ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.397_398TG[1] (p.Ala134fs) (rs587781355)

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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 RCV000129139 SCV000183860 pathogenic Hereditary cancer-predisposing syndrome 2016-10-09 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 RCV000129139 SCV000255303 pathogenic Hereditary cancer-predisposing syndrome 2016-06-15 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 4 of the RAD50 mRNA (c.399_400delTG), causing a frameshift at codon 134. This creates a premature translational stop signal (p.Ala134Argfs*3) and is expected to result in an absent or disrupted protein product. Truncating variants in RAD50 are known to be pathogenic (PMID: 19409520, 16385572) and this particular variant has been identified in a cohort of patients who underwent hereditary cancer multigene panel testing. (PMID: 24763289). ClinVar contains an entry for this variant (Variation ID: 140899). For these reasons, this variant has been classified as Pathogenic.

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