Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL p.Arg167Gln (p.R167Q)
(
ENST00000256474.3,
ENST00000345392.3,
ENST00000696143.2,
ENST00000696153.1,
ENST00000713811.1,
ENST00000713812.1,
ENST00000713815.1,
ENST00000713982.1 )
VHL p.Arg167Gln (p.R167Q) ( 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
- A case report of a 51Y male patient presenting with headaches and a family history of VHL disease revealed multiple CNS Hemangioblastomas, bilateral ccRCC, pheochromocytoma, and a pancreatic neuroendocrine tumour. A germline mutation of p.Arg167Trp was confirmed in the patient's VHL gene. ACMG: PM1, PP1, PP4
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/6222
- Gene URL
- https://civic.genome.wustl.edu/links/genes/58
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1739
- Rating
- 3
- Evidence Type
- Diagnostic
- Disease
- Von Hippel-Lindau Disease
- Evidence Direction
- Supports
- Evidence Level
- C
- Clinical Significance
- Positive
- Pubmed
- 29396065
Drugs