ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.-5C>A (rs786202272)

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
Ambry Genetics RCV000165001 SCV000215695 uncertain significance Hereditary cancer-predisposing syndrome 2014-06-18 criteria provided, single submitter clinical testing The c.-5C>A variant located in the 5' untranslated region (5’ UTR) of the PMS2 gene. This variant results from a C to A substitution 5 bases upstream from the first translated codon. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.006% (greater than 15000 alleles tested) in our clinical cohort (includes this individual). This nucleotide position is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of c.-5C>A remains unclear.
Color Health, Inc RCV000165001 SCV000909688 likely benign Hereditary cancer-predisposing syndrome 2017-03-28 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.