ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1665del (p.Lys555fs)

dbSNP: rs63751120
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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) RCV000076233 SCV000107251 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
Ambry Genetics RCV002399457 SCV002709086 pathogenic Hereditary cancer-predisposing syndrome 2022-03-21 criteria provided, single submitter clinical testing The c.1665delA pathogenic mutation, located in coding exon 11 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 1665, causing a translational frameshift with a predicted alternate stop codon (p.K555Nfs*2). This mutation was detected in 1/31 Chinese hereditary non-polyposis colorectal cancer (HNPCC) families (Wang XL et al. World J Gastroenterol, 2006 Jul;12:4074-7). Of note, this alteration is also referred to as c.1664delA in the literature. 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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