ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.144C>A (p.Asn48Lys)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704361 SCV000833306 pathogenic PTEN hamartoma tumor syndrome 2018-02-27 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 48 of the PTEN protein (p.Asn48Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in an individual affected with PTEN hamartoma syndrome and has been found in several individuals affected with the same disease (PMID: 17526800, 14675182, 24498881, 25527629). Experimental studies have shown that this missense change reduces the ability of PTEN to suppress cellular AKT phosphorylation (PMID: 14675182, 17942903, 21828076, 24498881, 25527629). 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.