Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL p.Glu70Lys (p.E70K)
(
ENST00000256474.3,
ENST00000345392.3,
ENST00000696143.2,
ENST00000696153.1,
ENST00000713811.1,
ENST00000713812.1,
ENST00000713815.1,
ENST00000713982.1 )
VHL p.Glu70Lys (p.E70K) ( 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
- 74-year-old man admitted to the Department of Neurosurgery at Yonsei University College of Medicine was found carry a p.Glu70Lys VHL gene mutation and presented with colorectal adenocarcinoma, renal clear cell carcinoma, and hemangioblastomas of CNS. Patient's mother suffered from a brain tumor of unconfirmed pathology, and both brothers (79Y and 70Y) presented with renal cell carcinoma and the same VHL gene mutation. One of the patient's son tested positive for the mutation without any clinical manifestations of disease. ACMG:PP2, PP1, PP4
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/6288
- Gene URL
- https://civic.genome.wustl.edu/links/genes/58
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1956
- Rating
- 3
- Evidence Type
- Diagnostic
- Disease
- Von Hippel-Lindau Disease
- Evidence Direction
- Supports
- Evidence Level
- C
- Clinical Significance
- Positive
- Pubmed
- 25715769
Drugs