ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.493-6_511del

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 RCV002342653 SCV002640906 pathogenic Hereditary cancer-predisposing syndrome 2015-02-06 criteria provided, single submitter clinical testing The c.493-6_511del25 pathogenic mutation spans the last six nucleotides of intron 5 through the first 19 nucleotides of coding exon 6 in the PTEN gene. This pathogenic mutation results in a deletion of 25 nucleotides and disrupts the exon 6 splice acceptor site. Since mutations that disrupt the canonical splice acceptor site are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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.