ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2165dup (p.Glu723fs) (rs397507178)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129381 SCV000184147 pathogenic Hereditary cancer-predisposing syndrome 2017-12-18 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)
GeneKor MSA RCV000708625 SCV000821773 pathogenic not provided 2018-08-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000500926 SCV000596683 pathogenic Nijmegen breakage syndrome-like disorder 2016-04-20 criteria provided, single submitter clinical testing
Invitae RCV000129381 SCV000255302 pathogenic Hereditary cancer-predisposing syndrome 2019-01-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu723Glyfs*5) in the RAD50 gene. It is expected to result in an absent or disrupted protein product. This variant has been reported in individuals with breast cancer (PMID: 25452441, 26824983). This variant is also known as c.2157dupA in the literature. ClinVar contains an entry for this variant (Variation ID: 141045). Loss-of-function variants in RAD50 are known to be pathogenic (PMID: 16385572, 19409520). For these reasons, this variant has been classified as Pathogenic.

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