Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL p.Leu153Pro (p.L153P)
(
ENST00000256474.3,
ENST00000345392.3,
ENST00000696143.2,
ENST00000696153.1,
ENST00000713811.1,
ENST00000713815.1,
ENST00000713982.1,
ENST00000713812.1 )
VHL p.Leu153Pro (p.L153P) ( ENST00000256474.3, ENST00000345392.3, ENST00000696143.2, ENST00000696153.1, ENST00000713811.1, ENST00000713812.1, ENST00000713815.1, ENST00000713982.1 ) - Associated Disease
- von Hippel-Lindau disease
- Source Database
- CIViC Evidence
- Description
- In a study of 426 unrelated VHL patients, 111 were discovered to have alterations in the VHL gene. 18 novel variants were identified in VHL patients, but none were present in 200 unaffected control individuals. This missense mutation was found in a 36 yr old VHL patient with multiple renal cysts as well as central nervous system and retinal hemangioblastoma (index case 191). ACMG codes as follows: Supporting evidence of pathogenicity because this is a missense variant in a gene that has a low rate of benign missense variation and where missense variants are a common mechanism of disease (PP2). Relevant HPO terms: hemangioblastoma, retinal hemangioblastoma, multiple renal cysts
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/5196
- Gene URL
- https://civic.genome.wustl.edu/links/genes/58
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1923
- Rating
- 2
- Evidence Type
- Predisposing
- Disease
- Von Hippel-Lindau Disease
- Evidence Direction
- Supports
- Evidence Level
- C
- Clinical Significance
- Uncertain Significance
- Pubmed
- 21463266
Drugs