.1:c.4018_4019delAG NP_001394857.1:p.Ser1340Leufs frameshift NM_001407929.1:c.4018_4019delAG NP_001394858.1:p.Ser1340Leufs frameshift NM_001407930.1:c.4015_4016delAG NP_001394859.1:p.Ser1339Leufs frameshift NM_001407931.1:c.4015_4016delAG NP_001394860.1:p.Ser1339Leufs frameshift NM_001407932.1:c.4015_4016delAG NP_001394861.1:p.Ser1339Leufs frameshift NM_001407933.1:c.4015_4016delAG NP_001394862.1:p.Ser1339Leufs frameshift NM_001407934.1:c.4012_4013delAG NP_001394863.1:p.Ser1338Leufs frameshift NM_001407935.1:c.4015_4016delAG NP_001394864.1:p.Ser1339Leufs frameshift NM_001407936.1:c.4015_4016delAG NP_001394865.1:p.Ser1339Leufs frameshift NM_001407937.1:c.4159_4160delAG NP_001394866.1:p.Ser1387Leufs frameshift NM_001407938.1:c.4159_4160delAG NP_001394867.1:p.Ser1387Leufs frameshift NM_001407939.1:c.4159_4160delAG NP_001394868.1:p.Ser1387Leufs frameshift NM_001407940.1:c.4156_4157delAG NP_001394869.1:p.Ser1386Leufs frameshift NM_001407941.1:c.4156_4157delAG NP_001394870.1:p.Ser1386Leufs frameshift NM_001407942.1:c.4141_4142delAG NP_001394871.1:p.Ser1381Leufs frameshift NM_001407943.1:c.4138_4139delAG NP_001394872.1:p.Ser1380Leufs frameshift NM_001407944.1:c.4141_4142delAG NP_001394873.1:p.Ser1381Leufs frameshift NM_001407945.1:c.4141_4142delAG NP_001394874.1:p.Ser1381Leufs frameshift NM_001407946.1:c.3949_3950delAG NP_001394875.1:p.Ser1317Leufs frameshift NM_001407947.1:c.3949_3950delAG NP_001394876.1:p.Ser1317Leufs frameshift NM_001407948.1:c.3949_3950delAG NP_001394877.1:p.Ser1317Leufs frameshift NM_001407949.1:c.3949_3950delAG NP_001394878.1:p.Ser1317Leufs frameshift NM_001407950.1:c.3949_3950delAG NP_001394879.1:p.Ser1317Leufs frameshift NM_001407951.1:c.3949_3950delAG NP_001394880.1:p.Ser1317Leufs frameshift NM_001407952.1:c.3946_3947delAG NP_001394881.1:p.Ser1316Leufs frameshift NM_001407953.1:c.3946_3947delAG NP_001394882.1:p.Ser1316Leufs frameshift NM_001407954.1:c.3946_3947delAG NP_001394883.1:p.Ser1316Leufs frameshift NM_001407955.1:c.3946_3947delAG NP_001394884.1:p.Ser1316Leufs frameshift NM_001407956.1:c.3943_3944delAG NP_001394885.1:p.Ser1315Leufs frameshift NM_001407957.1:c.3946_3947delAG NP_001394886.1:p.Ser1316Leufs frameshift NM_001407958.1:c.3946_3947delAG NP_001394887.1:p.Ser1316Leufs frameshift NM_001407959.1:c.3901_3902delAG NP_001394888.1:p.Ser1301Leufs frameshift NM_001407960.1:c.3901_3902delAG NP_001394889.1:p.Ser1301Leufs frameshift NM_001407962.1:c.3898_3899delAG NP_001394891.1:p.Ser1300Leufs frameshift NM_001407963.1:c.3898_3899delAG NP_001394892.1:p.Ser1300Leufs frameshift NM_001407964.1:c.4138_4139delAG NP_001394893.1:p.Ser1380Leufs frameshift NM_001407965.1:c.3775_3776delAG NP_001394894.1:p.Ser1259Leufs frameshift NM_001407966.1:c.3394_3395delAG NP_001394895.1:p.Ser1132Leufs frameshift NM_001407967.1:c.3394_3395delAG NP_001394896.1:p.Ser1132Leufs frameshift NM_001407968.1:c.1678_1679delAG NP_001394897.1:p.Ser560Leufs frameshift NM_001407969.1:c.1675_1676delAG NP_001394898.1:p.Ser559Leufs frameshift NM_001407970.1:c.973_974delAG NP_001394899.1:p.Ser325Leufs frameshift NM_001407971.1:c.973_974delAG NP_001394900.1:p.Ser325Leufs frameshift NM_001407972.1:c.970_971delAG NP_001394901.1:p.Ser324Leufs frameshift NM_001407973.1:c.973_974delAG NP_001394902.1:p.Ser325Leufs frameshift NM_001407974.1:c.973_974delAG NP_001394903.1:p.Ser325Leufs frameshift NM_001407975.1:c.973_974delAG NP_001394904.1:p.Ser325Leufs frameshift NM_001407976.1:c.973_974delAG NP_001394905.1:p.Ser325Leufs frameshift NM_001407977.1:c.973_974delAG NP_001394906.1:p.Ser325Leufs frameshift NM_001407978.1:c.973_974delAG NP_001394907.1:p.Ser325Leufs frameshift NM_001407979.1:c.970_971delAG NP_001394908.1:p.Ser324Leufs frameshift NM_001407980.1:c.970_971delAG NP_001394909.1:p.Ser324Leufs frameshift NM_001407981.1:c.970_971delAG NP_001394910.1:p.Ser324Leufs frameshift NM_001407982.1:c.970_971delAG NP_001394911.1:p.Ser324Leufs frameshift NM_001407983.1:c.970_971delAG NP_001394912.1:p.Ser324Leufs frameshift NM_001407984.1:c.970_971delAG NP_001394913.1:p.Ser324Leufs frameshift NM_001407985.1:c.970_971delAG NP_001394914.1:p.Ser324Leufs frameshift NM_001407986.1:c.970_971delAG NP_001394915.1:p.Ser324Leufs frameshift NM_001407990.1:c.970_971delAG NP_001394919.1:p.Ser324Leufs frameshift NM_001407991.1:c.970_971delAG NP_001394920.1:p.Ser324Leufs frameshift NM_001407992.1:c.970_971delAG NP_001394921.1:p.Ser324Leufs frameshift NM_001407993.1:c.973_974delAG NP_001394922.1:p.Ser325Leufs frameshift NM_001408392.1:c.970_971delAG NP_001395321.1:p.Ser324Leufs frameshift NM_001408396.1:c.970_971delAG NP_001395325.1:p.Ser324Leufs frameshift NM_001408397.1:c.970_971delAG NP_001395326.1:p.Ser324Leufs frameshift NM_001408398.1:c.970_971delAG NP_001395327.1:p.Ser324Leufs frameshift NM_001408399.1:c.970_971delAG NP_001395328.1:p.Ser324Leufs frameshift NM_001408400.1:c.967_968delAG NP_001395329.1:p.Ser323Leufs frameshift NM_001408401.1:c.967_968delAG NP_001395330.1:p.Ser323Leufs frameshift NM_001408402.1:c.967_968delAG NP_001395331.1:p.Ser323Leufs frameshift NM_001408403.1:c.970_971delAG NP_001395332.1:p.Ser324Leufs frameshift NM_001408404.1:c.970_971delAG NP_001395333.1:p.Ser324Leufs frameshift NM_001408406.1:c.964_965delAG NP_001395335.1:p.Ser322Leufs frameshift NM_001408407.1:c.967_968delAG NP_001395336.1:p.Ser323Leufs frameshift NM_001408408.1:c.964_965delAG NP_001395337.1:p.Ser322Leufs frameshift NM_001408409.1:c.895_896delAG NP_001395338.1:p.Ser299Leufs frameshift NM_001408410.1:c.832_833delAG NP_001395339.1:p.Ser278Leufs frameshift NM_001408411.1:c.895_896delAG NP_001395340.1:p.Ser299Leufs frameshift NM_001408412.1:c.895_896delAG NP_001395341.1:p.Ser299Leufs frameshift NM_001408413.1:c.892_893delAG NP_001395342.1:p.Ser298Leufs frameshift NM_001408414.1:c.895_896delAG NP_001395343.1:p.Ser299Leufs frameshift NM_001408415.1:c.895_896delAG NP_001395344.1:p.Ser299Leufs frameshift NM_001408416.1:c.892_893delAG NP_001395345.1:p.Ser298Leufs frameshift NM_001408418.1:c.856_857delAG NP_001395347.1:p.Ser286Leufs frameshift NM_001408419.1:c.856_857delAG NP_001395348.1:p.Ser286Leufs frameshift NM_001408420.1:c.856_857delAG NP_001395349.1:p.Ser286Leufs frameshift NM_001408421.1:c.853_854delAG NP_001395350.1:p.Ser285Leufs frameshift NM_001408422.1:c.856_857delAG NP_001395351.1:p.Ser286Leufs frameshift NM_001408423.1:c.856_857delAG NP_001395352.1:p.Ser286Leufs frameshift NM_001408424.1:c.853_854delAG NP_001395353.1:p.Ser285Leufs frameshift NM_001408425.1:c.850_851delAG NP_001395354.1:p.Ser284Leufs frameshift NM_001408426.1:c.850_851delAG NP_001395355.1:p.Ser284Leufs frameshift NM_001408427.1:c.850_851delAG NP_001395356.1:p.Ser284Leufs frameshift NM_001408428.1:c.850_851delAG NP_001395357.1:p.Ser284Leufs frameshift NM_001408429.1:c.850_851delAG NP_001395358.1:p.Ser284Leufs frameshift NM_001408430.1:c.850_851delAG NP_001395359.1:p.Ser284Leufs frameshift NM_001408431.1:c.853_854delAG NP_001395360.1:p.Ser285Leufs frameshift NM_001408432.1:c.847_848delAG NP_001395361.1:p.Ser283Leufs frameshift NM_001408433.1:c.847_848delAG NP_001395362.1:p.Ser283Leufs frameshift NM_001408434.1:c.847_848delAG NP_001395363.1:p.Ser283Leufs frameshift NM_001408435.1:c.847_848delAG NP_001395364.1:p.Ser283Leufs frameshift NM_001408436.1:c.850_851delAG NP_001395365.1:p.Ser284Leufs frameshift NM_001408437.1:c.850_851delAG NP_001395366.1:p.Ser284Leufs frameshift NM_001408438.1:c.850_851delAG NP_001395367.1:p.Ser284Leufs frameshift NM_001408439.1:c.850_851delAG NP_001395368.1:p.Ser284Leufs frameshift NM_001408440.1:c.850_851delAG NP_001395369.1:p.Ser284Leufs frameshift NM_001408441.1:c.847_848delAG NP_001395370.1:p.Ser283Leufs frameshift NM_001408442.1:c.847_848delAG NP_001395371.1:p.Ser283Leufs frameshift NM_001408443.1:c.847_848delAG NP_001395372.1:p.Ser283Leufs frameshift NM_001408444.1:c.847_848delAG NP_001395373.1:p.Ser283Leufs frameshift NM_001408445.1:c.847_848delAG NP_001395374.1:p.Ser283Leufs frameshift NM_001408446.1:c.847_848delAG NP_001395375.1:p.Ser283Leufs frameshift NM_001408447.1:c.847_848delAG NP_001395376.1:p.Ser283Leufs frameshift NM_001408448.1:c.847_848delAG NP_001395377.1:p.Ser283Leufs frameshift NM_001408450.1:c.847_848delAG NP_001395379.1:p.Ser283Leufs frameshift NM_001408451.1:c.838_839delAG NP_001395380.1:p.Ser280Leufs frameshift NM_001408452.1:c.832_833delAG NP_001395381.1:p.Ser278Leufs frameshift NM_001408453.1:c.832_833delAG NP_001395382.1:p.Ser278Leufs frameshift NM_001408454.1:c.832_833delAG NP_001395383.1:p.Ser278Leufs frameshift NM_001408455.1:c.832_833delAG NP_001395384.1:p.Ser278Leufs frameshift NM_001408456.1:c.832_833delAG NP_001395385.1:p.Ser278Leufs frameshift NM_001408457.1:c.832_833delAG NP_001395386.1:p.Ser278Leufs frameshift NM_001408458.1:c.832_833delAG NP_001395387.1:p.Ser278Leufs frameshift NM_001408459.1:c.832_833delAG NP_001395388.1:p.Ser278Leufs frameshift NM_001408460.1:c.832_833delAG NP_001395389.1:p.Ser278Leufs frameshift NM_001408461.1:c.832_833delAG NP_001395390.1:p.Ser278Leufs frameshift NM_001408462.1:c.829_830delAG NP_001395391.1:p.Ser277Leufs frameshift NM_001408463.1:c.829_830delAG NP_001395392.1:p.Ser277Leufs frameshift NM_001408464.1:c.829_830delAG NP_001395393.1:p.Ser277Leufs frameshift NM_001408465.1:c.829_830delAG NP_001395394.1:p.Ser277Leufs frameshift NM_001408466.1:c.829_830delAG NP_001395395.1:p.Ser277Leufs frameshift NM_001408467.1:c.829_830delAG NP_001395396.1:p.Ser277Leufs frameshift NM_001408468.1:c.829_830delAG NP_001395397.1:p.Ser277Leufs frameshift NM_001408469.1:c.829_830delAG NP_001395398.1:p.Ser277Leufs frameshift NM_001408470.1:c.826_827delAG NP_001395399.1:p.Ser276Leufs frameshift NM_001408472.1:c.970_971delAG NP_001395401.1:p.Ser324Leufs frameshift NM_001408473.1:c.970_971delAG NP_001395402.1:p.Ser324Leufs frameshift NM_001408474.1:c.772_773delAG NP_001395403.1:p.Ser258Leufs frameshift NM_001408475.1:c.769_770delAG NP_001395404.1:p.Ser257Leufs frameshift NM_001408476.1:c.772_773delAG NP_001395405.1:p.Ser258Leufs frameshift NM_001408478.1:c.763_764delAG NP_001395407.1:p.Ser255Leufs frameshift NM_001408479.1:c.763_764delAG NP_001395408.1:p.Ser255Leufs frameshift NM_001408480.1:c.763_764delAG NP_001395409.1:p.Ser255Leufs frameshift NM_001408481.1:c.763_764delAG NP_001395410.1:p.Ser255Leufs frameshift NM_001408482.1:c.763_764delAG NP_001395411.1:p.Ser255Leufs frameshift NM_001408483.1:c.763_764delAG NP_001395412.1:p.Ser255Leufs frameshift NM_001408484.1:c.763_764delAG NP_001395413.1:p.Ser255Leufs frameshift NM_001408485.1:c.763_764delAG NP_001395414.1:p.Ser255Leufs frameshift NM_001408489.1:c.760_761delAG NP_001395418.1:p.Ser254Leufs frameshift NM_001408490.1:c.760_761delAG NP_001395419.1:p.Ser254Leufs frameshift NM_001408491.1:c.760_761delAG NP_001395420.1:p.Ser254Leufs frameshift NM_001408492.1:c.760_761delAG NP_001395421.1:p.Ser254Leufs frameshift NM_001408493.1:c.760_761delAG NP_001395422.1:p.Ser254Leufs frameshift NM_001408494.1:c.733_734delAG NP_001395423.1:p.Ser245Leufs frameshift NM_001408495.1:c.730_731delAG NP_001395424.1:p.Ser244Leufs frameshift NM_001408496.1:c.709_710delAG NP_001395425.1:p.Ser237Leufs frameshift NM_001408497.1:c.709_710delAG NP_001395426.1:p.Ser237Leufs frameshift NM_001408498.1:c.709_710delAG NP_001395427.1:p.Ser237Leufs frameshift NM_001408499.1:c.709_710delAG NP_001395428.1:p.Ser237Leufs frameshift NM_001408500.1:c.709_710delAG NP_001395429.1:p.Ser237Leufs frameshift NM_001408501.1:c.709_710delAG NP_001395430.1:p.Ser237Leufs frameshift NM_001408502.1:c.640_641delAG NP_001395431.1:p.Ser214Leufs frameshift NM_001408503.1:c.706_707delAG NP_001395432.1:p.Ser236Leufs frameshift NM_001408504.1:c.706_707delAG NP_001395433.1:p.Ser236Leufs frameshift NM_001408505.1:c.706_707delAG NP_001395434.1:p.Ser236Leufs frameshift NM_001408506.1:c.646_647delAG NP_001395435.1:p.Ser216Leufs frameshift NM_001408507.1:c.643_644delAG NP_001395436.1:p.Ser215Leufs frameshift NM_001408508.1:c.634_635delAG NP_001395437.1:p.Ser212Leufs frameshift NM_001408509.1:c.634_635delAG NP_001395438.1:p.Ser212Leufs frameshift NM_001408510.1:c.592_593delAG NP_001395439.1:p.Ser198Leufs frameshift NM_001408511.1:c.589_590delAG NP_001395440.1:p.Ser197Leufs frameshift NM_001408512.1:c.469_470delAG NP_001395441.1:p.Ser157Leufs frameshift NM_001408513.1:c.760_761delAG NP_001395442.1:p.Ser254Leufs frameshift NM_001408514.1:c.763_764delAG NP_001395443.1:p.Ser255Leufs frameshift NM_007297.4:c.4141_4142del NP_009228.2:p.Ser1381fs frameshift NM_007298.4:c.973_974delAG NP_009229.2:p.Ser325Leufs frameshift NM_007299.4:c.973_974del NP_009230.2:p.Ser325fs frameshift NM_007300.4:c.4282_4283del NP_009231.2:p.Ser1428fs frameshift NM_007304.2:c.973_974delAG NP_009235.2:p.Ser325Leufs frameshift NR_027676.2:n.4459_4460del non-coding transcript variant NC_000017.11:g.43082478_43082479del NC_000017.10:g.41234495_41234496del NG_005905.2:g.135505_135506del LRG_292:g.135505_135506del LRG_292t1:c.4282_4283del LRG_292p1:p.Ser1428Leufs - Protein change
- S1428fs, S325fs, S1381fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43082477:CT:
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
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.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
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 | ||
---|---|---|---|---|---|---|
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. |
|||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12894 | 14680 |
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. |
---|---|---|---|---|
not provided (1) |
no classification provided
|
- | RCV000577128.2 | |
Pathogenic (1) |
reviewed by expert panel
|
Dec 15, 2017 | RCV000661119.2 |
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. |
|
---|---|---|---|---|---|
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: SCV000783367.1 First in ClinVar: Jul 13, 2018 Last updated: Jul 13, 2018 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
not provided
(-)
|
no classification provided
Method: literature only
|
Familial cancer of breast
Affected status: yes
Allele origin:
germline
|
ClinVar Staff, National Center for Biotechnology Information (NCBI)
Accession: SCV000679278.1
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 |
---|---|---|---|---|
A novel mutation in the BRCA1 gene in a German early-onset breast cancer family. | Waindzoch B | Human mutation | 1996 | PMID: 8956054 |
Text-mined citations for rs397509159 ...
HelpRecord last updated Mar 30, 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.