Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000710299 | SCV000840476 | pathogenic | PTEN hamartoma tumor syndrome | 2017-10-18 | reviewed by expert panel | curation | PTEN c.987_990delTAAA (p.N329KfsX14) 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. (PMID 10232405) |
Ambry Genetics | RCV000169834 | SCV000186140 | pathogenic | Hereditary cancer-predisposing syndrome | 2013-03-01 | criteria provided, single submitter | clinical testing | Alterations resulting in premature truncation (e.g.reading frame shift, nonsense) |
Gene |
RCV000212887 | SCV000222155 | pathogenic | not provided | 2018-02-15 | criteria provided, single submitter | clinical testing | This deletion of four nucleotides in PTEN is denoted c.987_990delTAAA at the cDNA level and p.Asn329LysfsX14 (N329KfsX14) at the protein level. The normal sequence, with the bases that are deleted in brackets, is CAAA[delTAAA]GACA. The deletion causes a frameshift which changes an Asparagine to a Lysine at codon 329, and creates a premature stop codon at position 14 of the new reading frame. This variant is predicted to cause loss of normal protein function through protein truncation. PTEN c.987_990delTAAA, also reported as c.987del4, has been identified in association with Bannayan-Riley-Ruvalcaba syndrome and Cowden/Cowden-like syndrome (Marsh 1999, Ngeow 2011, Seol 2015). We consider this variant to be pathogenic. |