ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2297del (p.Ile766fs) (rs863225394)

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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 RCV000491734 SCV000580418 pathogenic Hereditary cancer-predisposing syndrome 2017-12-05 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)
GeneDx RCV000201981 SCV000566480 pathogenic not provided 2017-01-31 criteria provided, single submitter clinical testing This deletion of one nucleotide in MSH2 is denoted c.2297delT at the cDNA level and p.Ile766AsnfsX46 (I766NfsX46) at the protein level. The normal sequence, with the base that is deleted in brackets, is GCTA[delT]ATCA. The deletion causes a frameshift which changes an Isoleucine to an Asparagine at codon 766, and creates a premature stop codon at position 46 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. MSH2 c.2297delT has been observed in at least one individual with early onset colon cancer, who met Amsterdam II criteria (Limburg 2011). We consider this variant to be pathogenic.
Invitae RCV000533797 SCV000625366 pathogenic Hereditary nonpolyposis colon cancer 2017-10-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile766Asnfs*46) in the MSH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic. This variant has been reported in an individual affected with young-onset colorectal cancer (PMID: 21056691). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000201981 SCV000257175 pathogenic not provided no assertion criteria provided research

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