Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL p.Arg167Trp (p.R167W)
(
ENST00000256474.3,
ENST00000345392.3,
ENST00000696143.2,
ENST00000696153.1,
ENST00000713811.1,
ENST00000713812.1,
ENST00000713815.1,
ENST00000713982.1 )
VHL p.Arg167Trp (p.R167W) ( 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 five VHL patients. The 13 yr old patient had pheochromocytoma (PH) (index case 164). The 25 yr old patient had pheochromocytoma and multiple renal cysts (index case 260). The 27 yr old patient had pheochromocytoma, hemangioblastomas of the central nervous system (CNS) and retinal hemangioblastoma (index case 6). The 30 yr old patient had CNS hemangioblastomas and pheochromocytoma (index case 217). The 33 yr old patient had retinal hemangioblastomas and multiple renal cysts (index case 44). Only supporting evidence for pathogenicity because patient's phenotype is highly specific for a disease with a single genetic etiology (ACMG code: PP4).
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/5184
- Gene URL
- https://civic.genome.wustl.edu/links/genes/58
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1747
- Rating
- 2
- Evidence Type
- Predisposing
- Disease
- Von Hippel-Lindau Disease
- Evidence Direction
- Supports
- Evidence Level
- C
- Clinical Significance
- Uncertain Significance
- Pubmed
- 21463266
Drugs