ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) (rs200313585)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000115665 SCV000186067 likely benign Hereditary cancer-predisposing syndrome 2017-08-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other data supporting benign classification
Color RCV000115665 SCV000910589 benign Hereditary cancer-predisposing syndrome 2016-05-09 criteria provided, single submitter clinical testing
GeneDx RCV000200992 SCV000149574 likely benign not specified 2018-01-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000587897 SCV000697313 likely benign not provided 2016-02-11 criteria provided, single submitter clinical testing Variant summary: The c.180C>G in PMS2 gene is a missense variant that involves a non-conserved nucleotide and 4/5 in silico tools predict benign outcome. The variant is present in the broad control population dataset of ExAC predominantly in individuals of European descent, in both Finnish and non-Finnish cohorts at a frequency 0.86% and 0.1%, respectively, including 2 homozygotes. In functional studies this variant was shown not to affect splicing and ability to restore mismatch repair activity. The variant has been classified as Likely Benign/Benign by several reputable databases/clinical laboratories. Taking together, the variant was classified as Likely Benign.
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076828 SCV000108315 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability 0.001-0.049
Invitae RCV000524449 SCV000218776 benign Hereditary nonpolyposis colon cancer 2018-01-04 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.