ClinVar Miner

Submissions for variant NM_001304718.2(PTEN):c.-676_-674del (rs1114167649)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491564 SCV000580011 uncertain significance Hereditary cancer-predisposing syndrome 2015-03-06 criteria provided, single submitter clinical testing The c.30_32delCAG variant (also known as p.S10DEL) located in coding exon 1 of the PTEN gene. This variant results from an in-frame CAG deletion between nucleotide positions 30 and 32, which results inthe loss of a single serine residueat codon 10. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position.To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 83000alleles tested) in our clinical cohort.These nucleotide and amino acidpositions arehighly conserved in available vertebrate species.Since supporting evidence for this variant is limited at this time, the clinical significance of this variant remains unclear.
Invitae RCV000645037 SCV000766776 uncertain significance PTEN hamartoma tumor syndrome 2017-11-18 criteria provided, single submitter clinical testing This variant, c.30_32delCAG, results in the deletion of 1 amino acid of the PTEN protein (p.Ser10del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PTEN-related disease. ClinVar contains an entry for this variant (Variation ID: 428224). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, 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.