ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.206A>G (p.Asn69Ser) (rs786204922)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000169866 SCV000222194 uncertain significance not provided 2018-10-25 criteria provided, single submitter clinical testing This variant is denoted PTEN c.206A>G at the cDNA level, p.Asn69Ser (N69S) at the protein level, and results in the change of an Asparagine to a Serine (AAT>AGT). This variant has not, to our knowledge, been published in the literature as being pathogenic or benign. PTEN Asn69Ser was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Asparagine and Serine share similar properties, this is considered a conservative amino acid substitution. PTEN Asn69Ser occurs at a position that is conserved across species and is located in the Phosphatase domain (Nguyen 2014). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available evidence, it is unclear whether PTEN Asn69Ser is pathogenic or benign.
Invitae RCV000466652 SCV000541579 uncertain significance PTEN hamartoma tumor syndrome 2018-06-01 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 69 of the PTEN protein (p.Asn69Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a PTEN-related disease. ClinVar contains an entry for this variant (Variation ID: 189476). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Ambry Genetics RCV000564472 SCV000663569 uncertain significance Hereditary cancer-predisposing syndrome 2016-02-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000564472 SCV000686281 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-20 criteria provided, single submitter clinical testing

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.