Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL p.Tyr98His (p.Y98H)
(
ENST00000256474.3,
ENST00000345392.3,
ENST00000696143.2,
ENST00000696153.1,
ENST00000713811.1,
ENST00000713812.1,
ENST00000713815.1,
ENST00000713982.1 )
VHL p.Tyr98His (p.Y98H) ( 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
- Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found 3 unrelated, German families, 2 of which had been previously described (Neumann et al. 1995). The newly-identified VHL type 2 patient had retinal angiomas and pheochromocytoma (family VHL 54). As previously described, one VHL type 2A family of 52 affected individuals had 26 patients with retinal angiomas, 6 with hemangioblastomas of the central nervous system, and 41 with pheochromocytoma (family VHL*). A VHL type 1 family of 3 had 2 patients with retinal angiomas and one with renal cell carcinoma (family VHL 47). This study contains supporting evidence for pathogenicity due to cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (ACMG code: PP1).
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/5372
- Gene URL
- https://civic.genome.wustl.edu/links/genes/58
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1741
- Rating
- 2
- Evidence Type
- Predisposing
- Disease
- Von Hippel-Lindau Disease
- Evidence Direction
- Supports
- Evidence Level
- C
- Clinical Significance
- Uncertain Significance
- Pubmed
- 8707293
Drugs