ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.23+7G>T

dbSNP: rs878854047
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
GeneDx RCV000435961 SCV000515778 likely benign not specified 2015-10-28 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284325 SCV001470052 likely benign not provided 2020-09-10 criteria provided, single submitter clinical testing
Invitae RCV002524825 SCV002932755 likely benign Hereditary nonpolyposis colorectal neoplasms 2022-06-16 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000502345 SCV000592918 uncertain significance Endometrial carcinoma no assertion criteria provided clinical testing PMS2, EXON 1, c.23+7G>T, p.?, Variant of Unknown Significance (ACMG 3) The c.23+7G>T variant was not identified in the literature nor was it identified in the 1000 Genomes Project, HGMD, COSMIC, MutDB, “Mismatch Repair Genes Variant Database”, “MMR Gene Unclassified Variants Database”, “InSiGHT Colon Cancer Database”, “Zhejiang Colon Cancer Database” or ClinVar databases. The DNA NOMENCLATURE variant occurs outside of the splicing consensus sequence and in silico or computational prediction software (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) does not predict a difference in splicing in 5 of 5 different programs. (However, this information is not predictive enough to rule out pathogenicity.) In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of unknown significance.

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.