Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL p.Ter214Cysext*? (p.*214Cext*?)
(
ENST00000256474.3,
ENST00000345392.3,
ENST00000696143.2,
ENST00000696153.1,
ENST00000713811.1,
ENST00000713812.1,
ENST00000713815.1,
ENST00000713982.1 )
VHL p.Ter214Cysext*? (p.*214Cext*?) ( 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
- This paper identified run-on mutations in 5 members of 4 distinct families. More specifically, genetic testing demonstrated the above mutation (X214CextX15) in 1 individual in a single family. Clinical manifestations included: pheochromocytoma, CNS hemangioblastoma, retinal hemangioblastoma, clear cell renal cell carcinoma, and pancreatic neuroendocrine tumor. Relevant HPO terms: Pheochromocytoma, Hemangioblastoma, Retinal hemangioblastoma, Clear cell renal cell carcinoma, Neuroendocrine neoplasm.
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/5336
- Gene URL
- https://civic.genome.wustl.edu/links/genes/58
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1988
- Rating
- 2
- Evidence Type
- Predisposing
- Disease
- Von Hippel-Lindau Disease
- Evidence Direction
- Supports
- Evidence Level
- C
- Clinical Significance
- Uncertain Significance
- Pubmed
- 20560986
Drugs