ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.529G>T (p.Glu177Ter)

dbSNP: rs63750382
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076632 SCV000107667 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Ambry Genetics RCV002345386 SCV002644851 pathogenic Hereditary cancer-predisposing syndrome 2021-02-25 criteria provided, single submitter clinical testing The p.E177* pathogenic mutation (also known as c.529G>T), located in coding exon 3 of the MSH2 gene, results from a G to T substitution at nucleotide position 529. This changes the amino acid from a glutamic acid to a stop codon within coding exon 3. This mutation has been identified in several families with Lynch syndrome, including an individual with MSI-H colorectal cancer demonstrating loss of MSH2 protein expression by IHC (Parc Y et al. J Med Genet, 2003 Mar;40:208-13). (Bécouarn Y et al. Gastroenterol Clin Biol;29:667-75). (Bonadona V et al. JAMA, 2011 Jun;305:2304-10). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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