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
- 37 Danish patients diagnosed with VHL before 18 years from a prospective cohort study from Denmark's National vHL Research Database (Binderup et al., 2013) were assessed. Two families (Family ID 9 and 13) were found with a germline missense mutation in the VHL gene (S65W; c.194C>G). Family ID9 had 3 patients: Patient 1 and 2 were both diagnosed at 0Y and had no manifestations by the end of the study at 5Y and 10Y respectively. Patient 3 was diagnosed at 16Y and developed 2 CNS hemangioblastomas at 16Y and 2 pancreatic cysts at 16Y. Family ID13 had 1 patient who was diagnosed at age 13Y and had 8 retinal hemangioblastomas at 13Y, 16Y, 17Y, and 18Y, 1 pancreatic cyst at 17Y, and 1 CNS hemangioblastoma at 17Y. ACMG codes: PM1, PM5, PS3; and PP5.
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/6352
- 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
- 28650583
Drugs