ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.49C>T (p.Gln17Ter) (rs786204910)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000169851 SCV000277049 pathogenic Hereditary cancer-predisposing syndrome 2015-07-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Color RCV000169851 SCV000905164 pathogenic Hereditary cancer-predisposing syndrome 2018-08-20 criteria provided, single submitter clinical testing
Invitae RCV000204017 SCV000259661 pathogenic PTEN hamartoma tumor syndrome 2015-07-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 17 (p.Gln17*). It is expected to result in an absent or disrupted protein product. Truncating variants in PTEN are known to be pathogenic. This particular truncation has been reported in the literature in individuals affected with Cowden syndrome (CS) or Bannayan-Riley-Ruvalcaba syndrome (BRRS), collectively also known as PTEN hamartoma tumor syndrome (PMID: 21194675, 21659347, 22266152, 25669429). For these reasons, this variant has been classified as Pathogenic.

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.