ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.681C>T (p.Ile227=) (rs188813057)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000217572 SCV000276576 likely benign Hereditary cancer-predisposing syndrome 2015-06-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,Other data supporting benign classification
Color RCV000217572 SCV000686225 likely benign Hereditary cancer-predisposing syndrome 2017-04-17 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588055 SCV000697376 uncertain significance not provided 2016-11-18 criteria provided, single submitter clinical testing Variant summary: The c.681C>T (p.Ile227=) in PMS2 gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting these predictions were published at the time of evaluation. The variant is present in the large control population dataset of ExAC at a low frequency 0.00007 (9/121412 chrs tested), predominantly in individuals of Latino origin (0.00026; 3/11578). The latter frequency exceeds the estimated maximal expected allele frequency of a pathogenic PMS2 variant, however this data should be taken with caution as psuedogene interference cannot be ruled out in this dataset. The c.681C>G has not, to our knowledge, been reported in affected individuals via published reports, but has been cited as Likely Benign by a reputable database/clinical laboratory. Taken together, this variant has been classified as VUS-Possibly Benign.
Invitae RCV000462024 SCV000562196 likely benign Hereditary nonpolyposis colon cancer 2018-01-05 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.