ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.803+1G>A

dbSNP: rs1562669585
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 RCV001068955 SCV001234092 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-09-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 862267). Disruption of this splice site has been observed in individuals with colorectal cancer (PMID: 31992580; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 7 of the PMS2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800953 SCV002046267 likely pathogenic not provided 2020-10-20 criteria provided, single submitter clinical testing This variant is located in a canonical splice-donor site and is predicted to interfere with normal PMS2 mRNA splicing. To the best of our knowledge, the variant has not been reported in individuals with PMS2-related conditions in the published literature. Based on the available information, we predict that the variant is likely pathogenic.
Myriad Genetics, Inc. RCV003455298 SCV004187635 likely pathogenic Lynch syndrome 4 2023-09-19 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function.
Baylor Genetics RCV003455298 SCV004207854 pathogenic Lynch syndrome 4 2023-04-27 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.