This sequence change creates a premature translational stop signal (p.Glu1490Ilefs*17) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related conditions. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4463_4467dup (p.Glu1490fs)
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.4463_4467dup (p.Glu1490fs)
Variation ID: 1071944 Accession: VCV001071944.6
- Type and length
-
Duplication, 5 bp
- Location
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Cytogenetic: 17q21.31 17: 43076504-43076505 (GRCh38) [ NCBI UCSC ] 17: 41228521-41228522 (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 May 10, 2021 Feb 28, 2024 Jul 15, 2020 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4463_4467dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Glu1490fs frameshift NM_001407571.1:c.4247_4251dup NP_001394500.1:p.Glu1419Ilefs frameshift NM_001407581.1:c.4526_4530dup NP_001394510.1:p.Glu1512Ilefs frameshift NM_001407582.1:c.4526_4530dup NP_001394511.1:p.Glu1512Ilefs frameshift NM_001407583.1:c.4523_4527dup NP_001394512.1:p.Glu1511Ilefs frameshift NM_001407585.1:c.4523_4527dup NP_001394514.1:p.Glu1511Ilefs frameshift NM_001407587.1:c.4523_4527dup NP_001394516.1:p.Glu1511Ilefs frameshift NM_001407590.1:c.4520_4524dup NP_001394519.1:p.Glu1510Ilefs frameshift NM_001407591.1:c.4520_4524dup NP_001394520.1:p.Glu1510Ilefs frameshift NM_001407593.1:c.4460_4464dup NP_001394522.1:p.Glu1490Ilefs frameshift NM_001407594.1:c.4460_4464dup NP_001394523.1:p.Glu1490Ilefs frameshift NM_001407596.1:c.4460_4464dup NP_001394525.1:p.Glu1490Ilefs frameshift NM_001407597.1:c.4460_4464dup NP_001394526.1:p.Glu1490Ilefs frameshift NM_001407598.1:c.4460_4464dup NP_001394527.1:p.Glu1490Ilefs frameshift NM_001407602.1:c.4460_4464dup NP_001394531.1:p.Glu1490Ilefs frameshift NM_001407603.1:c.4460_4464dup NP_001394532.1:p.Glu1490Ilefs frameshift NM_001407605.1:c.4460_4464dup NP_001394534.1:p.Glu1490Ilefs frameshift NM_001407610.1:c.4457_4461dup NP_001394539.1:p.Glu1489Ilefs frameshift NM_001407611.1:c.4457_4461dup NP_001394540.1:p.Glu1489Ilefs frameshift NM_001407612.1:c.4457_4461dup NP_001394541.1:p.Glu1489Ilefs frameshift NM_001407613.1:c.4457_4461dup NP_001394542.1:p.Glu1489Ilefs frameshift NM_001407614.1:c.4457_4461dup NP_001394543.1:p.Glu1489Ilefs frameshift NM_001407615.1:c.4457_4461dup NP_001394544.1:p.Glu1489Ilefs frameshift NM_001407616.1:c.4457_4461dup NP_001394545.1:p.Glu1489Ilefs frameshift NM_001407617.1:c.4457_4461dup NP_001394546.1:p.Glu1489Ilefs frameshift NM_001407618.1:c.4457_4461dup NP_001394547.1:p.Glu1489Ilefs frameshift NM_001407619.1:c.4457_4461dup NP_001394548.1:p.Glu1489Ilefs frameshift NM_001407620.1:c.4457_4461dup NP_001394549.1:p.Glu1489Ilefs frameshift NM_001407621.1:c.4457_4461dup NP_001394550.1:p.Glu1489Ilefs frameshift NM_001407622.1:c.4457_4461dup NP_001394551.1:p.Glu1489Ilefs frameshift NM_001407623.1:c.4457_4461dup NP_001394552.1:p.Glu1489Ilefs frameshift NM_001407624.1:c.4457_4461dup NP_001394553.1:p.Glu1489Ilefs frameshift NM_001407625.1:c.4457_4461dup NP_001394554.1:p.Glu1489Ilefs frameshift NM_001407626.1:c.4457_4461dup NP_001394555.1:p.Glu1489Ilefs frameshift NM_001407627.1:c.4454_4458dup NP_001394556.1:p.Glu1488Ilefs frameshift NM_001407628.1:c.4454_4458dup NP_001394557.1:p.Glu1488Ilefs frameshift NM_001407629.1:c.4454_4458dup NP_001394558.1:p.Glu1488Ilefs frameshift NM_001407630.1:c.4454_4458dup NP_001394559.1:p.Glu1488Ilefs frameshift NM_001407631.1:c.4454_4458dup NP_001394560.1:p.Glu1488Ilefs frameshift NM_001407632.1:c.4454_4458dup NP_001394561.1:p.Glu1488Ilefs frameshift NM_001407633.1:c.4454_4458dup NP_001394562.1:p.Glu1488Ilefs frameshift NM_001407634.1:c.4454_4458dup NP_001394563.1:p.Glu1488Ilefs frameshift NM_001407635.1:c.4454_4458dup NP_001394564.1:p.Glu1488Ilefs frameshift NM_001407636.1:c.4454_4458dup NP_001394565.1:p.Glu1488Ilefs frameshift NM_001407637.1:c.4454_4458dup NP_001394566.1:p.Glu1488Ilefs frameshift NM_001407638.1:c.4454_4458dup NP_001394567.1:p.Glu1488Ilefs frameshift NM_001407639.1:c.4454_4458dup NP_001394568.1:p.Glu1488Ilefs frameshift NM_001407640.1:c.4454_4458dup NP_001394569.1:p.Glu1488Ilefs frameshift NM_001407641.1:c.4454_4458dup NP_001394570.1:p.Glu1488Ilefs frameshift NM_001407642.1:c.4454_4458dup NP_001394571.1:p.Glu1488Ilefs frameshift NM_001407644.1:c.4451_4455dup NP_001394573.1:p.Glu1487Ilefs frameshift NM_001407645.1:c.4451_4455dup NP_001394574.1:p.Glu1487Ilefs frameshift NM_001407646.1:c.4448_4452dup NP_001394575.1:p.Glu1486Ilefs frameshift NM_001407647.1:c.4445_4449dup NP_001394576.1:p.Glu1485Ilefs frameshift NM_001407648.1:c.4403_4407dup NP_001394577.1:p.Glu1471Ilefs frameshift NM_001407649.1:c.4400_4404dup NP_001394578.1:p.Glu1470Ilefs frameshift NM_001407652.1:c.4460_4464dup NP_001394581.1:p.Glu1490Ilefs frameshift NM_001407653.1:c.4382_4386dup NP_001394582.1:p.Glu1464Ilefs frameshift NM_001407654.1:c.4382_4386dup NP_001394583.1:p.Glu1464Ilefs frameshift NM_001407655.1:c.4382_4386dup NP_001394584.1:p.Glu1464Ilefs frameshift NM_001407656.1:c.4379_4383dup NP_001394585.1:p.Glu1463Ilefs frameshift NM_001407657.1:c.4379_4383dup NP_001394586.1:p.Glu1463Ilefs frameshift NM_001407658.1:c.4379_4383dup NP_001394587.1:p.Glu1463Ilefs frameshift NM_001407659.1:c.4376_4380dup NP_001394588.1:p.Glu1462Ilefs frameshift NM_001407660.1:c.4376_4380dup NP_001394589.1:p.Glu1462Ilefs frameshift NM_001407661.1:c.4376_4380dup NP_001394590.1:p.Glu1462Ilefs frameshift NM_001407662.1:c.4376_4380dup NP_001394591.1:p.Glu1462Ilefs frameshift NM_001407663.1:c.4376_4380dup NP_001394592.1:p.Glu1462Ilefs frameshift NM_001407664.1:c.4337_4341dup NP_001394593.1:p.Glu1449Ilefs frameshift NM_001407665.1:c.4337_4341dup NP_001394594.1:p.Glu1449Ilefs frameshift NM_001407666.1:c.4337_4341dup NP_001394595.1:p.Glu1449Ilefs frameshift NM_001407667.1:c.4337_4341dup NP_001394596.1:p.Glu1449Ilefs frameshift NM_001407668.1:c.4337_4341dup NP_001394597.1:p.Glu1449Ilefs frameshift NM_001407669.1:c.4337_4341dup NP_001394598.1:p.Glu1449Ilefs frameshift NM_001407670.1:c.4334_4338dup NP_001394599.1:p.Glu1448Ilefs frameshift NM_001407671.1:c.4334_4338dup NP_001394600.1:p.Glu1448Ilefs frameshift NM_001407672.1:c.4334_4338dup NP_001394601.1:p.Glu1448Ilefs frameshift NM_001407673.1:c.4334_4338dup NP_001394602.1:p.Glu1448Ilefs frameshift NM_001407674.1:c.4334_4338dup NP_001394603.1:p.Glu1448Ilefs frameshift NM_001407675.1:c.4334_4338dup NP_001394604.1:p.Glu1448Ilefs frameshift NM_001407676.1:c.4334_4338dup NP_001394605.1:p.Glu1448Ilefs frameshift NM_001407677.1:c.4334_4338dup NP_001394606.1:p.Glu1448Ilefs frameshift NM_001407678.1:c.4334_4338dup NP_001394607.1:p.Glu1448Ilefs frameshift NM_001407679.1:c.4334_4338dup NP_001394608.1:p.Glu1448Ilefs frameshift NM_001407680.1:c.4334_4338dup NP_001394609.1:p.Glu1448Ilefs frameshift NM_001407681.1:c.4331_4335dup NP_001394610.1:p.Glu1447Ilefs frameshift NM_001407682.1:c.4331_4335dup NP_001394611.1:p.Glu1447Ilefs frameshift NM_001407683.1:c.4331_4335dup NP_001394612.1:p.Glu1447Ilefs frameshift NM_001407684.1:c.4460_4464dup NP_001394613.1:p.Glu1490Ilefs frameshift NM_001407685.1:c.4331_4335dup NP_001394614.1:p.Glu1447Ilefs frameshift NM_001407686.1:c.4331_4335dup NP_001394615.1:p.Glu1447Ilefs frameshift NM_001407687.1:c.4331_4335dup NP_001394616.1:p.Glu1447Ilefs frameshift NM_001407688.1:c.4331_4335dup NP_001394617.1:p.Glu1447Ilefs frameshift NM_001407689.1:c.4331_4335dup NP_001394618.1:p.Glu1447Ilefs frameshift NM_001407690.1:c.4328_4332dup NP_001394619.1:p.Glu1446Ilefs frameshift NM_001407691.1:c.4328_4332dup NP_001394620.1:p.Glu1446Ilefs frameshift NM_001407692.1:c.4319_4323dup NP_001394621.1:p.Glu1443Ilefs frameshift NM_001407694.1:c.4319_4323dup NP_001394623.1:p.Glu1443Ilefs frameshift NM_001407695.1:c.4319_4323dup NP_001394624.1:p.Glu1443Ilefs frameshift NM_001407696.1:c.4319_4323dup NP_001394625.1:p.Glu1443Ilefs frameshift NM_001407697.1:c.4319_4323dup NP_001394626.1:p.Glu1443Ilefs frameshift NM_001407698.1:c.4319_4323dup NP_001394627.1:p.Glu1443Ilefs frameshift NM_001407724.1:c.4319_4323dup NP_001394653.1:p.Glu1443Ilefs frameshift NM_001407725.1:c.4319_4323dup NP_001394654.1:p.Glu1443Ilefs frameshift NM_001407726.1:c.4319_4323dup NP_001394655.1:p.Glu1443Ilefs frameshift NM_001407727.1:c.4319_4323dup NP_001394656.1:p.Glu1443Ilefs frameshift NM_001407728.1:c.4319_4323dup NP_001394657.1:p.Glu1443Ilefs frameshift NM_001407729.1:c.4319_4323dup NP_001394658.1:p.Glu1443Ilefs frameshift NM_001407730.1:c.4319_4323dup NP_001394659.1:p.Glu1443Ilefs frameshift NM_001407731.1:c.4319_4323dup NP_001394660.1:p.Glu1443Ilefs frameshift NM_001407732.1:c.4316_4320dup NP_001394661.1:p.Glu1442Ilefs frameshift NM_001407733.1:c.4316_4320dup NP_001394662.1:p.Glu1442Ilefs frameshift NM_001407734.1:c.4316_4320dup NP_001394663.1:p.Glu1442Ilefs frameshift NM_001407735.1:c.4316_4320dup NP_001394664.1:p.Glu1442Ilefs frameshift NM_001407736.1:c.4316_4320dup NP_001394665.1:p.Glu1442Ilefs frameshift NM_001407737.1:c.4316_4320dup NP_001394666.1:p.Glu1442Ilefs frameshift NM_001407738.1:c.4316_4320dup NP_001394667.1:p.Glu1442Ilefs frameshift NM_001407739.1:c.4316_4320dup NP_001394668.1:p.Glu1442Ilefs frameshift NM_001407740.1:c.4316_4320dup NP_001394669.1:p.Glu1442Ilefs frameshift NM_001407741.1:c.4316_4320dup NP_001394670.1:p.Glu1442Ilefs frameshift NM_001407742.1:c.4316_4320dup NP_001394671.1:p.Glu1442Ilefs frameshift NM_001407743.1:c.4316_4320dup NP_001394672.1:p.Glu1442Ilefs frameshift NM_001407744.1:c.4316_4320dup NP_001394673.1:p.Glu1442Ilefs frameshift NM_001407745.1:c.4316_4320dup NP_001394674.1:p.Glu1442Ilefs frameshift NM_001407746.1:c.4316_4320dup NP_001394675.1:p.Glu1442Ilefs frameshift NM_001407747.1:c.4316_4320dup NP_001394676.1:p.Glu1442Ilefs frameshift NM_001407748.1:c.4316_4320dup NP_001394677.1:p.Glu1442Ilefs frameshift NM_001407749.1:c.4316_4320dup NP_001394678.1:p.Glu1442Ilefs frameshift NM_001407750.1:c.4316_4320dup NP_001394679.1:p.Glu1442Ilefs frameshift NM_001407751.1:c.4316_4320dup NP_001394680.1:p.Glu1442Ilefs frameshift NM_001407752.1:c.4316_4320dup NP_001394681.1:p.Glu1442Ilefs frameshift NM_001407838.1:c.4313_4317dup NP_001394767.1:p.Glu1441Ilefs frameshift NM_001407839.1:c.4313_4317dup NP_001394768.1:p.Glu1441Ilefs frameshift NM_001407841.1:c.4313_4317dup NP_001394770.1:p.Glu1441Ilefs frameshift NM_001407842.1:c.4313_4317dup NP_001394771.1:p.Glu1441Ilefs frameshift NM_001407843.1:c.4313_4317dup NP_001394772.1:p.Glu1441Ilefs frameshift NM_001407844.1:c.4313_4317dup NP_001394773.1:p.Glu1441Ilefs frameshift NM_001407845.1:c.4313_4317dup NP_001394774.1:p.Glu1441Ilefs frameshift NM_001407846.1:c.4313_4317dup NP_001394775.1:p.Glu1441Ilefs frameshift NM_001407847.1:c.4313_4317dup NP_001394776.1:p.Glu1441Ilefs frameshift NM_001407848.1:c.4313_4317dup NP_001394777.1:p.Glu1441Ilefs frameshift NM_001407849.1:c.4313_4317dup NP_001394778.1:p.Glu1441Ilefs frameshift NM_001407850.1:c.4313_4317dup NP_001394779.1:p.Glu1441Ilefs frameshift NM_001407851.1:c.4313_4317dup NP_001394780.1:p.Glu1441Ilefs frameshift NM_001407852.1:c.4313_4317dup NP_001394781.1:p.Glu1441Ilefs frameshift NM_001407853.1:c.4313_4317dup NP_001394782.1:p.Glu1441Ilefs frameshift NM_001407854.1:c.4460_4464dup NP_001394783.1:p.Glu1490Ilefs frameshift NM_001407858.1:c.4457_4461dup NP_001394787.1:p.Glu1489Ilefs frameshift NM_001407859.1:c.4457_4461dup NP_001394788.1:p.Glu1489Ilefs frameshift NM_001407860.1:c.4457_4461dup NP_001394789.1:p.Glu1489Ilefs frameshift NM_001407861.1:c.4454_4458dup NP_001394790.1:p.Glu1488Ilefs frameshift NM_001407862.1:c.4259_4263dup NP_001394791.1:p.Glu1423Ilefs frameshift NM_001407863.1:c.4334_4338dup NP_001394792.1:p.Glu1448Ilefs frameshift NM_001407874.1:c.4253_4257dup NP_001394803.1:p.Glu1421Ilefs frameshift NM_001407875.1:c.4253_4257dup NP_001394804.1:p.Glu1421Ilefs frameshift NM_001407879.1:c.4250_4254dup NP_001394808.1:p.Glu1420Ilefs frameshift NM_001407881.1:c.4250_4254dup NP_001394810.1:p.Glu1420Ilefs frameshift NM_001407882.1:c.4250_4254dup NP_001394811.1:p.Glu1420Ilefs frameshift NM_001407884.1:c.4250_4254dup NP_001394813.1:p.Glu1420Ilefs frameshift NM_001407885.1:c.4250_4254dup NP_001394814.1:p.Glu1420Ilefs frameshift NM_001407886.1:c.4250_4254dup NP_001394815.1:p.Glu1420Ilefs frameshift NM_001407887.1:c.4250_4254dup NP_001394816.1:p.Glu1420Ilefs frameshift NM_001407889.1:c.4250_4254dup NP_001394818.1:p.Glu1420Ilefs frameshift NM_001407894.1:c.4247_4251dup NP_001394823.1:p.Glu1419Ilefs frameshift NM_001407895.1:c.4247_4251dup NP_001394824.1:p.Glu1419Ilefs frameshift NM_001407896.1:c.4247_4251dup NP_001394825.1:p.Glu1419Ilefs frameshift NM_001407897.1:c.4247_4251dup NP_001394826.1:p.Glu1419Ilefs frameshift NM_001407898.1:c.4247_4251dup NP_001394827.1:p.Glu1419Ilefs frameshift NM_001407899.1:c.4247_4251dup NP_001394828.1:p.Glu1419Ilefs frameshift NM_001407900.1:c.4247_4251dup NP_001394829.1:p.Glu1419Ilefs frameshift NM_001407902.1:c.4247_4251dup NP_001394831.1:p.Glu1419Ilefs frameshift NM_001407904.1:c.4247_4251dup NP_001394833.1:p.Glu1419Ilefs frameshift NM_001407906.1:c.4247_4251dup NP_001394835.1:p.Glu1419Ilefs frameshift NM_001407907.1:c.4247_4251dup NP_001394836.1:p.Glu1419Ilefs frameshift NM_001407908.1:c.4247_4251dup NP_001394837.1:p.Glu1419Ilefs frameshift NM_001407909.1:c.4247_4251dup NP_001394838.1:p.Glu1419Ilefs frameshift NM_001407910.1:c.4247_4251dup NP_001394839.1:p.Glu1419Ilefs frameshift NM_001407915.1:c.4244_4248dup NP_001394844.1:p.Glu1418Ilefs frameshift NM_001407916.1:c.4244_4248dup NP_001394845.1:p.Glu1418Ilefs frameshift NM_001407917.1:c.4244_4248dup NP_001394846.1:p.Glu1418Ilefs frameshift NM_001407918.1:c.4244_4248dup NP_001394847.1:p.Glu1418Ilefs frameshift NM_001407919.1:c.4337_4341dup NP_001394848.1:p.Glu1449Ilefs frameshift NM_001407920.1:c.4196_4200dup NP_001394849.1:p.Glu1402Ilefs frameshift NM_001407921.1:c.4196_4200dup NP_001394850.1:p.Glu1402Ilefs frameshift NM_001407922.1:c.4196_4200dup NP_001394851.1:p.Glu1402Ilefs frameshift NM_001407923.1:c.4196_4200dup NP_001394852.1:p.Glu1402Ilefs frameshift NM_001407924.1:c.4196_4200dup NP_001394853.1:p.Glu1402Ilefs frameshift NM_001407925.1:c.4196_4200dup NP_001394854.1:p.Glu1402Ilefs frameshift NM_001407926.1:c.4196_4200dup NP_001394855.1:p.Glu1402Ilefs frameshift NM_001407927.1:c.4193_4197dup NP_001394856.1:p.Glu1401Ilefs frameshift NM_001407928.1:c.4193_4197dup NP_001394857.1:p.Glu1401Ilefs frameshift NM_001407929.1:c.4193_4197dup NP_001394858.1:p.Glu1401Ilefs frameshift NM_001407930.1:c.4193_4197dup NP_001394859.1:p.Glu1401Ilefs frameshift NM_001407931.1:c.4193_4197dup NP_001394860.1:p.Glu1401Ilefs frameshift NM_001407932.1:c.4193_4197dup NP_001394861.1:p.Glu1401Ilefs frameshift NM_001407933.1:c.4193_4197dup NP_001394862.1:p.Glu1401Ilefs frameshift NM_001407934.1:c.4190_4194dup NP_001394863.1:p.Glu1400Ilefs frameshift NM_001407935.1:c.4190_4194dup NP_001394864.1:p.Glu1400Ilefs frameshift NM_001407936.1:c.4190_4194dup NP_001394865.1:p.Glu1400Ilefs frameshift NM_001407937.1:c.4337_4341dup NP_001394866.1:p.Glu1449Ilefs frameshift NM_001407938.1:c.4337_4341dup NP_001394867.1:p.Glu1449Ilefs frameshift NM_001407939.1:c.4334_4338dup NP_001394868.1:p.Glu1448Ilefs frameshift NM_001407940.1:c.4334_4338dup NP_001394869.1:p.Glu1448Ilefs frameshift NM_001407941.1:c.4331_4335dup NP_001394870.1:p.Glu1447Ilefs frameshift NM_001407942.1:c.4319_4323dup NP_001394871.1:p.Glu1443Ilefs frameshift NM_001407943.1:c.4316_4320dup NP_001394872.1:p.Glu1442Ilefs frameshift NM_001407944.1:c.4316_4320dup NP_001394873.1:p.Glu1442Ilefs frameshift NM_001407945.1:c.4316_4320dup NP_001394874.1:p.Glu1442Ilefs frameshift NM_001407946.1:c.4127_4131dup NP_001394875.1:p.Glu1379Ilefs frameshift NM_001407947.1:c.4127_4131dup NP_001394876.1:p.Glu1379Ilefs frameshift NM_001407948.1:c.4127_4131dup NP_001394877.1:p.Glu1379Ilefs frameshift NM_001407949.1:c.4127_4131dup NP_001394878.1:p.Glu1379Ilefs frameshift NM_001407950.1:c.4124_4128dup NP_001394879.1:p.Glu1378Ilefs frameshift NM_001407951.1:c.4124_4128dup NP_001394880.1:p.Glu1378Ilefs frameshift NM_001407952.1:c.4124_4128dup NP_001394881.1:p.Glu1378Ilefs frameshift NM_001407953.1:c.4124_4128dup NP_001394882.1:p.Glu1378Ilefs frameshift NM_001407954.1:c.4124_4128dup NP_001394883.1:p.Glu1378Ilefs frameshift NM_001407955.1:c.4124_4128dup NP_001394884.1:p.Glu1378Ilefs frameshift NM_001407956.1:c.4121_4125dup NP_001394885.1:p.Glu1377Ilefs frameshift NM_001407957.1:c.4121_4125dup NP_001394886.1:p.Glu1377Ilefs frameshift NM_001407958.1:c.4121_4125dup NP_001394887.1:p.Glu1377Ilefs frameshift NM_001407959.1:c.4079_4083dup NP_001394888.1:p.Glu1363Ilefs frameshift NM_001407960.1:c.4076_4080dup NP_001394889.1:p.Glu1362Ilefs frameshift NM_001407962.1:c.4076_4080dup NP_001394891.1:p.Glu1362Ilefs frameshift NM_001407963.1:c.4073_4077dup NP_001394892.1:p.Glu1361Ilefs frameshift NM_001407965.1:c.3953_3957dup NP_001394894.1:p.Glu1321Ilefs frameshift NM_001407966.1:c.3572_3576dup NP_001394895.1:p.Glu1194Ilefs frameshift NM_001407967.1:c.3569_3573dup NP_001394896.1:p.Glu1193Ilefs frameshift NM_001407968.1:c.1856_1860dup NP_001394897.1:p.Glu622Ilefs frameshift NM_001407969.1:c.1853_1857dup NP_001394898.1:p.Glu621Ilefs frameshift NM_001407970.1:c.1217_1221dup NP_001394899.1:p.Glu409Ilefs frameshift NM_001407971.1:c.1217_1221dup NP_001394900.1:p.Glu409Ilefs frameshift NM_001407972.1:c.1214_1218dup NP_001394901.1:p.Glu408Ilefs frameshift NM_001407973.1:c.1151_1155dup NP_001394902.1:p.Glu387Ilefs frameshift NM_001407974.1:c.1151_1155dup NP_001394903.1:p.Glu387Ilefs frameshift NM_001407975.1:c.1151_1155dup NP_001394904.1:p.Glu387Ilefs frameshift NM_001407976.1:c.1151_1155dup NP_001394905.1:p.Glu387Ilefs frameshift NM_001407977.1:c.1151_1155dup NP_001394906.1:p.Glu387Ilefs frameshift NM_001407978.1:c.1151_1155dup NP_001394907.1:p.Glu387Ilefs frameshift NM_001407979.1:c.1148_1152dup NP_001394908.1:p.Glu386Ilefs frameshift NM_001407980.1:c.1148_1152dup NP_001394909.1:p.Glu386Ilefs frameshift NM_001407981.1:c.1148_1152dup NP_001394910.1:p.Glu386Ilefs frameshift NM_001407982.1:c.1148_1152dup NP_001394911.1:p.Glu386Ilefs frameshift NM_001407983.1:c.1148_1152dup NP_001394912.1:p.Glu386Ilefs frameshift NM_001407984.1:c.1148_1152dup NP_001394913.1:p.Glu386Ilefs frameshift NM_001407985.1:c.1148_1152dup NP_001394914.1:p.Glu386Ilefs frameshift NM_001407986.1:c.1148_1152dup NP_001394915.1:p.Glu386Ilefs frameshift NM_001407990.1:c.1148_1152dup NP_001394919.1:p.Glu386Ilefs frameshift NM_001407991.1:c.1148_1152dup NP_001394920.1:p.Glu386Ilefs frameshift NM_001407992.1:c.1148_1152dup NP_001394921.1:p.Glu386Ilefs frameshift NM_001407993.1:c.1148_1152dup NP_001394922.1:p.Glu386Ilefs frameshift NM_001408392.1:c.1145_1149dup NP_001395321.1:p.Glu385Ilefs frameshift NM_001408396.1:c.1145_1149dup NP_001395325.1:p.Glu385Ilefs frameshift NM_001408397.1:c.1145_1149dup NP_001395326.1:p.Glu385Ilefs frameshift NM_001408398.1:c.1145_1149dup NP_001395327.1:p.Glu385Ilefs frameshift NM_001408399.1:c.1145_1149dup NP_001395328.1:p.Glu385Ilefs frameshift NM_001408400.1:c.1145_1149dup NP_001395329.1:p.Glu385Ilefs frameshift NM_001408401.1:c.1145_1149dup NP_001395330.1:p.Glu385Ilefs frameshift NM_001408402.1:c.1145_1149dup NP_001395331.1:p.Glu385Ilefs frameshift NM_001408403.1:c.1145_1149dup NP_001395332.1:p.Glu385Ilefs frameshift NM_001408404.1:c.1145_1149dup NP_001395333.1:p.Glu385Ilefs frameshift NM_001408406.1:c.1142_1146dup NP_001395335.1:p.Glu384Ilefs frameshift NM_001408407.1:c.1142_1146dup NP_001395336.1:p.Glu384Ilefs frameshift NM_001408408.1:c.1142_1146dup NP_001395337.1:p.Glu384Ilefs frameshift NM_001408409.1:c.1139_1143dup NP_001395338.1:p.Glu383Ilefs frameshift NM_001408410.1:c.1076_1080dup NP_001395339.1:p.Glu362Ilefs frameshift NM_001408411.1:c.1073_1077dup NP_001395340.1:p.Glu361Ilefs frameshift NM_001408412.1:c.1070_1074dup NP_001395341.1:p.Glu360Ilefs frameshift NM_001408413.1:c.1070_1074dup NP_001395342.1:p.Glu360Ilefs frameshift NM_001408414.1:c.1070_1074dup NP_001395343.1:p.Glu360Ilefs frameshift NM_001408415.1:c.1070_1074dup NP_001395344.1:p.Glu360Ilefs frameshift NM_001408416.1:c.1070_1074dup NP_001395345.1:p.Glu360Ilefs frameshift NM_001408418.1:c.1034_1038dup NP_001395347.1:p.Glu348Ilefs frameshift NM_001408419.1:c.1034_1038dup NP_001395348.1:p.Glu348Ilefs frameshift NM_001408420.1:c.1034_1038dup NP_001395349.1:p.Glu348Ilefs frameshift NM_001408421.1:c.1031_1035dup NP_001395350.1:p.Glu347Ilefs frameshift NM_001408422.1:c.1031_1035dup NP_001395351.1:p.Glu347Ilefs frameshift NM_001408423.1:c.1031_1035dup NP_001395352.1:p.Glu347Ilefs frameshift NM_001408424.1:c.1031_1035dup NP_001395353.1:p.Glu347Ilefs frameshift NM_001408425.1:c.1028_1032dup NP_001395354.1:p.Glu346Ilefs frameshift NM_001408426.1:c.1028_1032dup NP_001395355.1:p.Glu346Ilefs frameshift NM_001408427.1:c.1028_1032dup NP_001395356.1:p.Glu346Ilefs frameshift NM_001408428.1:c.1028_1032dup NP_001395357.1:p.Glu346Ilefs frameshift NM_001408429.1:c.1028_1032dup NP_001395358.1:p.Glu346Ilefs frameshift NM_001408430.1:c.1028_1032dup NP_001395359.1:p.Glu346Ilefs frameshift NM_001408431.1:c.1028_1032dup NP_001395360.1:p.Glu346Ilefs frameshift NM_001408432.1:c.1025_1029dup NP_001395361.1:p.Glu345Ilefs frameshift NM_001408433.1:c.1025_1029dup NP_001395362.1:p.Glu345Ilefs frameshift NM_001408434.1:c.1025_1029dup NP_001395363.1:p.Glu345Ilefs frameshift NM_001408435.1:c.1025_1029dup NP_001395364.1:p.Glu345Ilefs frameshift NM_001408436.1:c.1025_1029dup NP_001395365.1:p.Glu345Ilefs frameshift NM_001408437.1:c.1025_1029dup NP_001395366.1:p.Glu345Ilefs frameshift NM_001408438.1:c.1025_1029dup NP_001395367.1:p.Glu345Ilefs frameshift NM_001408439.1:c.1025_1029dup NP_001395368.1:p.Glu345Ilefs frameshift NM_001408440.1:c.1025_1029dup NP_001395369.1:p.Glu345Ilefs frameshift NM_001408441.1:c.1025_1029dup NP_001395370.1:p.Glu345Ilefs frameshift NM_001408442.1:c.1025_1029dup NP_001395371.1:p.Glu345Ilefs frameshift NM_001408443.1:c.1025_1029dup NP_001395372.1:p.Glu345Ilefs frameshift NM_001408444.1:c.1025_1029dup NP_001395373.1:p.Glu345Ilefs frameshift NM_001408445.1:c.1022_1026dup NP_001395374.1:p.Glu344Ilefs frameshift NM_001408446.1:c.1022_1026dup NP_001395375.1:p.Glu344Ilefs frameshift NM_001408447.1:c.1022_1026dup NP_001395376.1:p.Glu344Ilefs frameshift NM_001408448.1:c.1022_1026dup NP_001395377.1:p.Glu344Ilefs frameshift NM_001408450.1:c.1022_1026dup NP_001395379.1:p.Glu344Ilefs frameshift NM_001408451.1:c.1016_1020dup NP_001395380.1:p.Glu342Ilefs frameshift NM_001408452.1:c.1010_1014dup NP_001395381.1:p.Glu340Ilefs frameshift NM_001408453.1:c.1010_1014dup NP_001395382.1:p.Glu340Ilefs frameshift NM_001408454.1:c.1010_1014dup NP_001395383.1:p.Glu340Ilefs frameshift NM_001408455.1:c.1010_1014dup NP_001395384.1:p.Glu340Ilefs frameshift NM_001408456.1:c.1010_1014dup NP_001395385.1:p.Glu340Ilefs frameshift NM_001408457.1:c.1010_1014dup NP_001395386.1:p.Glu340Ilefs frameshift NM_001408458.1:c.1007_1011dup NP_001395387.1:p.Glu339Ilefs frameshift NM_001408459.1:c.1007_1011dup NP_001395388.1:p.Glu339Ilefs frameshift NM_001408460.1:c.1007_1011dup NP_001395389.1:p.Glu339Ilefs frameshift NM_001408461.1:c.1007_1011dup NP_001395390.1:p.Glu339Ilefs frameshift NM_001408462.1:c.1007_1011dup NP_001395391.1:p.Glu339Ilefs frameshift NM_001408463.1:c.1007_1011dup NP_001395392.1:p.Glu339Ilefs frameshift NM_001408464.1:c.1007_1011dup NP_001395393.1:p.Glu339Ilefs frameshift NM_001408465.1:c.1007_1011dup NP_001395394.1:p.Glu339Ilefs frameshift NM_001408466.1:c.1007_1011dup NP_001395395.1:p.Glu339Ilefs frameshift NM_001408467.1:c.1007_1011dup NP_001395396.1:p.Glu339Ilefs frameshift NM_001408468.1:c.1004_1008dup NP_001395397.1:p.Glu338Ilefs frameshift NM_001408469.1:c.1004_1008dup NP_001395398.1:p.Glu338Ilefs frameshift NM_001408470.1:c.1004_1008dup NP_001395399.1:p.Glu338Ilefs frameshift NM_001408472.1:c.1148_1152dup NP_001395401.1:p.Glu386Ilefs frameshift NM_001408473.1:c.1145_1149dup NP_001395402.1:p.Glu385Ilefs frameshift NM_001408474.1:c.950_954dup NP_001395403.1:p.Glu320Ilefs frameshift NM_001408475.1:c.947_951dup NP_001395404.1:p.Glu319Ilefs frameshift NM_001408476.1:c.947_951dup NP_001395405.1:p.Glu319Ilefs frameshift NM_001408478.1:c.941_945dup NP_001395407.1:p.Glu317Ilefs frameshift NM_001408479.1:c.941_945dup NP_001395408.1:p.Glu317Ilefs frameshift NM_001408480.1:c.941_945dup NP_001395409.1:p.Glu317Ilefs frameshift NM_001408481.1:c.938_942dup NP_001395410.1:p.Glu316Ilefs frameshift NM_001408482.1:c.938_942dup NP_001395411.1:p.Glu316Ilefs frameshift NM_001408483.1:c.938_942dup NP_001395412.1:p.Glu316Ilefs frameshift NM_001408484.1:c.938_942dup NP_001395413.1:p.Glu316Ilefs frameshift NM_001408485.1:c.938_942dup NP_001395414.1:p.Glu316Ilefs frameshift NM_001408489.1:c.938_942dup NP_001395418.1:p.Glu316Ilefs frameshift NM_001408490.1:c.938_942dup NP_001395419.1:p.Glu316Ilefs frameshift NM_001408491.1:c.938_942dup NP_001395420.1:p.Glu316Ilefs frameshift NM_001408492.1:c.935_939dup NP_001395421.1:p.Glu315Ilefs frameshift NM_001408493.1:c.935_939dup NP_001395422.1:p.Glu315Ilefs frameshift NM_001408494.1:c.911_915dup NP_001395423.1:p.Glu307Ilefs frameshift NM_001408495.1:c.905_909dup NP_001395424.1:p.Glu305Ilefs frameshift NM_001408496.1:c.887_891dup NP_001395425.1:p.Glu299Ilefs frameshift NM_001408497.1:c.887_891dup NP_001395426.1:p.Glu299Ilefs frameshift NM_001408498.1:c.887_891dup NP_001395427.1:p.Glu299Ilefs frameshift NM_001408499.1:c.887_891dup NP_001395428.1:p.Glu299Ilefs frameshift NM_001408500.1:c.887_891dup NP_001395429.1:p.Glu299Ilefs frameshift NM_001408501.1:c.887_891dup NP_001395430.1:p.Glu299Ilefs frameshift NM_001408502.1:c.884_888dup NP_001395431.1:p.Glu298Ilefs frameshift NM_001408503.1:c.884_888dup NP_001395432.1:p.Glu298Ilefs frameshift NM_001408504.1:c.884_888dup NP_001395433.1:p.Glu298Ilefs frameshift NM_001408505.1:c.881_885dup NP_001395434.1:p.Glu297Ilefs frameshift NM_001408506.1:c.824_828dup NP_001395435.1:p.Glu278Ilefs frameshift NM_001408507.1:c.821_825dup NP_001395436.1:p.Glu277Ilefs frameshift NM_001408508.1:c.812_816dup NP_001395437.1:p.Glu274Ilefs frameshift NM_001408509.1:c.809_813dup NP_001395438.1:p.Glu273Ilefs frameshift NM_001408510.1:c.770_774dup NP_001395439.1:p.Glu260Ilefs frameshift NM_001408511.1:c.767_771dup NP_001395440.1:p.Glu259Ilefs frameshift NM_001408512.1:c.647_651dup NP_001395441.1:p.Glu219Ilefs frameshift NM_007297.4:c.4322_4326dup NP_009228.2:p.Glu1443fs frameshift NM_007298.4:c.1148_1152dup NP_009229.2:p.Glu386Ilefs frameshift NM_007299.4:c.1151_1155dup NP_009230.2:p.Glu386fs frameshift NM_007300.4:c.4526_4530dup NP_009231.2:p.Glu1511fs frameshift NM_007304.2:c.1148_1152dup NP_009235.2:p.Glu386Ilefs frameshift NR_027676.2:n.4640_4644dup non-coding transcript variant NC_000017.11:g.43076508_43076512dup NC_000017.10:g.41228525_41228529dup NG_005905.2:g.141475_141479dup LRG_292:g.141475_141479dup LRG_292t1:c.4460_4464dup LRG_292p1:p.Glu1490Ilefs - Protein change
- E1443fs, E1490fs, E1511fs, E386fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43076504:TTTATTTT:TTTATTTTATTTT
-
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 |
13040 | 14846 | |
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
|
Jul 15, 2020 | RCV001384535.6 |
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
(Jul 15, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001584047.4
First in ClinVar: May 10, 2021 Last updated: Feb 28, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Glu1490Ilefs*17) 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.Glu1490Ilefs*17) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related conditions. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). 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.Glu1490Ilefs*17) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related conditions. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). 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 rs2154059426 ...
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 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.