Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000758228 | SCV000886863 | likely pathogenic | PTEN hamartoma tumor syndrome | 2018-07-25 | reviewed by expert panel | curation | PTEN c.802delG (p.Asp268Thrfs) 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). 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). |
OMIM | RCV000008287 | SCV000028494 | pathogenic | Cowden syndrome 1 | 2001-03-01 | no assertion criteria provided | literature only |