ClinVar

Description

Variant summary: PTEN c.-904_-883dup22 (also known as c.-903_-882dup22 in RefSeq) is located in the promoter region upstream of the initiation codon. PTEN mutations causing Cowden syndrome include a noticeable number of variants on the promoter region affecting transcriptional levels of the gene or causing abnormal translation of the protein (PMID 22171747). However, the effect of c.-904_-883dup22 on gene transcription or translation is not clear. This variant was absent in 31202 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.-904_-883dup22 in individuals affected with Cowden Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.