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
- Peripheral blood from 116 VHL-affected patients in an interrelated group of 14 German and 2 American families with common ancestry was tested for mutations of the VHL gene, revealing a c.292T>C mutation leading to a p.Tyr89His missense protein change. Among these 116 affected patients, 116 retinal angiomas, 17 CNS hemangioblastomas, 73 pheochromocytomas, and 4 renal cell carcinomas were noted. ACMG evidence codes: 'PP1', with the allele significant cosegregation with the disease in family members for a gene known to cause the described syndrome, and 'PP4' because the patients' phenotypes or family histories are highly specific for a disease with a single genetic etiology.
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/7645
- Gene URL
- https://civic.genome.wustl.edu/links/genes/58
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1741
- Rating
- 3
- Evidence Type
- Predisposing
- Disease
- Von Hippel-Lindau Disease
- Evidence Direction
- N/A
- Evidence Level
- C
- Clinical Significance
- N/A
- Pubmed
- 7759077
Drugs