ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1139del (p.Leu380fs)

dbSNP: rs63750039
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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) RCV000076046 SCV000107059 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing a premature termination codon
Ambry Genetics RCV002321566 SCV002606298 pathogenic Hereditary cancer-predisposing syndrome 2018-05-25 criteria provided, single submitter clinical testing The c.1139delT pathogenic mutation, located in coding exon 7 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 1139, causing a translational frameshift with a predicted alternate stop codon (p.L380Yfs*32). This alteration was reported in one Lynch syndrome family consisting of a colorectal cancer displaying loss of MSH2 and MSH6 by immunohistochemistry (Hendriks Y et al. Am. J. Pathol., 2003 Feb;162:469-77). 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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