Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL p.Leu188Val (p.L188V)
(
ENST00000256474.3,
ENST00000345392.3,
ENST00000696143.2,
ENST00000696153.1,
ENST00000713811.1,
ENST00000713812.1,
ENST00000713815.1,
ENST00000713982.1 )
VHL p.Leu188Val (p.L188V) ( ENST00000696153.1, ENST00000256474.3, ENST00000345392.3, ENST00000696143.2, ENST00000713811.1, ENST00000713812.1, ENST00000713815.1, ENST00000713982.1 ) - Associated Disease
- von Hippel-Lindau disease
- Source Database
- CIViC Evidence
- Description
- 36 VHL-related pheochromocytomas (from 21 patients) and 10 VHL-related CNS hemangioblastomas (from 6 patients) were studied using comparative genomic hybridization (CGH) to detect genetic imbalances. The study identified selective loss of chromosome 11 in pheochromocytomas associated with VHL. Patient XVI, XX and XXI in VHL-associated pheochromocytoma were found with germline missense mutation (c.562C>G) in the VHL gene. ACMG evidence codes: 'PP4' because the patients' phenotypes are highly specific for a disease with single genetic etiology.
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/7889
- Gene URL
- https://civic.genome.wustl.edu/links/genes/58
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1836
- Rating
- 3
- Evidence Type
- Predisposing
- Disease
- Von Hippel-Lindau Disease
- Evidence Direction
- N/A
- Evidence Level
- B
- Clinical Significance
- N/A
- Pubmed
- 11850829
Drugs