Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076233 | SCV000107251 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation introducing premature termination codon |
Ambry Genetics | RCV002399457 | SCV002709086 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-03-21 | criteria provided, single submitter | clinical testing | The c.1665delA pathogenic mutation, located in coding exon 11 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 1665, causing a translational frameshift with a predicted alternate stop codon (p.K555Nfs*2). This mutation was detected in 1/31 Chinese hereditary non-polyposis colorectal cancer (HNPCC) families (Wang XL et al. World J Gastroenterol, 2006 Jul;12:4074-7). Of note, this alteration is also referred to as c.1664delA in the literature. 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. |