ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.376_377del (p.Ala126fs)

dbSNP: rs1114167659
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 RCV000491790 SCV000580032 pathogenic Hereditary cancer-predisposing syndrome 2014-01-06 criteria provided, single submitter clinical testing ​The c.376_377delGC pathogenic mutation, located in coding exon 5 of the PTEN gene, results from a deletion of two nucleotides between positions 376 and 377, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts 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.