Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL p.Ser72ProfsTer87 (p.S72Pfs*87)
(
ENST00000256474.3,
ENST00000345392.3,
ENST00000696143.2,
ENST00000696153.1,
ENST00000713811.1,
ENST00000713812.1,
ENST00000713815.1,
ENST00000713982.1 )
VHL p.Ser72ProfsTer87 (p.S72Pfs*87) ( 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
- Genotype-phenotype correlations of 573 VHL patients were analyzed and confirmed that higher risk of pheochromocytoma is associated with missense mutations that result in substitution of a surface amino acid or that disrupt the structural integrity of the VHL gene product (pVHL). Age-related risks of retinal hemangioblastoma and renal cell carcinoma were higher in patients with nonsense or frameshift mutations. This mutation causes a frameshift, an early stop codon at amino acid 158, and was found in a VHL type 1 family with retinal hemangioblastoma, cerebellar hemangioblastomas, and renal cell carcinoma. There is very strong evidence for pathogenicity in the form of a frameshift variant in a gene where loss-of-function is known mechanism of disease (ACMG code: PSV1). Relevant HPO terms: Cerebellar hemangioblastoma, Retinal hemangioblastoma, Renal cell carcinoma.
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/5163
- Gene URL
- https://civic.genome.wustl.edu/links/genes/58
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1816
- Rating
- 4
- Evidence Type
- Predisposing
- Disease
- Von Hippel-Lindau Disease
- Evidence Direction
- Supports
- Evidence Level
- C
- Clinical Significance
- Uncertain Significance
- Pubmed
- 17024664
Drugs