Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL p.His115Arg (p.H115R)
(
ENST00000696153.1,
ENST00000713811.1,
ENST00000713812.1,
ENST00000713815.1,
ENST00000713982.1,
ENST00000256474.3,
ENST00000345392.3,
ENST00000696143.2 )
VHL p.His115Arg (p.H115R) ( 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 in a German, VHL type 1 family of 2. Both patients had hemangioblastomas of the central nervous system, renal cell carcinoma, pancreatic cysts, and cystadenomas of the epididymis (family VHL 60). One patient also had retinal angiomas. This study contains supporting evidence of pathogenicity due to cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (ACMG code: PP1). HPO terms: papillary cystadenomas of the broad ligament.
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/5377
- Gene URL
- https://civic.genome.wustl.edu/links/genes/58
- Variant URL
- https://civic.genome.wustl.edu/links/variants/2000
- Rating
- 2
- Evidence Type
- Predisposing
- Disease
- Von Hippel-Lindau Disease
- Evidence Direction
- Supports
- Evidence Level
- C
- Clinical Significance
- Uncertain Significance
- Pubmed
- 8707293
Drugs