Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL p.Ser65Trp (p.S65W)
(
ENST00000713815.1,
ENST00000256474.3,
ENST00000345392.3,
ENST00000696143.2,
ENST00000696153.1,
ENST00000713811.1,
ENST00000713812.1,
ENST00000713982.1 )
VHL p.Ser65Trp (p.S65W) ( 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 Chinese family with mosaic VHL is described. The proband first came to medical attention with bilateral renal cell carcinoma, renal cysts, and pancreatic cysts. However, she initially tested negative for VHL. Her daughter presented with spinal hemangioblastoma, and upon genetic testing was found to have the above mutation. The probands' DNA was reexamined and was determined to harbour the above mutation in approximately 18% of peripheral leukocytes. ACMG evidence codes: 'PP4' because the patient's phenotypes or family history are highly specific for a disease with single genetic etiology, 'PP2' because they observe a missense variant in a gene where missense variants are a common mechanism of disease.
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/5693
- Gene URL
- https://civic.genome.wustl.edu/links/genes/58
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1787
- Rating
- 3
- Evidence Type
- Predisposing
- Disease
- Von Hippel-Lindau Disease
- Evidence Direction
- Supports
- Evidence Level
- C
- Clinical Significance
- Uncertain Significance
- Pubmed
- 23384228
Drugs