ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2982dup (p.Lys995Ter)

dbSNP: rs2552178623
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003097888 SCV003234659 pathogenic Hereditary breast ovarian cancer syndrome 2022-08-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys995*) 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.
BRCAlab, Lund University RCV003156042 SCV002589099 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2022-08-26 no assertion criteria provided clinical testing

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