Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4206_4207del (p.His1402fs)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Pathogenic
Oct 2016 by
Evidence-based…
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.4206_4207del (p.His1402fs)
Variation ID: 266458 Accession: VCV000266458.6
- Type and length
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Deletion, 2 bp
- Location
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Cytogenetic: 17q21.31 17: 43082554-43082555 (GRCh38) [ NCBI UCSC ] 17: 41234571-41234572 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Oct 22, 2016 Feb 7, 2023 Oct 18, 2016 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4206_4207del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.His1402fs frameshift NM_001407571.1:c.3992_3993delAT NP_001394500.1:p.His1331Glnfs frameshift NM_001407581.1:c.4205_4206delAT NP_001394510.1:p.His1402Glnfs frameshift NM_001407582.1:c.4205_4206delAT NP_001394511.1:p.His1402Glnfs frameshift NM_001407583.1:c.4205_4206delAT NP_001394512.1:p.His1402Glnfs frameshift NM_001407585.1:c.4205_4206delAT NP_001394514.1:p.His1402Glnfs frameshift NM_001407587.1:c.4202_4203delAT NP_001394516.1:p.His1401Glnfs frameshift NM_001407590.1:c.4202_4203delAT NP_001394519.1:p.His1401Glnfs frameshift NM_001407591.1:c.4202_4203delAT NP_001394520.1:p.His1401Glnfs frameshift NM_001407593.1:c.4205_4206delAT NP_001394522.1:p.His1402Glnfs frameshift NM_001407594.1:c.4205_4206delAT NP_001394523.1:p.His1402Glnfs frameshift NM_001407596.1:c.4205_4206delAT NP_001394525.1:p.His1402Glnfs frameshift NM_001407597.1:c.4205_4206delAT NP_001394526.1:p.His1402Glnfs frameshift NM_001407598.1:c.4205_4206delAT NP_001394527.1:p.His1402Glnfs frameshift NM_001407602.1:c.4205_4206delAT NP_001394531.1:p.His1402Glnfs frameshift NM_001407603.1:c.4205_4206delAT NP_001394532.1:p.His1402Glnfs frameshift NM_001407605.1:c.4205_4206delAT NP_001394534.1:p.His1402Glnfs frameshift NM_001407610.1:c.4202_4203delAT NP_001394539.1:p.His1401Glnfs frameshift NM_001407611.1:c.4202_4203delAT NP_001394540.1:p.His1401Glnfs frameshift NM_001407612.1:c.4202_4203delAT NP_001394541.1:p.His1401Glnfs frameshift NM_001407613.1:c.4202_4203delAT NP_001394542.1:p.His1401Glnfs frameshift NM_001407614.1:c.4202_4203delAT NP_001394543.1:p.His1401Glnfs frameshift NM_001407615.1:c.4202_4203delAT NP_001394544.1:p.His1401Glnfs frameshift NM_001407616.1:c.4205_4206delAT NP_001394545.1:p.His1402Glnfs frameshift NM_001407617.1:c.4205_4206delAT NP_001394546.1:p.His1402Glnfs frameshift NM_001407618.1:c.4205_4206delAT NP_001394547.1:p.His1402Glnfs frameshift NM_001407619.1:c.4205_4206delAT NP_001394548.1:p.His1402Glnfs frameshift NM_001407620.1:c.4205_4206delAT NP_001394549.1:p.His1402Glnfs frameshift NM_001407621.1:c.4205_4206delAT NP_001394550.1:p.His1402Glnfs frameshift NM_001407622.1:c.4205_4206delAT NP_001394551.1:p.His1402Glnfs frameshift NM_001407623.1:c.4205_4206delAT NP_001394552.1:p.His1402Glnfs frameshift NM_001407624.1:c.4202_4203delAT NP_001394553.1:p.His1401Glnfs frameshift NM_001407625.1:c.4202_4203delAT NP_001394554.1:p.His1401Glnfs frameshift NM_001407626.1:c.4202_4203delAT NP_001394555.1:p.His1401Glnfs frameshift NM_001407627.1:c.4199_4200delAT NP_001394556.1:p.His1400Glnfs frameshift NM_001407628.1:c.4199_4200delAT NP_001394557.1:p.His1400Glnfs frameshift NM_001407629.1:c.4199_4200delAT NP_001394558.1:p.His1400Glnfs frameshift NM_001407630.1:c.4199_4200delAT NP_001394559.1:p.His1400Glnfs frameshift NM_001407631.1:c.4199_4200delAT NP_001394560.1:p.His1400Glnfs frameshift NM_001407632.1:c.4199_4200delAT NP_001394561.1:p.His1400Glnfs frameshift NM_001407633.1:c.4202_4203delAT NP_001394562.1:p.His1401Glnfs frameshift NM_001407634.1:c.4202_4203delAT NP_001394563.1:p.His1401Glnfs frameshift NM_001407635.1:c.4202_4203delAT NP_001394564.1:p.His1401Glnfs frameshift NM_001407636.1:c.4202_4203delAT NP_001394565.1:p.His1401Glnfs frameshift NM_001407637.1:c.4202_4203delAT NP_001394566.1:p.His1401Glnfs frameshift NM_001407638.1:c.4202_4203delAT NP_001394567.1:p.His1401Glnfs frameshift NM_001407639.1:c.4202_4203delAT NP_001394568.1:p.His1401Glnfs frameshift NM_001407640.1:c.4202_4203delAT NP_001394569.1:p.His1401Glnfs frameshift NM_001407641.1:c.4202_4203delAT NP_001394570.1:p.His1401Glnfs frameshift NM_001407642.1:c.4202_4203delAT NP_001394571.1:p.His1401Glnfs frameshift NM_001407644.1:c.4199_4200delAT NP_001394573.1:p.His1400Glnfs frameshift NM_001407645.1:c.4199_4200delAT NP_001394574.1:p.His1400Glnfs frameshift NM_001407646.1:c.4193_4194delAT NP_001394575.1:p.His1398Glnfs frameshift NM_001407647.1:c.4193_4194delAT NP_001394576.1:p.His1398Glnfs frameshift NM_001407648.1:c.4082_4083delAT NP_001394577.1:p.His1361Glnfs frameshift NM_001407649.1:c.4079_4080delAT NP_001394578.1:p.His1360Glnfs frameshift NM_001407652.1:c.4205_4206delAT NP_001394581.1:p.His1402Glnfs frameshift NM_001407653.1:c.4127_4128delAT NP_001394582.1:p.His1376Glnfs frameshift NM_001407654.1:c.4127_4128delAT NP_001394583.1:p.His1376Glnfs frameshift NM_001407655.1:c.4127_4128delAT NP_001394584.1:p.His1376Glnfs frameshift NM_001407656.1:c.4124_4125delAT NP_001394585.1:p.His1375Glnfs frameshift NM_001407657.1:c.4127_4128delAT NP_001394586.1:p.His1376Glnfs frameshift NM_001407658.1:c.4127_4128delAT NP_001394587.1:p.His1376Glnfs frameshift NM_001407659.1:c.4121_4122delAT NP_001394588.1:p.His1374Glnfs frameshift NM_001407660.1:c.4121_4122delAT NP_001394589.1:p.His1374Glnfs frameshift NM_001407661.1:c.4124_4125delAT NP_001394590.1:p.His1375Glnfs frameshift NM_001407662.1:c.4124_4125delAT NP_001394591.1:p.His1375Glnfs frameshift NM_001407663.1:c.4124_4125delAT NP_001394592.1:p.His1375Glnfs frameshift NM_001407664.1:c.4082_4083delAT NP_001394593.1:p.His1361Glnfs frameshift NM_001407665.1:c.4082_4083delAT NP_001394594.1:p.His1361Glnfs frameshift NM_001407666.1:c.4082_4083delAT NP_001394595.1:p.His1361Glnfs frameshift NM_001407667.1:c.4082_4083delAT NP_001394596.1:p.His1361Glnfs frameshift NM_001407668.1:c.4082_4083delAT NP_001394597.1:p.His1361Glnfs frameshift NM_001407669.1:c.4082_4083delAT NP_001394598.1:p.His1361Glnfs frameshift NM_001407670.1:c.4079_4080delAT NP_001394599.1:p.His1360Glnfs frameshift NM_001407671.1:c.4079_4080delAT NP_001394600.1:p.His1360Glnfs frameshift NM_001407672.1:c.4079_4080delAT NP_001394601.1:p.His1360Glnfs frameshift NM_001407673.1:c.4079_4080delAT NP_001394602.1:p.His1360Glnfs frameshift NM_001407674.1:c.4079_4080delAT NP_001394603.1:p.His1360Glnfs frameshift NM_001407675.1:c.4079_4080delAT NP_001394604.1:p.His1360Glnfs frameshift NM_001407676.1:c.4079_4080delAT NP_001394605.1:p.His1360Glnfs frameshift NM_001407677.1:c.4082_4083delAT NP_001394606.1:p.His1361Glnfs frameshift NM_001407678.1:c.4082_4083delAT NP_001394607.1:p.His1361Glnfs frameshift NM_001407679.1:c.4082_4083delAT NP_001394608.1:p.His1361Glnfs frameshift NM_001407680.1:c.4082_4083delAT NP_001394609.1:p.His1361Glnfs frameshift NM_001407681.1:c.4079_4080delAT NP_001394610.1:p.His1360Glnfs frameshift NM_001407682.1:c.4079_4080delAT NP_001394611.1:p.His1360Glnfs frameshift NM_001407683.1:c.4079_4080delAT NP_001394612.1:p.His1360Glnfs frameshift NM_001407684.1:c.4205_4206delAT NP_001394613.1:p.His1402Glnfs frameshift NM_001407685.1:c.4076_4077delAT NP_001394614.1:p.His1359Glnfs frameshift NM_001407686.1:c.4076_4077delAT NP_001394615.1:p.His1359Glnfs frameshift NM_001407687.1:c.4076_4077delAT NP_001394616.1:p.His1359Glnfs frameshift NM_001407688.1:c.4079_4080delAT NP_001394617.1:p.His1360Glnfs frameshift NM_001407689.1:c.4079_4080delAT NP_001394618.1:p.His1360Glnfs frameshift NM_001407690.1:c.4076_4077delAT NP_001394619.1:p.His1359Glnfs frameshift NM_001407691.1:c.4076_4077delAT NP_001394620.1:p.His1359Glnfs frameshift NM_001407692.1:c.4064_4065delAT NP_001394621.1:p.His1355Glnfs frameshift NM_001407694.1:c.4064_4065delAT NP_001394623.1:p.His1355Glnfs frameshift NM_001407695.1:c.4064_4065delAT NP_001394624.1:p.His1355Glnfs frameshift NM_001407696.1:c.4064_4065delAT NP_001394625.1:p.His1355Glnfs frameshift NM_001407697.1:c.4064_4065delAT NP_001394626.1:p.His1355Glnfs frameshift NM_001407698.1:c.4064_4065delAT NP_001394627.1:p.His1355Glnfs frameshift NM_001407724.1:c.4064_4065delAT NP_001394653.1:p.His1355Glnfs frameshift NM_001407725.1:c.4064_4065delAT NP_001394654.1:p.His1355Glnfs frameshift NM_001407726.1:c.4064_4065delAT NP_001394655.1:p.His1355Glnfs frameshift NM_001407727.1:c.4064_4065delAT NP_001394656.1:p.His1355Glnfs frameshift NM_001407728.1:c.4064_4065delAT NP_001394657.1:p.His1355Glnfs frameshift NM_001407729.1:c.4064_4065delAT NP_001394658.1:p.His1355Glnfs frameshift NM_001407730.1:c.4064_4065delAT NP_001394659.1:p.His1355Glnfs frameshift NM_001407731.1:c.4064_4065delAT NP_001394660.1:p.His1355Glnfs frameshift NM_001407732.1:c.4064_4065delAT NP_001394661.1:p.His1355Glnfs frameshift NM_001407733.1:c.4064_4065delAT NP_001394662.1:p.His1355Glnfs frameshift NM_001407734.1:c.4064_4065delAT NP_001394663.1:p.His1355Glnfs frameshift NM_001407735.1:c.4064_4065delAT NP_001394664.1:p.His1355Glnfs frameshift NM_001407736.1:c.4064_4065delAT NP_001394665.1:p.His1355Glnfs frameshift NM_001407737.1:c.4064_4065delAT NP_001394666.1:p.His1355Glnfs frameshift NM_001407738.1:c.4064_4065delAT NP_001394667.1:p.His1355Glnfs frameshift NM_001407739.1:c.4064_4065delAT NP_001394668.1:p.His1355Glnfs frameshift NM_001407740.1:c.4061_4062delAT NP_001394669.1:p.His1354Glnfs frameshift NM_001407741.1:c.4061_4062delAT NP_001394670.1:p.His1354Glnfs frameshift NM_001407742.1:c.4061_4062delAT NP_001394671.1:p.His1354Glnfs frameshift NM_001407743.1:c.4061_4062delAT NP_001394672.1:p.His1354Glnfs frameshift NM_001407744.1:c.4061_4062delAT NP_001394673.1:p.His1354Glnfs frameshift NM_001407745.1:c.4061_4062delAT NP_001394674.1:p.His1354Glnfs frameshift NM_001407746.1:c.4061_4062delAT NP_001394675.1:p.His1354Glnfs frameshift NM_001407747.1:c.4061_4062delAT NP_001394676.1:p.His1354Glnfs frameshift NM_001407748.1:c.4061_4062delAT NP_001394677.1:p.His1354Glnfs frameshift NM_001407749.1:c.4061_4062delAT NP_001394678.1:p.His1354Glnfs frameshift NM_001407750.1:c.4061_4062delAT NP_001394679.1:p.His1354Glnfs frameshift NM_001407751.1:c.4061_4062delAT NP_001394680.1:p.His1354Glnfs frameshift NM_001407752.1:c.4061_4062delAT NP_001394681.1:p.His1354Glnfs frameshift NM_001407838.1:c.4061_4062delAT NP_001394767.1:p.His1354Glnfs frameshift NM_001407839.1:c.4061_4062delAT NP_001394768.1:p.His1354Glnfs frameshift NM_001407841.1:c.4061_4062delAT NP_001394770.1:p.His1354Glnfs frameshift NM_001407842.1:c.4061_4062delAT NP_001394771.1:p.His1354Glnfs frameshift NM_001407843.1:c.4061_4062delAT NP_001394772.1:p.His1354Glnfs frameshift NM_001407844.1:c.4061_4062delAT NP_001394773.1:p.His1354Glnfs frameshift NM_001407845.1:c.4061_4062delAT NP_001394774.1:p.His1354Glnfs frameshift NM_001407846.1:c.4061_4062delAT NP_001394775.1:p.His1354Glnfs frameshift NM_001407847.1:c.4058_4059delAT NP_001394776.1:p.His1353Glnfs frameshift NM_001407848.1:c.4058_4059delAT NP_001394777.1:p.His1353Glnfs frameshift NM_001407849.1:c.4058_4059delAT NP_001394778.1:p.His1353Glnfs frameshift NM_001407850.1:c.4061_4062delAT NP_001394779.1:p.His1354Glnfs frameshift NM_001407851.1:c.4061_4062delAT NP_001394780.1:p.His1354Glnfs frameshift NM_001407852.1:c.4061_4062delAT NP_001394781.1:p.His1354Glnfs frameshift NM_001407853.1:c.3992_3993delAT NP_001394782.1:p.His1331Glnfs frameshift NM_001407854.1:c.4205_4206delAT NP_001394783.1:p.His1402Glnfs frameshift NM_001407858.1:c.4205_4206delAT NP_001394787.1:p.His1402Glnfs frameshift NM_001407859.1:c.4205_4206delAT NP_001394788.1:p.His1402Glnfs frameshift NM_001407860.1:c.4202_4203delAT NP_001394789.1:p.His1401Glnfs frameshift NM_001407861.1:c.4202_4203delAT NP_001394790.1:p.His1401Glnfs frameshift NM_001407862.1:c.4004_4005delAT NP_001394791.1:p.His1335Glnfs frameshift NM_001407863.1:c.4082_4083delAT NP_001394792.1:p.His1361Glnfs frameshift NM_001407874.1:c.4001_4002delAT NP_001394803.1:p.His1334Glnfs frameshift NM_001407875.1:c.4001_4002delAT NP_001394804.1:p.His1334Glnfs frameshift NM_001407879.1:c.3995_3996delAT NP_001394808.1:p.His1332Glnfs frameshift NM_001407881.1:c.3995_3996delAT NP_001394810.1:p.His1332Glnfs frameshift NM_001407882.1:c.3995_3996delAT NP_001394811.1:p.His1332Glnfs frameshift NM_001407884.1:c.3995_3996delAT NP_001394813.1:p.His1332Glnfs frameshift NM_001407885.1:c.3995_3996delAT NP_001394814.1:p.His1332Glnfs frameshift NM_001407886.1:c.3995_3996delAT NP_001394815.1:p.His1332Glnfs frameshift NM_001407887.1:c.3995_3996delAT NP_001394816.1:p.His1332Glnfs frameshift NM_001407889.1:c.3995_3996delAT NP_001394818.1:p.His1332Glnfs frameshift NM_001407894.1:c.3992_3993delAT NP_001394823.1:p.His1331Glnfs frameshift NM_001407895.1:c.3992_3993delAT NP_001394824.1:p.His1331Glnfs frameshift NM_001407896.1:c.3992_3993delAT NP_001394825.1:p.His1331Glnfs frameshift NM_001407897.1:c.3992_3993delAT NP_001394826.1:p.His1331Glnfs frameshift NM_001407898.1:c.3992_3993delAT NP_001394827.1:p.His1331Glnfs frameshift NM_001407899.1:c.3992_3993delAT NP_001394828.1:p.His1331Glnfs frameshift NM_001407900.1:c.3995_3996delAT NP_001394829.1:p.His1332Glnfs frameshift NM_001407902.1:c.3995_3996delAT NP_001394831.1:p.His1332Glnfs frameshift NM_001407904.1:c.3995_3996delAT NP_001394833.1:p.His1332Glnfs frameshift NM_001407906.1:c.3995_3996delAT NP_001394835.1:p.His1332Glnfs frameshift NM_001407907.1:c.3992_3993delAT NP_001394836.1:p.His1331Glnfs frameshift NM_001407908.1:c.3992_3993delAT NP_001394837.1:p.His1331Glnfs frameshift NM_001407909.1:c.3992_3993delAT NP_001394838.1:p.His1331Glnfs frameshift NM_001407910.1:c.3992_3993delAT NP_001394839.1:p.His1331Glnfs frameshift NM_001407915.1:c.3989_3990delAT NP_001394844.1:p.His1330Glnfs frameshift NM_001407916.1:c.3992_3993delAT NP_001394845.1:p.His1331Glnfs frameshift NM_001407917.1:c.3992_3993delAT NP_001394846.1:p.His1331Glnfs frameshift NM_001407918.1:c.3992_3993delAT NP_001394847.1:p.His1331Glnfs frameshift NM_001407919.1:c.4082_4083delAT NP_001394848.1:p.His1361Glnfs frameshift NM_001407920.1:c.3941_3942delAT NP_001394849.1:p.His1314Glnfs frameshift NM_001407921.1:c.3941_3942delAT NP_001394850.1:p.His1314Glnfs frameshift NM_001407922.1:c.3941_3942delAT NP_001394851.1:p.His1314Glnfs frameshift NM_001407923.1:c.3941_3942delAT NP_001394852.1:p.His1314Glnfs frameshift NM_001407924.1:c.3941_3942delAT NP_001394853.1:p.His1314Glnfs frameshift NM_001407925.1:c.3941_3942delAT NP_001394854.1:p.His1314Glnfs frameshift NM_001407926.1:c.3941_3942delAT NP_001394855.1:p.His1314Glnfs frameshift NM_001407927.1:c.3941_3942delAT NP_001394856.1:p.His1314Glnfs frameshift NM_001407928.1:c.3941_3942delAT NP_001394857.1:p.His1314Glnfs frameshift NM_001407929.1:c.3941_3942delAT NP_001394858.1:p.His1314Glnfs frameshift NM_001407930.1:c.3938_3939delAT NP_001394859.1:p.His1313Glnfs frameshift NM_001407931.1:c.3938_3939delAT NP_001394860.1:p.His1313Glnfs frameshift NM_001407932.1:c.3938_3939delAT NP_001394861.1:p.His1313Glnfs frameshift NM_001407933.1:c.3938_3939delAT NP_001394862.1:p.His1313Glnfs frameshift NM_001407934.1:c.3935_3936delAT NP_001394863.1:p.His1312Glnfs frameshift NM_001407935.1:c.3938_3939delAT NP_001394864.1:p.His1313Glnfs frameshift NM_001407936.1:c.3938_3939delAT NP_001394865.1:p.His1313Glnfs frameshift NM_001407937.1:c.4082_4083delAT NP_001394866.1:p.His1361Glnfs frameshift NM_001407938.1:c.4082_4083delAT NP_001394867.1:p.His1361Glnfs frameshift NM_001407939.1:c.4082_4083delAT NP_001394868.1:p.His1361Glnfs frameshift NM_001407940.1:c.4079_4080delAT NP_001394869.1:p.His1360Glnfs frameshift NM_001407941.1:c.4079_4080delAT NP_001394870.1:p.His1360Glnfs frameshift NM_001407942.1:c.4064_4065delAT NP_001394871.1:p.His1355Glnfs frameshift NM_001407943.1:c.4061_4062delAT NP_001394872.1:p.His1354Glnfs frameshift NM_001407944.1:c.4064_4065delAT NP_001394873.1:p.His1355Glnfs frameshift NM_001407945.1:c.4064_4065delAT NP_001394874.1:p.His1355Glnfs frameshift NM_001407946.1:c.3872_3873delAT NP_001394875.1:p.His1291Glnfs frameshift NM_001407947.1:c.3872_3873delAT NP_001394876.1:p.His1291Glnfs frameshift NM_001407948.1:c.3872_3873delAT NP_001394877.1:p.His1291Glnfs frameshift NM_001407949.1:c.3872_3873delAT NP_001394878.1:p.His1291Glnfs frameshift NM_001407950.1:c.3872_3873delAT NP_001394879.1:p.His1291Glnfs frameshift NM_001407951.1:c.3872_3873delAT NP_001394880.1:p.His1291Glnfs frameshift NM_001407952.1:c.3869_3870delAT NP_001394881.1:p.His1290Glnfs frameshift NM_001407953.1:c.3869_3870delAT NP_001394882.1:p.His1290Glnfs frameshift NM_001407954.1:c.3869_3870delAT NP_001394883.1:p.His1290Glnfs frameshift NM_001407955.1:c.3869_3870delAT NP_001394884.1:p.His1290Glnfs frameshift NM_001407956.1:c.3866_3867delAT NP_001394885.1:p.His1289Glnfs frameshift NM_001407957.1:c.3869_3870delAT NP_001394886.1:p.His1290Glnfs frameshift NM_001407958.1:c.3869_3870delAT NP_001394887.1:p.His1290Glnfs frameshift NM_001407959.1:c.3824_3825delAT NP_001394888.1:p.His1275Glnfs frameshift NM_001407960.1:c.3824_3825delAT NP_001394889.1:p.His1275Glnfs frameshift NM_001407962.1:c.3821_3822delAT NP_001394891.1:p.His1274Glnfs frameshift NM_001407963.1:c.3821_3822delAT NP_001394892.1:p.His1274Glnfs frameshift NM_001407964.1:c.4061_4062delAT NP_001394893.1:p.His1354Glnfs frameshift NM_001407965.1:c.3698_3699delAT NP_001394894.1:p.His1233Glnfs frameshift NM_001407966.1:c.3317_3318delAT NP_001394895.1:p.His1106Glnfs frameshift NM_001407967.1:c.3317_3318delAT NP_001394896.1:p.His1106Glnfs frameshift NM_001407968.1:c.1601_1602delAT NP_001394897.1:p.His534Glnfs frameshift NM_001407969.1:c.1598_1599delAT NP_001394898.1:p.His533Glnfs frameshift NM_001407970.1:c.896_897delAT NP_001394899.1:p.His299Glnfs frameshift NM_001407971.1:c.896_897delAT NP_001394900.1:p.His299Glnfs frameshift NM_001407972.1:c.893_894delAT NP_001394901.1:p.His298Glnfs frameshift NM_001407973.1:c.896_897delAT NP_001394902.1:p.His299Glnfs frameshift NM_001407974.1:c.896_897delAT NP_001394903.1:p.His299Glnfs frameshift NM_001407975.1:c.896_897delAT NP_001394904.1:p.His299Glnfs frameshift NM_001407976.1:c.896_897delAT NP_001394905.1:p.His299Glnfs frameshift NM_001407977.1:c.896_897delAT NP_001394906.1:p.His299Glnfs frameshift NM_001407978.1:c.896_897delAT NP_001394907.1:p.His299Glnfs frameshift NM_001407979.1:c.893_894delAT NP_001394908.1:p.His298Glnfs frameshift NM_001407980.1:c.893_894delAT NP_001394909.1:p.His298Glnfs frameshift NM_001407981.1:c.893_894delAT NP_001394910.1:p.His298Glnfs frameshift NM_001407982.1:c.893_894delAT NP_001394911.1:p.His298Glnfs frameshift NM_001407983.1:c.893_894delAT NP_001394912.1:p.His298Glnfs frameshift NM_001407984.1:c.893_894delAT NP_001394913.1:p.His298Glnfs frameshift NM_001407985.1:c.893_894delAT NP_001394914.1:p.His298Glnfs frameshift NM_001407986.1:c.893_894delAT NP_001394915.1:p.His298Glnfs frameshift NM_001407990.1:c.893_894delAT NP_001394919.1:p.His298Glnfs frameshift NM_001407991.1:c.893_894delAT NP_001394920.1:p.His298Glnfs frameshift NM_001407992.1:c.893_894delAT NP_001394921.1:p.His298Glnfs frameshift NM_001407993.1:c.896_897delAT NP_001394922.1:p.His299Glnfs frameshift NM_001408392.1:c.893_894delAT NP_001395321.1:p.His298Glnfs frameshift NM_001408396.1:c.893_894delAT NP_001395325.1:p.His298Glnfs frameshift NM_001408397.1:c.893_894delAT NP_001395326.1:p.His298Glnfs frameshift NM_001408398.1:c.893_894delAT NP_001395327.1:p.His298Glnfs frameshift NM_001408399.1:c.893_894delAT NP_001395328.1:p.His298Glnfs frameshift NM_001408400.1:c.890_891delAT NP_001395329.1:p.His297Glnfs frameshift NM_001408401.1:c.890_891delAT NP_001395330.1:p.His297Glnfs frameshift NM_001408402.1:c.890_891delAT NP_001395331.1:p.His297Glnfs frameshift NM_001408403.1:c.893_894delAT NP_001395332.1:p.His298Glnfs frameshift NM_001408404.1:c.893_894delAT NP_001395333.1:p.His298Glnfs frameshift NM_001408406.1:c.887_888delAT NP_001395335.1:p.His296Glnfs frameshift NM_001408407.1:c.890_891delAT NP_001395336.1:p.His297Glnfs frameshift NM_001408408.1:c.887_888delAT NP_001395337.1:p.His296Glnfs frameshift NM_001408409.1:c.818_819delAT NP_001395338.1:p.His273Glnfs frameshift NM_001408410.1:c.755_756delAT NP_001395339.1:p.His252Glnfs frameshift NM_001408411.1:c.818_819delAT NP_001395340.1:p.His273Glnfs frameshift NM_001408412.1:c.818_819delAT NP_001395341.1:p.His273Glnfs frameshift NM_001408413.1:c.815_816delAT NP_001395342.1:p.His272Glnfs frameshift NM_001408414.1:c.818_819delAT NP_001395343.1:p.His273Glnfs frameshift NM_001408415.1:c.818_819delAT NP_001395344.1:p.His273Glnfs frameshift NM_001408416.1:c.815_816delAT NP_001395345.1:p.His272Glnfs frameshift NM_001408418.1:c.779_780delAT NP_001395347.1:p.His260Glnfs frameshift NM_001408419.1:c.779_780delAT NP_001395348.1:p.His260Glnfs frameshift NM_001408420.1:c.779_780delAT NP_001395349.1:p.His260Glnfs frameshift NM_001408421.1:c.776_777delAT NP_001395350.1:p.His259Glnfs frameshift NM_001408422.1:c.779_780delAT NP_001395351.1:p.His260Glnfs frameshift NM_001408423.1:c.779_780delAT NP_001395352.1:p.His260Glnfs frameshift NM_001408424.1:c.776_777delAT NP_001395353.1:p.His259Glnfs frameshift NM_001408425.1:c.773_774delAT NP_001395354.1:p.His258Glnfs frameshift NM_001408426.1:c.773_774delAT NP_001395355.1:p.His258Glnfs frameshift NM_001408427.1:c.773_774delAT NP_001395356.1:p.His258Glnfs frameshift NM_001408428.1:c.773_774delAT NP_001395357.1:p.His258Glnfs frameshift NM_001408429.1:c.773_774delAT NP_001395358.1:p.His258Glnfs frameshift NM_001408430.1:c.773_774delAT NP_001395359.1:p.His258Glnfs frameshift NM_001408431.1:c.776_777delAT NP_001395360.1:p.His259Glnfs frameshift NM_001408432.1:c.770_771delAT NP_001395361.1:p.His257Glnfs frameshift NM_001408433.1:c.770_771delAT NP_001395362.1:p.His257Glnfs frameshift NM_001408434.1:c.770_771delAT NP_001395363.1:p.His257Glnfs frameshift NM_001408435.1:c.770_771delAT NP_001395364.1:p.His257Glnfs frameshift NM_001408436.1:c.773_774delAT NP_001395365.1:p.His258Glnfs frameshift NM_001408437.1:c.773_774delAT NP_001395366.1:p.His258Glnfs frameshift NM_001408438.1:c.773_774delAT NP_001395367.1:p.His258Glnfs frameshift NM_001408439.1:c.773_774delAT NP_001395368.1:p.His258Glnfs frameshift NM_001408440.1:c.773_774delAT NP_001395369.1:p.His258Glnfs frameshift NM_001408441.1:c.770_771delAT NP_001395370.1:p.His257Glnfs frameshift NM_001408442.1:c.770_771delAT NP_001395371.1:p.His257Glnfs frameshift NM_001408443.1:c.770_771delAT NP_001395372.1:p.His257Glnfs frameshift NM_001408444.1:c.770_771delAT NP_001395373.1:p.His257Glnfs frameshift NM_001408445.1:c.770_771delAT NP_001395374.1:p.His257Glnfs frameshift NM_001408446.1:c.770_771delAT NP_001395375.1:p.His257Glnfs frameshift NM_001408447.1:c.770_771delAT NP_001395376.1:p.His257Glnfs frameshift NM_001408448.1:c.770_771delAT NP_001395377.1:p.His257Glnfs frameshift NM_001408450.1:c.770_771delAT NP_001395379.1:p.His257Glnfs frameshift NM_001408451.1:c.761_762delAT NP_001395380.1:p.His254Glnfs frameshift NM_001408452.1:c.755_756delAT NP_001395381.1:p.His252Glnfs frameshift NM_001408453.1:c.755_756delAT NP_001395382.1:p.His252Glnfs frameshift NM_001408454.1:c.755_756delAT NP_001395383.1:p.His252Glnfs frameshift NM_001408455.1:c.755_756delAT NP_001395384.1:p.His252Glnfs frameshift NM_001408456.1:c.755_756delAT NP_001395385.1:p.His252Glnfs frameshift NM_001408457.1:c.755_756delAT NP_001395386.1:p.His252Glnfs frameshift NM_001408458.1:c.755_756delAT NP_001395387.1:p.His252Glnfs frameshift NM_001408459.1:c.755_756delAT NP_001395388.1:p.His252Glnfs frameshift NM_001408460.1:c.755_756delAT NP_001395389.1:p.His252Glnfs frameshift NM_001408461.1:c.755_756delAT NP_001395390.1:p.His252Glnfs frameshift NM_001408462.1:c.752_753delAT NP_001395391.1:p.His251Glnfs frameshift NM_001408463.1:c.752_753delAT NP_001395392.1:p.His251Glnfs frameshift NM_001408464.1:c.752_753delAT NP_001395393.1:p.His251Glnfs frameshift NM_001408465.1:c.752_753delAT NP_001395394.1:p.His251Glnfs frameshift NM_001408466.1:c.752_753delAT NP_001395395.1:p.His251Glnfs frameshift NM_001408467.1:c.752_753delAT NP_001395396.1:p.His251Glnfs frameshift NM_001408468.1:c.752_753delAT NP_001395397.1:p.His251Glnfs frameshift NM_001408469.1:c.752_753delAT NP_001395398.1:p.His251Glnfs frameshift NM_001408470.1:c.749_750delAT NP_001395399.1:p.His250Glnfs frameshift NM_001408472.1:c.893_894delAT NP_001395401.1:p.His298Glnfs frameshift NM_001408473.1:c.893_894delAT NP_001395402.1:p.His298Glnfs frameshift NM_001408474.1:c.695_696delAT NP_001395403.1:p.His232Glnfs frameshift NM_001408475.1:c.692_693delAT NP_001395404.1:p.His231Glnfs frameshift NM_001408476.1:c.695_696delAT NP_001395405.1:p.His232Glnfs frameshift NM_001408478.1:c.686_687delAT NP_001395407.1:p.His229Glnfs frameshift NM_001408479.1:c.686_687delAT NP_001395408.1:p.His229Glnfs frameshift NM_001408480.1:c.686_687delAT NP_001395409.1:p.His229Glnfs frameshift NM_001408481.1:c.686_687delAT NP_001395410.1:p.His229Glnfs frameshift NM_001408482.1:c.686_687delAT NP_001395411.1:p.His229Glnfs frameshift NM_001408483.1:c.686_687delAT NP_001395412.1:p.His229Glnfs frameshift NM_001408484.1:c.686_687delAT NP_001395413.1:p.His229Glnfs frameshift NM_001408485.1:c.686_687delAT NP_001395414.1:p.His229Glnfs frameshift NM_001408489.1:c.683_684delAT NP_001395418.1:p.His228Glnfs frameshift NM_001408490.1:c.683_684delAT NP_001395419.1:p.His228Glnfs frameshift NM_001408491.1:c.683_684delAT NP_001395420.1:p.His228Glnfs frameshift NM_001408492.1:c.683_684delAT NP_001395421.1:p.His228Glnfs frameshift NM_001408493.1:c.683_684delAT NP_001395422.1:p.His228Glnfs frameshift NM_001408494.1:c.656_657delAT NP_001395423.1:p.His219Glnfs frameshift NM_001408495.1:c.653_654delAT NP_001395424.1:p.His218Glnfs frameshift NM_001408496.1:c.632_633delAT NP_001395425.1:p.His211Glnfs frameshift NM_001408497.1:c.632_633delAT NP_001395426.1:p.His211Glnfs frameshift NM_001408498.1:c.632_633delAT NP_001395427.1:p.His211Glnfs frameshift NM_001408499.1:c.632_633delAT NP_001395428.1:p.His211Glnfs frameshift NM_001408500.1:c.632_633delAT NP_001395429.1:p.His211Glnfs frameshift NM_001408501.1:c.632_633delAT NP_001395430.1:p.His211Glnfs frameshift NM_001408502.1:c.563_564delAT NP_001395431.1:p.His188Glnfs frameshift NM_001408503.1:c.629_630delAT NP_001395432.1:p.His210Glnfs frameshift NM_001408504.1:c.629_630delAT NP_001395433.1:p.His210Glnfs frameshift NM_001408505.1:c.629_630delAT NP_001395434.1:p.His210Glnfs frameshift NM_001408506.1:c.569_570delAT NP_001395435.1:p.His190Glnfs frameshift NM_001408507.1:c.566_567delAT NP_001395436.1:p.His189Glnfs frameshift NM_001408508.1:c.557_558delAT NP_001395437.1:p.His186Glnfs frameshift NM_001408509.1:c.557_558delAT NP_001395438.1:p.His186Glnfs frameshift NM_001408510.1:c.515_516delAT NP_001395439.1:p.His172Glnfs frameshift NM_001408511.1:c.512_513delAT NP_001395440.1:p.His171Glnfs frameshift NM_001408512.1:c.392_393delAT NP_001395441.1:p.His131Glnfs frameshift NM_001408513.1:c.683_684delAT NP_001395442.1:p.His228Glnfs frameshift NM_001408514.1:c.686_687delAT NP_001395443.1:p.His229Glnfs frameshift NM_007294.3:c.4205_4206delAT NP_009225.1:p.His1402Glnfs frameshift NM_007297.4:c.4065_4066del NP_009228.2:p.His1355fs frameshift NM_007298.4:c.896_897delAT NP_009229.2:p.His299Glnfs frameshift NM_007299.4:c.897_898del NP_009230.2:p.His299fs frameshift NM_007300.4:c.4206_4207del NP_009231.2:p.His1402fs frameshift NM_007304.2:c.896_897delAT NP_009235.2:p.His299Glnfs frameshift NR_027676.2:n.4383_4384del non-coding transcript variant NC_000017.11:g.43082555_43082556del NC_000017.10:g.41234572_41234573del NG_005905.2:g.135429_135430del LRG_292:g.135429_135430del LRG_292t1:c.4206_4207del LRG_292p1:p.His1402fs - Protein change
- H1355fs, H1402fs, H299fs
- Other names
-
4325delTA
- Canonical SPDI
- NC_000017.11:43082553:TAT:T
-
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.
- -
- Links
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 |
13044 | 14850 | |
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. |
|---|---|---|---|---|
| Pathogenic (2) |
reviewed by expert panel
|
Oct 18, 2016 | RCV000256709.6 |
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
(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: SCV000323741.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
|
Pathogenic
(Oct 02, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000325896.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
Comment:
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. |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Citations for germline classification of this variant
Help| There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs886040215 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Oct 08, 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.