Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
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. |