Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000485388 | SCV000568154 | uncertain significance | not specified | 2016-06-19 | criteria provided, single submitter | clinical testing | This variant is denoted PTEN c.-918G>A, and describes a nucleotide substitution 918 base pairs upstream of the ATG translational start site in the PTEN promoter region. The surrounding sequence, with the base that is substituted in braces, is GGCG[G/A]GCGG. This variant, also called c.-917G>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.-918G>A is pathogenic or benign. |
Ambry Genetics | RCV001018986 | SCV001180286 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-07-16 | criteria provided, single submitter | clinical testing | The c.-918G>A variant is located in the 5' untranslated region (5’ UTR) of the PTEN gene. This variant results from a G to A substitution 918 bases upstream from the first translated codon. This variant is located in the promoter region of the PTEN gene; however, 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 not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |