ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2484T>A (p.Tyr828Ter)

dbSNP: rs45619134
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001546994 SCV001766610 pathogenic not provided 2021-01-06 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek 2016); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 2712T>A

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