ClinVar Miner

Submissions for variant NC_000010.11:g.(?_86875868)_(87894129_?)del

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 RCV000817289 SCV000957839 pathogenic PTEN hamartoma tumor syndrome 2018-09-17 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing the promoter as well as exons 1 to 2 of the PTEN gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the PTEN gene. This is expected to result in an absent or disrupted protein product. A similar deletion of exons 1 and 2 has been observed in an individual with Cowden syndrome (PMID: 25669429) as well as an individual with pediatric PTEN hamartoma tumor syndrome (Invitae). Loss-of-function variants in PTEN are known to be pathogenic (PMID: 9467011, 21194675). 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.