Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000710295 | SCV000840462 | pathogenic | PTEN hamartoma tumor syndrome | 2017-10-18 | reviewed by expert panel | curation | PTEN c.802-2A>T (IVS7-2A>T) meets criteria to be classified as pathogenic for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria (Mester et al. 2018; manuscript in preparation). 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. (Internal laboratory contributor(s), SCV000222230.9) |
Ambry Genetics | RCV000131528 | SCV000186522 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-11-04 | criteria provided, single submitter | clinical testing | Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity;In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;RNA Studies;Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation |
Gene |
RCV000212884 | SCV000222230 | pathogenic | not provided | 2014-02-28 | criteria provided, single submitter | clinical testing | The c.802-2 A>T destroys the canonical splice acceptor site in intron 7, and is expected to cause abnormal gene splicing. Although this mutation has not been reported previously to our knowledge, its presence is consistent with the diagnosis of a PTEN-related disorder. This mutation destroys the canonical splice acceptor site in intron 7, and is expected to cause abnormal gene splicing. The variant is found in PTEN-HEREDIC panel(s). |
Institute of Medical Genetics and Applied Genomics, |
RCV000212884 | SCV001447583 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Cancer Genomic Medicine Translational Research Lab, |
RCV000516134 | SCV000579242 | pathogenic | Cowden syndrome 1 | 2017-05-26 | no assertion criteria provided | research |