ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.-802G>A

dbSNP: rs876661166
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clingen PTEN Variant Curation Expert Panel, Clingen RCV000988410 SCV002576574 uncertain significance PTEN hamartoma tumor syndrome 2020-10-20 reviewed by expert panel curation PTEN c.-802G>A, also described as c.-801G>A (NC_000010.11:g.87863668G>A) 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). PM2: Absent in large sequenced populations
GeneDx RCV000222615 SCV000279700 uncertain significance not specified 2015-12-17 criteria provided, single submitter clinical testing This variant is denoted PTEN c.-802G>A, and describes a nucleotide substitution 802 base pairs upstream of the ATG translational start site in the PTEN core promoter region. The surrounding sequence, with the base that is substituted in braces, is GAGA{G/A}TTGA. This variant, also called c.-801G>A using alternate numbering, has not been published in the literature to our knowledge. This variant occurs within a region of the PTEN promoter (c.-798 to c.-1238) in which variants have been observed in individuals with features of Cowden syndrome (Zhou 2003). Based on currently available information, it is unclear whether PTEN c.-802G>A is pathogenic or benign. We consider it to be a variant of uncertain significance.
Mendelics RCV000988410 SCV001138119 likely benign PTEN hamartoma tumor syndrome 2019-05-28 criteria provided, single submitter clinical testing

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