ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1271C>G (p.Ser424Ter)

dbSNP: rs1566223138
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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 RCV001060024 SCV001224684 pathogenic Hereditary breast ovarian cancer syndrome 2024-12-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser424*) 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. ClinVar contains an entry for this variant (Variation ID: 854886). For these reasons, this variant has been classified as Pathogenic.

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