Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076491 | SCV000107520 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation introducing premature termination codon |
Ambry Genetics | RCV002426636 | SCV002742371 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-08-30 | criteria provided, single submitter | clinical testing | The c.2507delT pathogenic mutation, located in coding exon 15 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 2507, causing a translational frameshift with a predicted alternate stop codon (p.F836Sfs*5). This mutation (designated as 2507del1) was identified in an HNPCC kindred (Lu SL et al. Jpn. J. Cancer Res. 1996 Mar;87:279-87). 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. |