ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.716_717insT (p.Ser240fs)

dbSNP: rs1131691541
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493285 SCV000582340 pathogenic not provided 2015-09-03 criteria provided, single submitter clinical testing The BRCA2 c.7558C>T substitution creates a nonsense variant, which changes an Arginine to a premature stop codon(CGA>TGA) in exon 15, and is predicted to cause loss of normal protein function through either protein truncation ornonsense-mediated mRNA decay. This variant, also published as BRCA2 7786C>T using alternate nomenclature,has been reported in several families with Hereditary Breast and Ovarian Cancer syndrome and is consideredpathogenic (Hakansson 1997, Yang 2011, Schultheis 2014).

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