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
- Medical records of 26 patients with germline mutations of the VHL gene who had been diagnosed with VHL disease in Severance Hospital (Seoul, Republic of Korea) and Samsung Medical Center (Seoul, Republic of Korea) between 2003 and 2012 were reviewed. 9 unrelated patients diagnosed with Type 1 VHL disease shared the same VHL germline missense mutation (c.208G>A; p.Glu70Lys). The patients' phenotypes were as follows: 55 year old male with multiple CNS hemangioblastomas (patient 3), 55Y male with multiple CNS hemangioblastomas (Patient 4), 43Y male with multiple CNS hemangioblastomas (other phenotypic data not available, Patient 5), 11Y male with bilateral retinal hemangioblastoma (patient 6), 48Y female with CNS hemangioblastoma (Patient 7) , 64Y female with CNS hemangioblastoma (patient 8), 16Y F with retinal hemangioblastoma (Patient 9), 41Y female with CNS hemangioblastoma (patient 10). One patient has concurrent missense and splicing mutations (208G>A and IVS1+5G>C). 52 year old male with retinal hemangioblstoma. ACMG codes as follows: PM1 Located in a mutational hot spot and/or critical and well-established functional domain (e.g., active site of an enzyme) without benign variation.
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/6860
- 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 Direction
- Supports
- Evidence Level
- C
- Clinical Significance
- Uncertain Significance
- Pubmed
- 25078357
Drugs