ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.-764G>A (rs587776674)

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
ClinGen PTEN Variant Curation Expert Panel RCV000230941 SCV000840498 uncertain significance PTEN hamartoma tumor syndrome 2018-04-06 reviewed by expert panel curation PTEN c.-764G>A (NC_000010.10:g.89623462G>A) is currently classified as a variant of uncertain significance for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria (Mester et al. 2018; manuscript in preparation). Please see a summary of the rules and criteria codes in the 'PTEN ACMG Specifications Summary' document (assertion method column). PM2: Present at extremely low (<0.00001, 0.001%) allele frequency in the gnomAD cohort. (PMID 27535533).
GeneDx RCV000169801 SCV000222117 uncertain significance not provided 2021-05-10 criteria provided, single submitter clinical testing Describes a nucleotide substitution 765 basepairs upstream of the ATG translational start site in the PTEN promoter region; Observed in individuals with breast or endometrial cancer (Zhou 2003, Teresi 2007); Published functional studies are inconclusive: 60% decrease in luciferase activity, but luciferase mRNA levels similar to wild type; lost protein-DNA interaction and decreased expression by enhanced yeast one-hybrid assay (Teresi 2007, Fuxman Bass 2015); No data available from control populations to assess the frequency of this variant; Also known as c.-764G>A; This variant is associated with the following publications: (PMID: 27569544, 18794875, 23825907, 12844284, 17847000, 23315997, 25910213, 27187382)
Invitae RCV000230941 SCV000284573 uncertain significance PTEN hamartoma tumor syndrome 2016-03-28 criteria provided, single submitter clinical testing
Counsyl RCV000008294 SCV000785100 uncertain significance Cowden syndrome 1 2017-04-21 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763685 SCV000894565 uncertain significance Macrocephaly/autism syndrome; Meningioma, familial; Malignant tumor of prostate; VACTERL association with hydrocephalus; Glioma susceptibility 2; PTEN hamartoma tumor syndrome; Cowden syndrome 1 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000008294 SCV000028501 pathogenic Cowden syndrome 1 2007-10-01 no assertion criteria provided literature only

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.