ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2520_2521delinsT (p.Val840_Ile841insTer) (rs587779147)

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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 RCV000491602 SCV000580458 pathogenic Hereditary cancer-predisposing syndrome 2015-02-06 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000657835 SCV000779591 pathogenic not provided 2017-12-15 criteria provided, single submitter clinical testing This deletion of two nucleotides is denoted MSH2 c.2520_2521delAAinsT at the cDNA level and p.Ile841Ter (I841X) at the protein level. The normal sequence, with the bases that are deleted and inserted in brackets, is ATGT[delAA][insT]TAGA. The combined insertion and deletion creates a nonsense variant, which changes an Isoleucine to a premature stop codon (ATA>TAG). Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider MSH2 c.2520_2521delAAinsT to be pathogenic.

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