This sequence change creates a premature translational stop signal (p.Gln1401Profs*2) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. For these reasons, this variant has been classified as Pathogenic.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4202_4203del (p.Gln1401fs)
Germline
Classification
Help
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
(1)
Help
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Pathogenic
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.4202_4203del (p.Gln1401fs)
Variation ID: 2025101 Accession: VCV002025101.2
- Type and length
-
Deletion, 2 bp
- Location
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Cytogenetic: 17q21.31 17: 43082558-43082559 (GRCh38) [ NCBI UCSC ] 17: 41234575-41234576 (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 Feb 8, 2023 Feb 20, 2024 Aug 20, 2022 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4202_4203del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gln1401fs frameshift NM_001407571.1:c.3989_3990delAA NP_001394500.1:p.Gln1330Profs frameshift NM_001407581.1:c.4202_4203delAA NP_001394510.1:p.Gln1401Profs frameshift NM_001407582.1:c.4202_4203delAA NP_001394511.1:p.Gln1401Profs frameshift NM_001407583.1:c.4202_4203delAA NP_001394512.1:p.Gln1401Profs frameshift NM_001407585.1:c.4202_4203delAA NP_001394514.1:p.Gln1401Profs frameshift NM_001407587.1:c.4199_4200delAA NP_001394516.1:p.Gln1400Profs frameshift NM_001407590.1:c.4199_4200delAA NP_001394519.1:p.Gln1400Profs frameshift NM_001407591.1:c.4199_4200delAA NP_001394520.1:p.Gln1400Profs frameshift NM_001407593.1:c.4202_4203delAA NP_001394522.1:p.Gln1401Profs frameshift NM_001407594.1:c.4202_4203delAA NP_001394523.1:p.Gln1401Profs frameshift NM_001407596.1:c.4202_4203delAA NP_001394525.1:p.Gln1401Profs frameshift NM_001407597.1:c.4202_4203delAA NP_001394526.1:p.Gln1401Profs frameshift NM_001407598.1:c.4202_4203delAA NP_001394527.1:p.Gln1401Profs frameshift NM_001407602.1:c.4202_4203delAA NP_001394531.1:p.Gln1401Profs frameshift NM_001407603.1:c.4202_4203delAA NP_001394532.1:p.Gln1401Profs frameshift NM_001407605.1:c.4202_4203delAA NP_001394534.1:p.Gln1401Profs frameshift NM_001407610.1:c.4199_4200delAA NP_001394539.1:p.Gln1400Profs frameshift NM_001407611.1:c.4199_4200delAA NP_001394540.1:p.Gln1400Profs frameshift NM_001407612.1:c.4199_4200delAA NP_001394541.1:p.Gln1400Profs frameshift NM_001407613.1:c.4199_4200delAA NP_001394542.1:p.Gln1400Profs frameshift NM_001407614.1:c.4199_4200delAA NP_001394543.1:p.Gln1400Profs frameshift NM_001407615.1:c.4199_4200delAA NP_001394544.1:p.Gln1400Profs frameshift NM_001407616.1:c.4202_4203delAA NP_001394545.1:p.Gln1401Profs frameshift NM_001407617.1:c.4202_4203delAA NP_001394546.1:p.Gln1401Profs frameshift NM_001407618.1:c.4202_4203delAA NP_001394547.1:p.Gln1401Profs frameshift NM_001407619.1:c.4202_4203delAA NP_001394548.1:p.Gln1401Profs frameshift NM_001407620.1:c.4202_4203delAA NP_001394549.1:p.Gln1401Profs frameshift NM_001407621.1:c.4202_4203delAA NP_001394550.1:p.Gln1401Profs frameshift NM_001407622.1:c.4202_4203delAA NP_001394551.1:p.Gln1401Profs frameshift NM_001407623.1:c.4202_4203delAA NP_001394552.1:p.Gln1401Profs frameshift NM_001407624.1:c.4199_4200delAA NP_001394553.1:p.Gln1400Profs frameshift NM_001407625.1:c.4199_4200delAA NP_001394554.1:p.Gln1400Profs frameshift NM_001407626.1:c.4199_4200delAA NP_001394555.1:p.Gln1400Profs frameshift NM_001407627.1:c.4196_4197delAA NP_001394556.1:p.Gln1399Profs frameshift NM_001407628.1:c.4196_4197delAA NP_001394557.1:p.Gln1399Profs frameshift NM_001407629.1:c.4196_4197delAA NP_001394558.1:p.Gln1399Profs frameshift NM_001407630.1:c.4196_4197delAA NP_001394559.1:p.Gln1399Profs frameshift NM_001407631.1:c.4196_4197delAA NP_001394560.1:p.Gln1399Profs frameshift NM_001407632.1:c.4196_4197delAA NP_001394561.1:p.Gln1399Profs frameshift NM_001407633.1:c.4199_4200delAA NP_001394562.1:p.Gln1400Profs frameshift NM_001407634.1:c.4199_4200delAA NP_001394563.1:p.Gln1400Profs frameshift NM_001407635.1:c.4199_4200delAA NP_001394564.1:p.Gln1400Profs frameshift NM_001407636.1:c.4199_4200delAA NP_001394565.1:p.Gln1400Profs frameshift NM_001407637.1:c.4199_4200delAA NP_001394566.1:p.Gln1400Profs frameshift NM_001407638.1:c.4199_4200delAA NP_001394567.1:p.Gln1400Profs frameshift NM_001407639.1:c.4199_4200delAA NP_001394568.1:p.Gln1400Profs frameshift NM_001407640.1:c.4199_4200delAA NP_001394569.1:p.Gln1400Profs frameshift NM_001407641.1:c.4199_4200delAA NP_001394570.1:p.Gln1400Profs frameshift NM_001407642.1:c.4199_4200delAA NP_001394571.1:p.Gln1400Profs frameshift NM_001407644.1:c.4196_4197delAA NP_001394573.1:p.Gln1399Profs frameshift NM_001407645.1:c.4196_4197delAA NP_001394574.1:p.Gln1399Profs frameshift NM_001407646.1:c.4190_4191delAA NP_001394575.1:p.Gln1397Profs frameshift NM_001407647.1:c.4190_4191delAA NP_001394576.1:p.Gln1397Profs frameshift NM_001407648.1:c.4079_4080delAA NP_001394577.1:p.Gln1360Profs frameshift NM_001407649.1:c.4076_4077delAA NP_001394578.1:p.Gln1359Profs frameshift NM_001407652.1:c.4202_4203delAA NP_001394581.1:p.Gln1401Profs frameshift NM_001407653.1:c.4124_4125delAA NP_001394582.1:p.Gln1375Profs frameshift NM_001407654.1:c.4124_4125delAA NP_001394583.1:p.Gln1375Profs frameshift NM_001407655.1:c.4124_4125delAA NP_001394584.1:p.Gln1375Profs frameshift NM_001407656.1:c.4121_4122delAA NP_001394585.1:p.Gln1374Profs frameshift NM_001407657.1:c.4124_4125delAA NP_001394586.1:p.Gln1375Profs frameshift NM_001407658.1:c.4124_4125delAA NP_001394587.1:p.Gln1375Profs frameshift NM_001407659.1:c.4118_4119delAA NP_001394588.1:p.Gln1373Profs frameshift NM_001407660.1:c.4118_4119delAA NP_001394589.1:p.Gln1373Profs frameshift NM_001407661.1:c.4121_4122delAA NP_001394590.1:p.Gln1374Profs frameshift NM_001407662.1:c.4121_4122delAA NP_001394591.1:p.Gln1374Profs frameshift NM_001407663.1:c.4121_4122delAA NP_001394592.1:p.Gln1374Profs frameshift NM_001407664.1:c.4079_4080delAA NP_001394593.1:p.Gln1360Profs frameshift NM_001407665.1:c.4079_4080delAA NP_001394594.1:p.Gln1360Profs frameshift NM_001407666.1:c.4079_4080delAA NP_001394595.1:p.Gln1360Profs frameshift NM_001407667.1:c.4079_4080delAA NP_001394596.1:p.Gln1360Profs frameshift NM_001407668.1:c.4079_4080delAA NP_001394597.1:p.Gln1360Profs frameshift NM_001407669.1:c.4079_4080delAA NP_001394598.1:p.Gln1360Profs frameshift NM_001407670.1:c.4076_4077delAA NP_001394599.1:p.Gln1359Profs frameshift NM_001407671.1:c.4076_4077delAA NP_001394600.1:p.Gln1359Profs frameshift NM_001407672.1:c.4076_4077delAA NP_001394601.1:p.Gln1359Profs frameshift NM_001407673.1:c.4076_4077delAA NP_001394602.1:p.Gln1359Profs frameshift NM_001407674.1:c.4076_4077delAA NP_001394603.1:p.Gln1359Profs frameshift NM_001407675.1:c.4076_4077delAA NP_001394604.1:p.Gln1359Profs frameshift NM_001407676.1:c.4076_4077delAA NP_001394605.1:p.Gln1359Profs frameshift NM_001407677.1:c.4079_4080delAA NP_001394606.1:p.Gln1360Profs frameshift NM_001407678.1:c.4079_4080delAA NP_001394607.1:p.Gln1360Profs frameshift NM_001407679.1:c.4079_4080delAA NP_001394608.1:p.Gln1360Profs frameshift NM_001407680.1:c.4079_4080delAA NP_001394609.1:p.Gln1360Profs frameshift NM_001407681.1:c.4076_4077delAA NP_001394610.1:p.Gln1359Profs frameshift NM_001407682.1:c.4076_4077delAA NP_001394611.1:p.Gln1359Profs frameshift NM_001407683.1:c.4076_4077delAA NP_001394612.1:p.Gln1359Profs frameshift NM_001407684.1:c.4202_4203delAA NP_001394613.1:p.Gln1401Profs frameshift NM_001407685.1:c.4073_4074delAA NP_001394614.1:p.Gln1358Profs frameshift NM_001407686.1:c.4073_4074delAA NP_001394615.1:p.Gln1358Profs frameshift NM_001407687.1:c.4073_4074delAA NP_001394616.1:p.Gln1358Profs frameshift NM_001407688.1:c.4076_4077delAA NP_001394617.1:p.Gln1359Profs frameshift NM_001407689.1:c.4076_4077delAA NP_001394618.1:p.Gln1359Profs frameshift NM_001407690.1:c.4073_4074delAA NP_001394619.1:p.Gln1358Profs frameshift NM_001407691.1:c.4073_4074delAA NP_001394620.1:p.Gln1358Profs frameshift NM_001407692.1:c.4061_4062delAA NP_001394621.1:p.Gln1354Profs frameshift NM_001407694.1:c.4061_4062delAA NP_001394623.1:p.Gln1354Profs frameshift NM_001407695.1:c.4061_4062delAA NP_001394624.1:p.Gln1354Profs frameshift NM_001407696.1:c.4061_4062delAA NP_001394625.1:p.Gln1354Profs frameshift NM_001407697.1:c.4061_4062delAA NP_001394626.1:p.Gln1354Profs frameshift NM_001407698.1:c.4061_4062delAA NP_001394627.1:p.Gln1354Profs frameshift NM_001407724.1:c.4061_4062delAA NP_001394653.1:p.Gln1354Profs frameshift NM_001407725.1:c.4061_4062delAA NP_001394654.1:p.Gln1354Profs frameshift NM_001407726.1:c.4061_4062delAA NP_001394655.1:p.Gln1354Profs frameshift NM_001407727.1:c.4061_4062delAA NP_001394656.1:p.Gln1354Profs frameshift NM_001407728.1:c.4061_4062delAA NP_001394657.1:p.Gln1354Profs frameshift NM_001407729.1:c.4061_4062delAA NP_001394658.1:p.Gln1354Profs frameshift NM_001407730.1:c.4061_4062delAA NP_001394659.1:p.Gln1354Profs frameshift NM_001407731.1:c.4061_4062delAA NP_001394660.1:p.Gln1354Profs frameshift NM_001407732.1:c.4061_4062delAA NP_001394661.1:p.Gln1354Profs frameshift NM_001407733.1:c.4061_4062delAA NP_001394662.1:p.Gln1354Profs frameshift NM_001407734.1:c.4061_4062delAA NP_001394663.1:p.Gln1354Profs frameshift NM_001407735.1:c.4061_4062delAA NP_001394664.1:p.Gln1354Profs frameshift NM_001407736.1:c.4061_4062delAA NP_001394665.1:p.Gln1354Profs frameshift NM_001407737.1:c.4061_4062delAA NP_001394666.1:p.Gln1354Profs frameshift NM_001407738.1:c.4061_4062delAA NP_001394667.1:p.Gln1354Profs frameshift NM_001407739.1:c.4061_4062delAA NP_001394668.1:p.Gln1354Profs frameshift NM_001407740.1:c.4058_4059delAA NP_001394669.1:p.Gln1353Profs frameshift NM_001407741.1:c.4058_4059delAA NP_001394670.1:p.Gln1353Profs frameshift NM_001407742.1:c.4058_4059delAA NP_001394671.1:p.Gln1353Profs frameshift NM_001407743.1:c.4058_4059delAA NP_001394672.1:p.Gln1353Profs frameshift NM_001407744.1:c.4058_4059delAA NP_001394673.1:p.Gln1353Profs frameshift NM_001407745.1:c.4058_4059delAA NP_001394674.1:p.Gln1353Profs frameshift NM_001407746.1:c.4058_4059delAA NP_001394675.1:p.Gln1353Profs frameshift NM_001407747.1:c.4058_4059delAA NP_001394676.1:p.Gln1353Profs frameshift NM_001407748.1:c.4058_4059delAA NP_001394677.1:p.Gln1353Profs frameshift NM_001407749.1:c.4058_4059delAA NP_001394678.1:p.Gln1353Profs frameshift NM_001407750.1:c.4058_4059delAA NP_001394679.1:p.Gln1353Profs frameshift NM_001407751.1:c.4058_4059delAA NP_001394680.1:p.Gln1353Profs frameshift NM_001407752.1:c.4058_4059delAA NP_001394681.1:p.Gln1353Profs frameshift NM_001407838.1:c.4058_4059delAA NP_001394767.1:p.Gln1353Profs frameshift NM_001407839.1:c.4058_4059delAA NP_001394768.1:p.Gln1353Profs frameshift NM_001407841.1:c.4058_4059delAA NP_001394770.1:p.Gln1353Profs frameshift NM_001407842.1:c.4058_4059delAA NP_001394771.1:p.Gln1353Profs frameshift NM_001407843.1:c.4058_4059delAA NP_001394772.1:p.Gln1353Profs frameshift NM_001407844.1:c.4058_4059delAA NP_001394773.1:p.Gln1353Profs frameshift NM_001407845.1:c.4058_4059delAA NP_001394774.1:p.Gln1353Profs frameshift NM_001407846.1:c.4058_4059delAA NP_001394775.1:p.Gln1353Profs frameshift NM_001407847.1:c.4055_4056delAA NP_001394776.1:p.Gln1352Profs frameshift NM_001407848.1:c.4055_4056delAA NP_001394777.1:p.Gln1352Profs frameshift NM_001407849.1:c.4055_4056delAA NP_001394778.1:p.Gln1352Profs frameshift NM_001407850.1:c.4058_4059delAA NP_001394779.1:p.Gln1353Profs frameshift NM_001407851.1:c.4058_4059delAA NP_001394780.1:p.Gln1353Profs frameshift NM_001407852.1:c.4058_4059delAA NP_001394781.1:p.Gln1353Profs frameshift NM_001407853.1:c.3989_3990delAA NP_001394782.1:p.Gln1330Profs frameshift NM_001407854.1:c.4202_4203delAA NP_001394783.1:p.Gln1401Profs frameshift NM_001407858.1:c.4202_4203delAA NP_001394787.1:p.Gln1401Profs frameshift NM_001407859.1:c.4202_4203delAA NP_001394788.1:p.Gln1401Profs frameshift NM_001407860.1:c.4199_4200delAA NP_001394789.1:p.Gln1400Profs frameshift NM_001407861.1:c.4199_4200delAA NP_001394790.1:p.Gln1400Profs frameshift NM_001407862.1:c.4001_4002delAA NP_001394791.1:p.Gln1334Profs frameshift NM_001407863.1:c.4079_4080delAA NP_001394792.1:p.Gln1360Profs frameshift NM_001407874.1:c.3998_3999delAA NP_001394803.1:p.Gln1333Profs frameshift NM_001407875.1:c.3998_3999delAA NP_001394804.1:p.Gln1333Profs frameshift NM_001407879.1:c.3992_3993delAA NP_001394808.1:p.Gln1331Profs frameshift NM_001407881.1:c.3992_3993delAA NP_001394810.1:p.Gln1331Profs frameshift NM_001407882.1:c.3992_3993delAA NP_001394811.1:p.Gln1331Profs frameshift NM_001407884.1:c.3992_3993delAA NP_001394813.1:p.Gln1331Profs frameshift NM_001407885.1:c.3992_3993delAA NP_001394814.1:p.Gln1331Profs frameshift NM_001407886.1:c.3992_3993delAA NP_001394815.1:p.Gln1331Profs frameshift NM_001407887.1:c.3992_3993delAA NP_001394816.1:p.Gln1331Profs frameshift NM_001407889.1:c.3992_3993delAA NP_001394818.1:p.Gln1331Profs frameshift NM_001407894.1:c.3989_3990delAA NP_001394823.1:p.Gln1330Profs frameshift NM_001407895.1:c.3989_3990delAA NP_001394824.1:p.Gln1330Profs frameshift NM_001407896.1:c.3989_3990delAA NP_001394825.1:p.Gln1330Profs frameshift NM_001407897.1:c.3989_3990delAA NP_001394826.1:p.Gln1330Profs frameshift NM_001407898.1:c.3989_3990delAA NP_001394827.1:p.Gln1330Profs frameshift NM_001407899.1:c.3989_3990delAA NP_001394828.1:p.Gln1330Profs frameshift NM_001407900.1:c.3992_3993delAA NP_001394829.1:p.Gln1331Profs frameshift NM_001407902.1:c.3992_3993delAA NP_001394831.1:p.Gln1331Profs frameshift NM_001407904.1:c.3992_3993delAA NP_001394833.1:p.Gln1331Profs frameshift NM_001407906.1:c.3992_3993delAA NP_001394835.1:p.Gln1331Profs frameshift NM_001407907.1:c.3989_3990delAA NP_001394836.1:p.Gln1330Profs frameshift NM_001407908.1:c.3989_3990delAA NP_001394837.1:p.Gln1330Profs frameshift NM_001407909.1:c.3989_3990delAA NP_001394838.1:p.Gln1330Profs frameshift NM_001407910.1:c.3989_3990delAA NP_001394839.1:p.Gln1330Profs frameshift NM_001407915.1:c.3986_3987delAA NP_001394844.1:p.Gln1329Profs frameshift NM_001407916.1:c.3989_3990delAA NP_001394845.1:p.Gln1330Profs frameshift NM_001407917.1:c.3989_3990delAA NP_001394846.1:p.Gln1330Profs frameshift NM_001407918.1:c.3989_3990delAA NP_001394847.1:p.Gln1330Profs frameshift NM_001407919.1:c.4079_4080delAA NP_001394848.1:p.Gln1360Profs frameshift NM_001407920.1:c.3938_3939delAA NP_001394849.1:p.Gln1313Profs frameshift NM_001407921.1:c.3938_3939delAA NP_001394850.1:p.Gln1313Profs frameshift NM_001407922.1:c.3938_3939delAA NP_001394851.1:p.Gln1313Profs frameshift NM_001407923.1:c.3938_3939delAA NP_001394852.1:p.Gln1313Profs frameshift NM_001407924.1:c.3938_3939delAA NP_001394853.1:p.Gln1313Profs frameshift NM_001407925.1:c.3938_3939delAA NP_001394854.1:p.Gln1313Profs frameshift NM_001407926.1:c.3938_3939delAA NP_001394855.1:p.Gln1313Profs frameshift NM_001407927.1:c.3938_3939delAA NP_001394856.1:p.Gln1313Profs frameshift NM_001407928.1:c.3938_3939delAA NP_001394857.1:p.Gln1313Profs frameshift NM_001407929.1:c.3938_3939delAA NP_001394858.1:p.Gln1313Profs frameshift NM_001407930.1:c.3935_3936delAA NP_001394859.1:p.Gln1312Profs frameshift NM_001407931.1:c.3935_3936delAA NP_001394860.1:p.Gln1312Profs frameshift NM_001407932.1:c.3935_3936delAA NP_001394861.1:p.Gln1312Profs frameshift NM_001407933.1:c.3935_3936delAA NP_001394862.1:p.Gln1312Profs frameshift NM_001407934.1:c.3932_3933delAA NP_001394863.1:p.Gln1311Profs frameshift NM_001407935.1:c.3935_3936delAA NP_001394864.1:p.Gln1312Profs frameshift NM_001407936.1:c.3935_3936delAA NP_001394865.1:p.Gln1312Profs frameshift NM_001407937.1:c.4079_4080delAA NP_001394866.1:p.Gln1360Profs frameshift NM_001407938.1:c.4079_4080delAA NP_001394867.1:p.Gln1360Profs frameshift NM_001407939.1:c.4079_4080delAA NP_001394868.1:p.Gln1360Profs frameshift NM_001407940.1:c.4076_4077delAA NP_001394869.1:p.Gln1359Profs frameshift NM_001407941.1:c.4076_4077delAA NP_001394870.1:p.Gln1359Profs frameshift NM_001407942.1:c.4061_4062delAA NP_001394871.1:p.Gln1354Profs frameshift NM_001407943.1:c.4058_4059delAA NP_001394872.1:p.Gln1353Profs frameshift NM_001407944.1:c.4061_4062delAA NP_001394873.1:p.Gln1354Profs frameshift NM_001407945.1:c.4061_4062delAA NP_001394874.1:p.Gln1354Profs frameshift NM_001407946.1:c.3869_3870delAA NP_001394875.1:p.Gln1290Profs frameshift NM_001407947.1:c.3869_3870delAA NP_001394876.1:p.Gln1290Profs frameshift NM_001407948.1:c.3869_3870delAA NP_001394877.1:p.Gln1290Profs frameshift NM_001407949.1:c.3869_3870delAA NP_001394878.1:p.Gln1290Profs frameshift NM_001407950.1:c.3869_3870delAA NP_001394879.1:p.Gln1290Profs frameshift NM_001407951.1:c.3869_3870delAA NP_001394880.1:p.Gln1290Profs frameshift NM_001407952.1:c.3866_3867delAA NP_001394881.1:p.Gln1289Profs frameshift NM_001407953.1:c.3866_3867delAA NP_001394882.1:p.Gln1289Profs frameshift NM_001407954.1:c.3866_3867delAA NP_001394883.1:p.Gln1289Profs frameshift NM_001407955.1:c.3866_3867delAA NP_001394884.1:p.Gln1289Profs frameshift NM_001407956.1:c.3863_3864delAA NP_001394885.1:p.Gln1288Profs frameshift NM_001407957.1:c.3866_3867delAA NP_001394886.1:p.Gln1289Profs frameshift NM_001407958.1:c.3866_3867delAA NP_001394887.1:p.Gln1289Profs frameshift NM_001407959.1:c.3821_3822delAA NP_001394888.1:p.Gln1274Profs frameshift NM_001407960.1:c.3821_3822delAA NP_001394889.1:p.Gln1274Profs frameshift NM_001407962.1:c.3818_3819delAA NP_001394891.1:p.Gln1273Profs frameshift NM_001407963.1:c.3818_3819delAA NP_001394892.1:p.Gln1273Profs frameshift NM_001407964.1:c.4058_4059delAA NP_001394893.1:p.Gln1353Profs frameshift NM_001407965.1:c.3695_3696delAA NP_001394894.1:p.Gln1232Profs frameshift NM_001407966.1:c.3314_3315delAA NP_001394895.1:p.Gln1105Profs frameshift NM_001407967.1:c.3314_3315delAA NP_001394896.1:p.Gln1105Profs frameshift NM_001407968.1:c.1598_1599delAA NP_001394897.1:p.Gln533Profs frameshift NM_001407969.1:c.1595_1596delAA NP_001394898.1:p.Gln532Profs frameshift NM_001407970.1:c.893_894delAA NP_001394899.1:p.Gln298Profs frameshift NM_001407971.1:c.893_894delAA NP_001394900.1:p.Gln298Profs frameshift NM_001407972.1:c.890_891delAA NP_001394901.1:p.Gln297Profs frameshift NM_001407973.1:c.893_894delAA NP_001394902.1:p.Gln298Profs frameshift NM_001407974.1:c.893_894delAA NP_001394903.1:p.Gln298Profs frameshift NM_001407975.1:c.893_894delAA NP_001394904.1:p.Gln298Profs frameshift NM_001407976.1:c.893_894delAA NP_001394905.1:p.Gln298Profs frameshift NM_001407977.1:c.893_894delAA NP_001394906.1:p.Gln298Profs frameshift NM_001407978.1:c.893_894delAA NP_001394907.1:p.Gln298Profs frameshift NM_001407979.1:c.890_891delAA NP_001394908.1:p.Gln297Profs frameshift NM_001407980.1:c.890_891delAA NP_001394909.1:p.Gln297Profs frameshift NM_001407981.1:c.890_891delAA NP_001394910.1:p.Gln297Profs frameshift NM_001407982.1:c.890_891delAA NP_001394911.1:p.Gln297Profs frameshift NM_001407983.1:c.890_891delAA NP_001394912.1:p.Gln297Profs frameshift NM_001407984.1:c.890_891delAA NP_001394913.1:p.Gln297Profs frameshift NM_001407985.1:c.890_891delAA NP_001394914.1:p.Gln297Profs frameshift NM_001407986.1:c.890_891delAA NP_001394915.1:p.Gln297Profs frameshift NM_001407990.1:c.890_891delAA NP_001394919.1:p.Gln297Profs frameshift NM_001407991.1:c.890_891delAA NP_001394920.1:p.Gln297Profs frameshift NM_001407992.1:c.890_891delAA NP_001394921.1:p.Gln297Profs frameshift NM_001407993.1:c.893_894delAA NP_001394922.1:p.Gln298Profs frameshift NM_001408392.1:c.890_891delAA NP_001395321.1:p.Gln297Profs frameshift NM_001408396.1:c.890_891delAA NP_001395325.1:p.Gln297Profs frameshift NM_001408397.1:c.890_891delAA NP_001395326.1:p.Gln297Profs frameshift NM_001408398.1:c.890_891delAA NP_001395327.1:p.Gln297Profs frameshift NM_001408399.1:c.890_891delAA NP_001395328.1:p.Gln297Profs frameshift NM_001408400.1:c.887_888delAA NP_001395329.1:p.Gln296Profs frameshift NM_001408401.1:c.887_888delAA NP_001395330.1:p.Gln296Profs frameshift NM_001408402.1:c.887_888delAA NP_001395331.1:p.Gln296Profs frameshift NM_001408403.1:c.890_891delAA NP_001395332.1:p.Gln297Profs frameshift NM_001408404.1:c.890_891delAA NP_001395333.1:p.Gln297Profs frameshift NM_001408406.1:c.884_885delAA NP_001395335.1:p.Gln295Profs frameshift NM_001408407.1:c.887_888delAA NP_001395336.1:p.Gln296Profs frameshift NM_001408408.1:c.884_885delAA NP_001395337.1:p.Gln295Profs frameshift NM_001408409.1:c.815_816delAA NP_001395338.1:p.Gln272Profs frameshift NM_001408410.1:c.752_753delAA NP_001395339.1:p.Gln251Profs frameshift NM_001408411.1:c.815_816delAA NP_001395340.1:p.Gln272Profs frameshift NM_001408412.1:c.815_816delAA NP_001395341.1:p.Gln272Profs frameshift NM_001408413.1:c.812_813delAA NP_001395342.1:p.Gln271Profs frameshift NM_001408414.1:c.815_816delAA NP_001395343.1:p.Gln272Profs frameshift NM_001408415.1:c.815_816delAA NP_001395344.1:p.Gln272Profs frameshift NM_001408416.1:c.812_813delAA NP_001395345.1:p.Gln271Profs frameshift NM_001408418.1:c.776_777delAA NP_001395347.1:p.Gln259Profs frameshift NM_001408419.1:c.776_777delAA NP_001395348.1:p.Gln259Profs frameshift NM_001408420.1:c.776_777delAA NP_001395349.1:p.Gln259Profs frameshift NM_001408421.1:c.773_774delAA NP_001395350.1:p.Gln258Profs frameshift NM_001408422.1:c.776_777delAA NP_001395351.1:p.Gln259Profs frameshift NM_001408423.1:c.776_777delAA NP_001395352.1:p.Gln259Profs frameshift NM_001408424.1:c.773_774delAA NP_001395353.1:p.Gln258Profs frameshift NM_001408425.1:c.770_771delAA NP_001395354.1:p.Gln257Profs frameshift NM_001408426.1:c.770_771delAA NP_001395355.1:p.Gln257Profs frameshift NM_001408427.1:c.770_771delAA NP_001395356.1:p.Gln257Profs frameshift NM_001408428.1:c.770_771delAA NP_001395357.1:p.Gln257Profs frameshift NM_001408429.1:c.770_771delAA NP_001395358.1:p.Gln257Profs frameshift NM_001408430.1:c.770_771delAA NP_001395359.1:p.Gln257Profs frameshift NM_001408431.1:c.773_774delAA NP_001395360.1:p.Gln258Profs frameshift NM_001408432.1:c.767_768delAA NP_001395361.1:p.Gln256Profs frameshift NM_001408433.1:c.767_768delAA NP_001395362.1:p.Gln256Profs frameshift NM_001408434.1:c.767_768delAA NP_001395363.1:p.Gln256Profs frameshift NM_001408435.1:c.767_768delAA NP_001395364.1:p.Gln256Profs frameshift NM_001408436.1:c.770_771delAA NP_001395365.1:p.Gln257Profs frameshift NM_001408437.1:c.770_771delAA NP_001395366.1:p.Gln257Profs frameshift NM_001408438.1:c.770_771delAA NP_001395367.1:p.Gln257Profs frameshift NM_001408439.1:c.770_771delAA NP_001395368.1:p.Gln257Profs frameshift NM_001408440.1:c.770_771delAA NP_001395369.1:p.Gln257Profs frameshift NM_001408441.1:c.767_768delAA NP_001395370.1:p.Gln256Profs frameshift NM_001408442.1:c.767_768delAA NP_001395371.1:p.Gln256Profs frameshift NM_001408443.1:c.767_768delAA NP_001395372.1:p.Gln256Profs frameshift NM_001408444.1:c.767_768delAA NP_001395373.1:p.Gln256Profs frameshift NM_001408445.1:c.767_768delAA NP_001395374.1:p.Gln256Profs frameshift NM_001408446.1:c.767_768delAA NP_001395375.1:p.Gln256Profs frameshift NM_001408447.1:c.767_768delAA NP_001395376.1:p.Gln256Profs frameshift NM_001408448.1:c.767_768delAA NP_001395377.1:p.Gln256Profs frameshift NM_001408450.1:c.767_768delAA NP_001395379.1:p.Gln256Profs frameshift NM_001408451.1:c.758_759delAA NP_001395380.1:p.Gln253Profs frameshift NM_001408452.1:c.752_753delAA NP_001395381.1:p.Gln251Profs frameshift NM_001408453.1:c.752_753delAA NP_001395382.1:p.Gln251Profs frameshift NM_001408454.1:c.752_753delAA NP_001395383.1:p.Gln251Profs frameshift NM_001408455.1:c.752_753delAA NP_001395384.1:p.Gln251Profs frameshift NM_001408456.1:c.752_753delAA NP_001395385.1:p.Gln251Profs frameshift NM_001408457.1:c.752_753delAA NP_001395386.1:p.Gln251Profs frameshift NM_001408458.1:c.752_753delAA NP_001395387.1:p.Gln251Profs frameshift NM_001408459.1:c.752_753delAA NP_001395388.1:p.Gln251Profs frameshift NM_001408460.1:c.752_753delAA NP_001395389.1:p.Gln251Profs frameshift NM_001408461.1:c.752_753delAA NP_001395390.1:p.Gln251Profs frameshift NM_001408462.1:c.749_750delAA NP_001395391.1:p.Gln250Profs frameshift NM_001408463.1:c.749_750delAA NP_001395392.1:p.Gln250Profs frameshift NM_001408464.1:c.749_750delAA NP_001395393.1:p.Gln250Profs frameshift NM_001408465.1:c.749_750delAA NP_001395394.1:p.Gln250Profs frameshift NM_001408466.1:c.749_750delAA NP_001395395.1:p.Gln250Profs frameshift NM_001408467.1:c.749_750delAA NP_001395396.1:p.Gln250Profs frameshift NM_001408468.1:c.749_750delAA NP_001395397.1:p.Gln250Profs frameshift NM_001408469.1:c.749_750delAA NP_001395398.1:p.Gln250Profs frameshift NM_001408470.1:c.746_747delAA NP_001395399.1:p.Gln249Profs frameshift NM_001408472.1:c.890_891delAA NP_001395401.1:p.Gln297Profs frameshift NM_001408473.1:c.890_891delAA NP_001395402.1:p.Gln297Profs frameshift NM_001408474.1:c.692_693delAA NP_001395403.1:p.Gln231Profs frameshift NM_001408475.1:c.689_690delAA NP_001395404.1:p.Gln230Profs frameshift NM_001408476.1:c.692_693delAA NP_001395405.1:p.Gln231Profs frameshift NM_001408478.1:c.683_684delAA NP_001395407.1:p.Gln228Profs frameshift NM_001408479.1:c.683_684delAA NP_001395408.1:p.Gln228Profs frameshift NM_001408480.1:c.683_684delAA NP_001395409.1:p.Gln228Profs frameshift NM_001408481.1:c.683_684delAA NP_001395410.1:p.Gln228Profs frameshift NM_001408482.1:c.683_684delAA NP_001395411.1:p.Gln228Profs frameshift NM_001408483.1:c.683_684delAA NP_001395412.1:p.Gln228Profs frameshift NM_001408484.1:c.683_684delAA NP_001395413.1:p.Gln228Profs frameshift NM_001408485.1:c.683_684delAA NP_001395414.1:p.Gln228Profs frameshift NM_001408489.1:c.680_681delAA NP_001395418.1:p.Gln227Profs frameshift NM_001408490.1:c.680_681delAA NP_001395419.1:p.Gln227Profs frameshift NM_001408491.1:c.680_681delAA NP_001395420.1:p.Gln227Profs frameshift NM_001408492.1:c.680_681delAA NP_001395421.1:p.Gln227Profs frameshift NM_001408493.1:c.680_681delAA NP_001395422.1:p.Gln227Profs frameshift NM_001408494.1:c.653_654delAA NP_001395423.1:p.Gln218Profs frameshift NM_001408495.1:c.650_651delAA NP_001395424.1:p.Gln217Profs frameshift NM_001408496.1:c.629_630delAA NP_001395425.1:p.Gln210Profs frameshift NM_001408497.1:c.629_630delAA NP_001395426.1:p.Gln210Profs frameshift NM_001408498.1:c.629_630delAA NP_001395427.1:p.Gln210Profs frameshift NM_001408499.1:c.629_630delAA NP_001395428.1:p.Gln210Profs frameshift NM_001408500.1:c.629_630delAA NP_001395429.1:p.Gln210Profs frameshift NM_001408501.1:c.629_630delAA NP_001395430.1:p.Gln210Profs frameshift NM_001408502.1:c.560_561delAA NP_001395431.1:p.Gln187Profs frameshift NM_001408503.1:c.626_627delAA NP_001395432.1:p.Gln209Profs frameshift NM_001408504.1:c.626_627delAA NP_001395433.1:p.Gln209Profs frameshift NM_001408505.1:c.626_627delAA NP_001395434.1:p.Gln209Profs frameshift NM_001408506.1:c.566_567delAA NP_001395435.1:p.Gln189Profs frameshift NM_001408507.1:c.563_564delAA NP_001395436.1:p.Gln188Profs frameshift NM_001408508.1:c.554_555delAA NP_001395437.1:p.Gln185Profs frameshift NM_001408509.1:c.554_555delAA NP_001395438.1:p.Gln185Profs frameshift NM_001408510.1:c.512_513delAA NP_001395439.1:p.Gln171Profs frameshift NM_001408511.1:c.509_510delAA NP_001395440.1:p.Gln170Profs frameshift NM_001408512.1:c.389_390delAA NP_001395441.1:p.Gln130Profs frameshift NM_001408513.1:c.680_681delAA NP_001395442.1:p.Gln227Profs frameshift NM_001408514.1:c.683_684delAA NP_001395443.1:p.Gln228Profs frameshift NM_007297.4:c.4061_4062del NP_009228.2:p.Gln1354fs frameshift NM_007298.4:c.893_894delAA NP_009229.2:p.Gln298Profs frameshift NM_007299.4:c.893_894del NP_009230.2:p.Gln298fs frameshift NM_007300.4:c.4202_4203del NP_009231.2:p.Gln1401fs frameshift NM_007304.2:c.893_894delAA NP_009235.2:p.Gln298Profs frameshift NR_027676.2:n.4379_4380del non-coding transcript variant NC_000017.11:g.43082558_43082559del NC_000017.10:g.41234575_41234576del NG_005905.2:g.135425_135426del LRG_292:g.135425_135426del LRG_292t1:c.4202_4203del LRG_292p1:p.Gln1401Profs - Protein change
- Q1354fs, Q1401fs, Q298fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43082557:TT:
-
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 (1) |
criteria provided, single submitter
|
Aug 20, 2022 | RCV002848188.3 |
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
(Aug 20, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV003225779.2
First in ClinVar: Feb 07, 2023 Last updated: Feb 20, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Gln1401Profs*2) in the BRCA1 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Gln1401Profs*2) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. For these reasons, this variant has been classified as Pathogenic. (less)
|
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:
This sequence change creates a premature translational stop signal (p.Gln1401Profs*2) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. For these reasons, this variant has been classified as Pathogenic.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| 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 this variant ...
HelpRecord last updated Sep 29, 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.