Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076046 | SCV000107059 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation introducing a premature termination codon |
Ambry Genetics | RCV002321566 | SCV002606298 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-05-25 | criteria provided, single submitter | clinical testing | The c.1139delT pathogenic mutation, located in coding exon 7 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 1139, causing a translational frameshift with a predicted alternate stop codon (p.L380Yfs*32). This alteration was reported in one Lynch syndrome family consisting of a colorectal cancer displaying loss of MSH2 and MSH6 by immunohistochemistry (Hendriks Y et al. Am. J. Pathol., 2003 Feb;162:469-77). 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. |