Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001018779 | SCV001180054 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-12-17 | criteria provided, single submitter | clinical testing | The c.-906G>A variant located in the 5' untranslated region (5’ UTR) of the PTEN gene. This variant results from a G to A substitution 906 bases upstream from the first translated codon. This variant is located in the promoter region of the PTEN gene, but its potential impact on PTEN regulation has not yet been investigated (Zhou XP et al. Am J Hum Genet. 2003;73:404-411). This nucleotide position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Gene |
RCV002466517 | SCV002762321 | uncertain significance | not provided | 2022-11-30 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; No data available from control populations to assess the frequency of this variant; Also known as c.-906G>A; Variants within the PTEN promoter have been observed in individuals with features of Cowden syndrome (Zhou et al., 2003); This variant is associated with the following publications: (PMID: 12844284) |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV002466517 | SCV004219147 | uncertain significance | not provided | 2023-04-20 | criteria provided, single submitter | clinical testing | The variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Based on the available information, we are unable to determine the clinical significance of this variant. |
Gene |
RCV000483863 | SCV000572547 | uncertain significance | not specified | 2016-12-22 | flagged submission | clinical testing | This variant is denoted PTEN c.-906G>A, and describes a nucleotide substitution 906 base pairs upstream of the ATG translational start site in the PTEN promoter region. The surrounding sequence, with the base that is substituted in brackets, is TGTG[G/A]CGGG. This variant, also called c.-905G>A using alternate numbering, has not been published in the literature to our knowledge. Variants within the PTEN promoter have been observed in individuals with features of Cowden syndrome (Zhou 2003). Based on currently available information, it is unclear whether PTEN c.-906G>A is pathogenic or benign. We consider it to be a variant of uncertain significance. |