ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2507del (p.Phe836fs)

dbSNP: rs63750008
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.