ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.646-1_792+486del

dbSNP: rs2104097954
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001354320 SCV001548907 pathogenic Carcinoma of colon no assertion criteria provided clinical testing The MSH2 c.646-?_1276+?del variant (chr:2 g.47639553_47657080del GRCh37) results in a deletion of exons 4 to 7, although the precise breakpoints of this deletion were not determined, nor were the effects of this variant on the resulting mRNA or protein product determined. This MSH2 variant was not identified in the literature nor was it identified in the dbSNP or UMD-LSDB databases. The variant was identified in ClinVar (classified pathogenic by InSIGHT, reviewed by an expert panel in 2013). The variant was not identified in the following control databases: the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The c.646-?_1276+?del variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 216 and leads to a premature stop codon 12 codons downstream. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the MSH2 gene are an established mechanism of disease in Lynch syndrome and is the type of variant expected to cause the disorder. In summary, based on the above information this variant meets our laboratory’s criteria to be classified as pathogenic.

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.