ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2446-2A>G (rs886039709)

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
GeneDx RCV000255376 SCV000322656 likely pathogenic not provided 2016-08-11 criteria provided, single submitter clinical testing This variant is denoted PMS2 c.2446-2A>G or IVS14-2A>G and consists of an A>G nucleotide substitution at the -2 position of intron 14 of the PMS2 gene. This variant destroys the canonical splice acceptor site and is predicted to cause skipping of terminal exon 15, including the stop codon. Such a deletion is predicted to result in an unstable transcript and subsequent degradation of the mRNA (Klauer 2012), or in an abnormal protein product. This variant has not, to our knowledge, been published in the literature. However, based on the currently available information, we consider PMS2 c.2446-2A>G to be a likely pathogenic variant.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000255376 SCV000601848 likely pathogenic not provided 2017-06-13 criteria provided, single submitter clinical testing

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.