ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.760A>T (p.Lys254Ter)

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
Ambry Genetics RCV003387089 SCV004088751 pathogenic Hereditary cancer-predisposing syndrome 2023-07-03 criteria provided, single submitter clinical testing The p.K254* pathogenic mutation (also known as c.760A>T), located in coding exon 7 of the PTEN gene, results from an A to T substitution at nucleotide position 760. This changes the amino acid from a lysine to a stop codon within coding exon 7. In a massively parallel functional assay using a humanized yeast model, lipid phosphatase activity for this variant was functionally deficient (Mighell TL et al. Am J Hum Genet, 2018 May;102:943-955). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). As such, this alteration is interpreted as a disease-causing mutation.

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.