ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.-32CCT[1]

dbSNP: rs749497048
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000346847 SCV000365734 uncertain significance PTEN hamartoma tumor syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000482560 SCV000565442 uncertain significance not provided 2016-07-22 criteria provided, single submitter clinical testing This variant, denoted PTEN c.-29_-27delCCT, is a deletion of 3 nucleotides upstream of the PTEN ATG translational start site in the 5' untranslated region (UTR). The surrounding sequence, with the bases that are deleted in braces, is TCCT[CCT]TTTTC. This variant has not, to our knowledge, been published in the literature as pathogenic or benign and does not appear to affect the start codon or the Kozak translational consensus sequence. PTEN c.-29_-27delCCT was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Based on currently available information, it is unclear whether PTEN c.-29_-27delCCT is pathogenic or benign. We consider it to be a variant of uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000482560 SCV004219133 uncertain significance not provided 2024-10-18 criteria provided, single submitter clinical testing The PTEN c.-29_-27del variant has not been reported in individuals with PTEN-related conditions in the published literature. The frequency of this variant in the general population, 0.000044 (5/113736 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Based on the available information, we are unable to determine the clinical significance of this variant.
Fulgent Genetics, Fulgent Genetics RCV005044559 SCV005678969 uncertain significance Macrocephaly-autism syndrome; Familial meningioma; Glioma susceptibility 2; Familial prostate cancer; Cowden syndrome 1 2024-01-10 criteria provided, single submitter clinical testing

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