ClinVar Miner

Submissions for variant NM_005732.3(RAD50):c.2156dupT (p.Glu723Glyfs*5) (rs1554098706)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000030958 SCV000053548 pathogenic Hereditary cancer-predisposing syndrome 2017-04-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000030958 SCV000548078 pathogenic Hereditary cancer-predisposing syndrome 2017-09-05 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 13 of the RAD50 mRNA (c.2156dupT), causing a frameshift at codon 723. This creates a premature translational stop signal (p.Glu723Glyfs*5) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAD50 are known to be pathogenic. This particular variant has been reported in an individual undergoing testing for hereditary cancer (PMID: 24763289). A different variant (c.2165dupA, also known as c.2157dupA) giving rise to the same protein effect observed here (p.Glu723Glyfs*5) has also been reported in 2 individuals affected with breast cancer (PMID: 26824983, 25452441). For these reasons, this variant has been classified as Pathogenic.

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