Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL p.Cys162Phe (p.C162F)
(
ENST00000256474.3,
ENST00000345392.3,
ENST00000696143.2,
ENST00000696153.1,
ENST00000713811.1,
ENST00000713812.1,
ENST00000713815.1,
ENST00000713982.1 )
VHL p.Cys162Phe (p.C162F) ( 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 34 yr old VHL patient with multiple pancreatic cysts, pheochromocytoma, multiple renal cysts, and central nervous system and retinal hemangioblastomas (index case 74). There is supporting evidence for pathogenicity because the patient's phenotype is highly specific for a disease with a single genetic etiology (ACMG code: PP4). Relevant HPO terms: Hemangioblastoma, retinal hemangioblastoma, multiple renal cysts, multiple pancreatic cysts, pheochromocytoma.
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/5189
- Gene URL
- https://civic.genome.wustl.edu/links/genes/58
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1773
- Rating
- 2
- Evidence Type
- Predisposing
- Disease
- Von Hippel-Lindau Disease
- Evidence Direction
- Supports
- Evidence Level
- C
- Clinical Significance
- Uncertain Significance
- Pubmed
- 21463266
Drugs