Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL p.Trp88Ter (p.W88*)
(
ENST00000713815.1,
ENST00000713982.1,
ENST00000256474.3,
ENST00000345392.3,
ENST00000696143.2,
ENST00000696153.1,
ENST00000713811.1,
ENST00000713812.1 )
VHL p.Trp88Ter (p.W88*) ( 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
- Mutational analysis for 16 patients with clinically diagnosed VHL disease, revealed 12 germline mutations. This nonsense mutation was found in 2 unrelated families. One family had a 32-year-old with hemangioblastomas of the central nervous system, renal cell carcinoma, pancreatic cysts, and epididymal cystadenoma, and their 8-year-old asymptomatic son (proband no. 8). The other family had a 39-year-old with renal cell carcinoma and pancreatic cysts and their 81-year-old mother with CNS hemangioblastomas (proband no. 9). There is very strong evidence of pathogenicity in the form of a nonsense variant in a gene where loss-of-function is known mechanism of disease (ACMG code: PSV1).
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/5776
- Gene URL
- https://civic.genome.wustl.edu/links/genes/58
- Variant URL
- https://civic.genome.wustl.edu/links/variants/2151
- Rating
- 2
- Evidence Type
- Predisposing
- Disease
- Von Hippel-Lindau Disease
- Evidence Direction
- Supports
- Evidence Level
- C
- Clinical Significance
- Uncertain Significance
- Pubmed
- 22357542
Drugs