ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.159A>G (p.Val53=) (rs189583426)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PTEN Variant Curation Expert Panel RCV000551843 SCV001244249 uncertain significance PTEN hamartoma tumor syndrome 2019-11-22 reviewed by expert panel curation PTEN c.159A>G (p.V53=) is currently classified as a variant of uncertain significance for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria (PMID 30311380). Please see a summary of the rules and criteria codes in the "PTEN ACMG Specifications Summary" document (assertion method column). BP4: Synonymous variant where at least 2 out of 3 in silico models predict no splicing impact.
Ambry Genetics RCV000163129 SCV000213641 likely benign Hereditary cancer-predisposing syndrome 2015-05-16 criteria provided, single submitter clinical testing
Invitae RCV000551843 SCV000645551 uncertain significance PTEN hamartoma tumor syndrome 2019-03-04 criteria provided, single submitter clinical testing This sequence change affects codon 53 of the PTEN mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PTEN protein. This variant is present in population databases (rs189583426, ExAC 0.02%) but has not been reported in the literature in individuals with a PTEN-related disease. ClinVar contains an entry for this variant (Variation ID: 184020). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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.