ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.706-13T>C

gnomAD frequency: 0.00002  dbSNP: rs730881918
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160899 SCV000211593 benign not specified 2014-08-05 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.
Color Diagnostics, LLC DBA Color Health RCV001187146 SCV001353842 likely benign Hereditary cancer-predisposing syndrome 2019-08-22 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001187146 SCV002530380 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-12 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV003998527 SCV004826295 likely benign Lynch syndrome 2023-06-26 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001354065 SCV001548586 likely benign Malignant tumor of breast no assertion criteria provided clinical testing The PMS2 c.706-13T>C variant was not identified in the literature. The variant was identified in dbSNP (rs730881918) as “with benign allele” and ClinVar (classified as benign by GeneDx). The variant was identified in control databases in 5 of 236,444 chromosomes at a frequency of 0.00002 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: European in 4 of 106,650 chromosomes (freq: 0.00004) and Latino in 1 of 32,698 chromosomes (freq: 0.00003), while it was not observed in the African, Ashkenazi Jewish, East Asian, Finnish, Other or South Asian populations. The variant occurs at a non-highly conserved nucleotide outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign.

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.