Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL p.Val62CysfsTer5 (p.V62Cfs*5)
(
ENST00000345392.3,
ENST00000696153.1,
ENST00000256474.3,
ENST00000696143.2,
ENST00000713811.1,
ENST00000713812.1,
ENST00000713815.1,
ENST00000713982.1 )
VHL p.Val62CysfsTer5 (p.V62Cfs*5) ( 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
- Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation causes a premature stop codon at amino acid 66 and was found in a VHL type 1 patient (patient no. V9). This study contains very strong evidence for pathogenicity in the form of a frameshift mutation in a gene where loss-of-function is a known mechanism of disease (ACMG code: PVS1).
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/5290
- Gene URL
- https://civic.genome.wustl.edu/links/genes/58
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1964
- Rating
- 3
- Evidence Type
- Predisposing
- Disease
- Von Hippel-Lindau Disease
- Evidence Direction
- Supports
- Evidence Level
- C
- Clinical Significance
- Uncertain Significance
- Pubmed
- 9829912
Drugs