ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.791A>C (p.Gln264Pro)

dbSNP: rs730881780
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
Invitae RCV001247094 SCV001420496 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-10-21 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with MSH2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with proline at codon 264 of the MSH2 protein (p.Gln264Pro). The glutamine residue is moderately conserved and there is a moderate physicochemical difference between glutamine and proline.
Ambry Genetics RCV002418851 SCV002676529 uncertain significance Hereditary cancer-predisposing syndrome 2021-03-19 criteria provided, single submitter clinical testing The p.Q264P variant (also known as c.791A>C), located in coding exon 4 of the MSH2 gene, results from an A to C substitution at nucleotide position 791. The glutamine at codon 264 is replaced by proline, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.