Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL p.Asn78Ser (p.N78S)
(
ENST00000345392.3,
ENST00000256474.3,
ENST00000696143.2,
ENST00000696153.1,
ENST00000713811.1,
ENST00000713812.1,
ENST00000713815.1,
ENST00000713982.1 )
VHL p.Asn78Ser (p.N78S) ( 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 male patient with Type 1 VHL disease presented with vision loss and retinal angiomatosis in the right eye at 19Y, left retinal angiomatosis at 23Y as well as CNS hemangioblastomas, neuroendocrine tumor of the pancreas which metastases to the liver, and renal tumors at 25Y. Patient was found to carry c.233A>G (p.Asn78Ser) mutation in the VHL gene. Patient had a positive family history of VHL clinical manifestations, although the genotype of affected family members was not confirmed. His mother presented with pancreatic and renal cysts at 37Y and retinal angiomatosis at 47Y. Patient's grandmother suffered from loss of vision in her 30s, and renal cancer and brain tumour at 58Y. ACMG: PP2, PP4
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/6289
- Gene URL
- https://civic.genome.wustl.edu/links/genes/58
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1755
- Rating
- 2
- Evidence Type
- Predisposing
- Disease
- Von Hippel-Lindau Disease
- Evidence Direction
- Supports
- Evidence Level
- C
- Clinical Significance
- Uncertain Significance
- Pubmed
- 26984080
Drugs