ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.210-2_211del

dbSNP: rs1554897854
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clingen PTEN Variant Curation Expert Panel, Clingen RCV001078165 SCV001244233 pathogenic PTEN hamartoma tumor syndrome 2019-11-22 reviewed by expert panel curation PTEN c.210-2_211del meets criteria to be classified as pathogenic 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). PVS1: Null variant predicted to result in nonsense-mediated decay or causing truncation/frameshift at or 5' to c.1121 (NM_000314.4). PM2: Absent in large sequenced populations (PMID 27535533). PS4_P: Proband(s) with phenotype specificity score of 1-1.5 (PMID 28677221).
Cancer Genomic Medicine Translational Research Lab, Cleveland Clinic Genomic Medicine Institute RCV000516050 SCV000579227 pathogenic Cowden syndrome 1 2017-05-26 no assertion criteria provided research

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