ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.24-3T>C

gnomAD frequency: 0.00002  dbSNP: rs749485884
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
Invitae RCV000228314 SCV000285119 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000775371 SCV000909686 likely benign Hereditary cancer-predisposing syndrome 2017-05-29 criteria provided, single submitter clinical testing
GeneDx RCV000828153 SCV000969835 likely benign not provided 2018-05-25 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.
Ambry Genetics RCV000775371 SCV001176397 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-13 criteria provided, single submitter clinical testing The c.24-3T>C intronic variant results from a T to C substitution 3 nucleotides upstream from coding exon 2 in the PMS2 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing; however, direct evidence is insufficient at this time (Ambry internal data). 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.