Annotation Detail
Information
- Associated Genes
- PTEN
- Associated Variants
-
PTEN p.Arg173Cys (p.R173C)
(
ENST00000472832.3,
ENST00000371953.8,
ENST00000688308.1,
ENST00000700021.1,
ENST00000700029.2,
ENST00000713839.1 )
PTEN p.Arg173Cys (p.R173C) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 ) - Associated Disease
- PTEN hamartoma tumor syndrome
- Source Database
- CIViC Evidence
- Description
- Hopman et al presents a case study with an affected proband carrying PTEN R173C, and meeting the pediatric criteria for PTEN testing of Tan et al (2011). The proband died at 2 years due to a fatal chylothorax, having been seen at 1 year with progressive dyspnoea and displaying extensive lymphatic and venus malformations that displaced the right lung, as well as osteolytic lesions of the bones. Proband's mother and two siblings (one 7 years and one 7 months) also carried the PTEN R173C mutation and were thus far asymptomatic. The mother's parents did not carry the R173C mutation. PP4 ACMG evidence criteria are met as PTEN hamartoma tumor syndrome is a disease with a single genetic etiology.
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1935
- Gene URL
- https://civic.genome.wustl.edu/links/genes/41
- Variant URL
- https://civic.genome.wustl.edu/links/variants/838
- Rating
- 3
- Evidence Type
- Predisposing
- Disease
- PTEN Hamartoma Tumor Syndrome
- Evidence Direction
- Supports
- Evidence Level
- C
- Clinical Significance
- Uncertain Significance
- Pubmed
- 22628360
Drugs