ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2779dup (p.Ile927fs) (rs587782277)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131134 SCV000186066 pathogenic Hereditary cancer-predisposing syndrome 2013-01-22 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)
Color RCV000131134 SCV000685324 pathogenic Hereditary cancer-predisposing syndrome 2017-05-10 criteria provided, single submitter clinical testing
GeneDx RCV000218611 SCV000279367 pathogenic not provided 2017-01-10 criteria provided, single submitter clinical testing This duplication of one nucleotide in MSH6 is denoted c.2779dupA at the cDNA level and p.Ile927AsnfsX8 (I927NfsX8) at the protein level. The normal sequence, with the base that is duplicated in brackets, is ACTT[A]TTAC. The duplication causes a frameshift, which changes an Isoleucine to an Asparagine at codon 927, and creates a premature stop codon at position 8 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. MSH6 c.2779dupA has been identified in an individual undergoing hereditary cancer panel testing (LaDuca 2014). We consider this variant to be pathogenic.

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