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
- Germline mutations were found in all 93 families that fulfilled clinical criteria of VHL disease. Mutations predicted to inactivate the VHL protein were associated with renal cell carcinoma and hemangioblastomas of the central nervous system (VHL type 1); mutations predicted to produce full length VHL proteins were associated with pheochromocytoma (VHL type 2). This nonsense mutation was found in 3 VHL type 1 families and one VHL type 2 family (lineages 184, 93, 22, 92). Only moderate evidence for pathogenicity because protein length changes as a result of stop-loss variant (ACMG code: PM4).
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/5049
- 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
- 9829911
Drugs