Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL p.Glu70Lys (p.E70K)
(
ENST00000256474.3,
ENST00000345392.3,
ENST00000696143.2,
ENST00000696153.1,
ENST00000713811.1,
ENST00000713812.1,
ENST00000713815.1,
ENST00000713982.1 )
VHL p.Glu70Lys (p.E70K) ( 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 case report of a 74-year-old male with colorectal adenocarcinoma, clear cell renal cell carcinoma, and hemangioblastomas of the central nervous system. The spinal hemangioblastoma was histopathologically confirmed. Bilateral multifocal cerebellar hemangioblastomas were inferred on brain MRI. Family history included a mother with a brain tumor of unconfirmed pathology, 2 brothers with the E70K variant and renal cell carcinoma, and an asymptomatic son in his 40s who was also found to have this variant. ACMG evidence codes: 'PP1' because of cosegregation with disease in multiple affected family members in a gene known to cause the disease, 'PP4' because the patient's phenotype and family history are highly specific for a disease with a single genetic etiology.
- Evidence Direction
- Supports
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/5805
- Gene URL
- https://civic.genome.wustl.edu/links/genes/58
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1956
- Rating
- 3
- Evidence Type
- Predisposing
- Disease
- Von Hippel-Lindau Disease
- Evidence Level
- C
- Clinical Significance
- Uncertain Significance
- Pubmed
- 25715769
Drugs