ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.416del (p.Asn139fs)

dbSNP: rs63750401
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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) RCV000076597 SCV000107631 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Ambry Genetics RCV002326790 SCV002630490 pathogenic Hereditary cancer-predisposing syndrome 2018-12-05 criteria provided, single submitter clinical testing The c.416delA pathogenic mutation, located in coding exon 3 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 416, causing a translational frameshift with a predicted alternate stop codon (p.N139Mfs*35). This mutation has been reported in multiple patients with features of Lynch syndrome ((Mangold E et al. Int. J. Cancer 2005 Sep;116:692-702; Nagasaka T et al. Cancer Res. 2010 Apr;70:3098-108; Lagerstedt-Robinson K et al. Oncol. Rep. 2016 Nov;36:2823-2835). 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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