ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3830dup (p.Ala1279fs)

dbSNP: rs80357878
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112193 SCV000300026 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Labcorp Genetics (formerly Invitae), Labcorp RCV002514559 SCV003236939 pathogenic Hereditary breast ovarian cancer syndrome 2022-12-08 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala1279Glyfs*8) 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 has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is also known as 3949insC. ClinVar contains an entry for this variant (Variation ID: 125655). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000112193 SCV004216917 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2022-09-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112193 SCV000144889 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2002-06-20 no assertion criteria provided clinical testing

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