ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1007del (p.Pro336fs)

dbSNP: rs587779064
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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) RCV000075996 SCV000107006 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variant introducing a premature termination codon
Ambry Genetics RCV002426633 SCV002729587 pathogenic Hereditary cancer-predisposing syndrome 2018-11-21 criteria provided, single submitter clinical testing The c.1007delC variant, located in coding exon 6 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 1007, causing a translational frameshift with a predicted alternate stop codon (p.P336Lfs*21). In a study of 1721 German probands suspected of HNPCC, this mutation (designated as c.1005_1008delCCCC) was detected in 1 family (Mangold E et al. Int J Cancer. 2005 Sep 20;116(5):692-702). 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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