ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.-1206G>A

gnomAD frequency: 0.00011  dbSNP: rs961642255
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578891 SCV000680562 uncertain significance not provided 2017-07-10 criteria provided, single submitter clinical testing This variant is denoted PTEN c.-1206G>A, and describes a nucleotide substitution 1206 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 TCGC[G/A]TTGC. This variant, also called c.-1205G>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.-1206G>A is pathogenic or benign. We consider it to be a variant of uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002483548 SCV002792081 uncertain significance Macrocephaly-autism syndrome; Familial meningioma; Malignant tumor of prostate; Glioma susceptibility 2; Cowden syndrome 1 2022-03-15 criteria provided, single submitter clinical testing

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