ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3897_3901del (p.Glu1299fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003058408 SCV003442098 pathogenic Hereditary breast ovarian cancer syndrome 2022-02-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1299Aspfs*7) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 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 BRCA2-related conditions. For these reasons, this variant has been classified as Pathogenic.
Human Genetics Bochum, Ruhr University Bochum RCV003334407 SCV004042765 likely pathogenic Pancreatic cancer, susceptibility to, 2 2023-01-26 criteria provided, single submitter clinical testing ACMG criteria used to clasify this variant: PVS1, PM2_SUP
Human Genetics Bochum, Ruhr University Bochum RCV003334406 SCV004042790 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2023-07-07 criteria provided, single submitter clinical testing ACMG criteria used to clasify this variant:PVS1, PM2_SUP

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