ClinVar Miner

Submissions for variant NM_001304718.2(PTEN):c.-274G>T (rs1057519724)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PTEN Variant Curation Expert Panel RCV000790886 SCV000930115 likely pathogenic PTEN hamartoma tumor syndrome 2019-06-25 reviewed by expert panel curation PTEN c.477G>T (p.Arg159Ser) meets criteria to be classified as likely 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). PS3: Phosphatase activity <50% of wild type (PMID 29706350) PM2: Absent in large sequenced populations (PMID 27535533). PP2: PTEN is defined by the PTEN Expert Panel as a gene that has a low rate of benign missense variation and where missense variants are a common mechanism of disease.
Database of Curated Mutations (DoCM) RCV000444191 SCV000504397 pathogenic Breast neoplasm 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000427363 SCV000504398 pathogenic Neoplasm of the large intestine 2014-10-02 no assertion criteria provided literature only

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