Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL p.Arg161Ter (p.R161*)
(
ENST00000256474.3,
ENST00000345392.3,
ENST00000696143.2,
ENST00000696153.1,
ENST00000713811.1,
ENST00000713812.1,
ENST00000713815.1,
ENST00000713982.1 )
VHL p.Arg161Ter (p.R161*) ( ENST00000696153.1, ENST00000256474.3, ENST00000345392.3, ENST00000696143.2, ENST00000713811.1, ENST00000713812.1, ENST00000713815.1, ENST00000713982.1 ) - Associated Disease
- von Hippel-Lindau disease
- Source Database
- CIViC Evidence
- Description
- Patients with ELSTs in the VHL registries of the participating centers in Europe were identified and included in the International Endolymphatic Sac Tumor Registry. The statistics of this registry is as follows: mean age 30, 62% female, 91% symptomatic, 54% with retinal angioma, 72% with CNS hemangioblastoma, 46% with renal cell carcinoma, 19% with pheochromocytoma, 12% with pancreatic neuroendocrine tumour. Only endolymphatic sac tumours can be confirmed as a phenotype for this mutation, which was found in 3 individuals from France or Argentina.
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/6614
- Gene URL
- https://civic.genome.wustl.edu/links/genes/58
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1804
- Rating
- 3
- Evidence Type
- Predisposing
- Disease
- Von Hippel-Lindau Disease
- Evidence Direction
- Supports
- Evidence Level
- C
- Clinical Significance
- Uncertain Significance
- Pubmed
- 25867206
Drugs