ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5216_5217insAA (p.Tyr1739Ter)

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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 RCV003530509 SCV004366439 pathogenic Hereditary breast ovarian cancer syndrome 2024-09-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1739*) 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 premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 11802209, 28888541). For these reasons, this variant has been classified as Pathogenic.

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