ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9455del (p.Glu3152fs)

dbSNP: rs2137654231
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001389520 SCV001590912 pathogenic Hereditary breast ovarian cancer syndrome 2022-02-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1075822). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Glu3152Glyfs*11) 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).

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