ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.-734G>A (rs886047384)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PTEN Variant Curation Expert Panel RCV000345544 SCV000930144 uncertain significance PTEN hamartoma tumor syndrome 2019-03-05 reviewed by expert panel curation PTEN c.-734G>A (NC_000010.10:g.89623492G>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). No criteria currently apply to this variant.
GeneDx RCV000500698 SCV000709845 uncertain significance not specified 2015-02-04 criteria provided, single submitter clinical testing This variant is denoted PTEN c.-735G>A, and describes a nucleotide substitution 735 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 GCCC[G/A]GAGC. This variant, also called c.-734G>A using alternate numbering, has not been published in the literature to our knowledge. One study found that approximately 9% (9/95) of patients with Cowden syndrome (CS) were identified to have a point variant in the PTEN core promoter region (c.-798 to c.-1238) (Zhou 2003). While the c.-735G>A variant is outside of this core promoter region, it could still have an effect on transcription and, possibly, PTEN protein levels. Based on the currently available information, we consider this to be a variant of uncertain significance.
Genetic Services Laboratory, University of Chicago RCV000500698 SCV000596620 uncertain significance not specified 2016-08-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345544 SCV000365717 uncertain significance PTEN hamartoma tumor syndrome 2016-06-14 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine,University of Washington RCV000664312 SCV000788245 likely benign Cowden syndrome 1 2018-02-06 criteria provided, single submitter clinical testing Research exome identified causative de novo mutation in PPP2R5D that explains proband's phenotype reducing the likelihood the PTEN c.-734G>A is associated with disease. The mother of the observed proband also carries variant and does not have features of PHTS/Cowden's syndrome.

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