ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1968_1969delinsAC (p.Tyr656_Phe657delinsTer)

dbSNP: rs1573567451
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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 RCV001013868 SCV001174504 pathogenic Hereditary cancer-predisposing syndrome 2019-07-17 criteria provided, single submitter clinical testing The c.1968_1969delCTinsAC pathogenic mutation (also known as p.Y656*), located in coding exon 12 of the MSH2 gene, results from an in-frame deletion of CT and insertion of AC at nucleotide positions 1968 to 1969. This changes the amino acid from a tyrosine to a stop codon within coding exon 12. 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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