ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.709C>T (p.Gln237Ter)

gnomAD frequency: 0.00001  dbSNP: rs1458321358
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
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507540 SCV000601857 likely pathogenic not provided 2017-05-22 criteria provided, single submitter clinical testing
Invitae RCV000530268 SCV000625682 pathogenic Hereditary nonpolyposis colorectal neoplasms 2023-11-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln237*) in the PMS2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PMS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 439245). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000662813 SCV000785649 likely pathogenic Lynch syndrome 4 2017-10-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV001026032 SCV001188335 pathogenic Hereditary cancer-predisposing syndrome 2022-06-21 criteria provided, single submitter clinical testing The p.Q237* pathogenic mutation (also known as c.709C>T), located in coding exon 7 of the PMS2 gene, results from a C to T substitution at nucleotide position 709. This changes the amino acid from a glutamine to a stop codon within coding exon 7. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Myriad Genetics, Inc. RCV000662813 SCV004019728 pathogenic Lynch syndrome 4 2023-04-03 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
deCODE genetics, Amgen RCV000662813 SCV004022258 likely pathogenic Lynch syndrome 4 2023-07-21 no assertion criteria provided research The variant NM_000535.7:c.709C>T (chr7:5997420) in PMS2 was detected in 1 heterozygote out of 58K WGS Icelanders (MAF= 0,001%). This variant has been reported in ClinVar previously as pathogenic/likely pathogenic. Based on ACMG criteria (PVS1, PM2) this variant classifies as likely pathogenic.

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.