ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9439dup (p.Ser3147fs)

dbSNP: rs2073024441
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001049714 SCV001213781 pathogenic Hereditary breast ovarian cancer syndrome 2020-09-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser3147Phefs*3) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 846415). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.

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