ClinVar Miner

Submissions for variant NM_001304718.2(PTEN):c.-85del (rs587776673)

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
ClinGen PTEN Variant Curation Expert Panel RCV000790892 SCV000930132 pathogenic PTEN hamartoma tumor syndrome 2018-07-25 reviewed by expert panel curation PTEN c.507delC (p.Ser170Valfs) meets criteria to be classified as pathogenic for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria (PMID 30311380). Please see a summary of the rules and criteria codes in the "PTEN ACMG Specifications Summary" document (assertion method column). PVS1: Null variant predicted to result in nonsense-mediated decay or causing truncation/frameshift at or 5’ to c.1121 (NM_000314.4). PM2: Absent in large sequenced populations (PMID 27535533). PM6: Assumed de novo, but without confirmation of paternity and maternity in a patient with the disease and no family history. (PMID 12471211) PS4_P: Proband(s) with phenotype specificity score of 1-1.5. (PMID 12471211)
OMIM RCV000008292 SCV000028499 pathogenic Proteus-like syndrome 2003-11-01 no assertion criteria provided literature only
OMIM RCV000656709 SCV000778843 pathogenic Cowden syndrome 1 2003-11-01 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.