ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.-105G>T

gnomAD frequency: 0.00003  dbSNP: rs1316552000
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV005000355 SCV005624715 uncertain significance not provided 2023-12-28 criteria provided, single submitter clinical testing This test has identified one copy of the c.-105G>T variant in the PTEN gene. To the best of our knowledge, this variant has not been reported in the published literature. The frequency of this variant in the general population, 0.000032 (1/31390 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. ClinVar contains an entry for this variant (URL: www.ncbi.nlm.nih.gov/clinvar, Variation ID: 492725). Based on the available information, we are unable to determine the clinical significance of this variant.
Mayo Clinic Laboratories, Mayo Clinic RCV000584656 SCV000692000 uncertain significance not specified no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004543296 SCV004758846 likely benign PTEN-related disorder 2019-12-24 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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