ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2270dup (p.Tyr757Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002443888 SCV002736626 pathogenic Hereditary cancer-predisposing syndrome 2018-05-22 criteria provided, single submitter clinical testing The c.2270dupA pathogenic mutation (also known as p.Y757*), located in coding exon 14 of the MSH2 gene, results from a duplication of A at nucleotide position 2270. This changes the amino acid from a tyrosine to a stop codon within coding exon 14. This mutation (designated as Y757X) was reported in a patient with MSH2/MSH6-absent colorectal cancer diagnosed at age 28 whose family met Amsterdam criteria (Jasperson KW et al. Fam. Cancer 2010 Jun;9:99-107). 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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