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
- Thirteen unrelated Korean subjects and their family members were tested for VHL mutations with direct sequencing and multiplex ligation dependent probe amplification. Clinical manifestations and family histories were recorded for each subject. Genetic testing confirmed a c.208G>A missense mutation in members of family #2,3,4. Family #2; A 25-year-old male Korean proband presented with a central nervous system hemangioblastoma. This patient had no family history of VHL. Family #3; A 46-year-old female Korean proband presented with bilateral retinal hemangioblastomas. The patient's 19-year-old son was found to share her mutation, but did not exhibit and VHL symptoms at the time of the study. The proband had a sister with retinal hemangioblastoma, but she did not receive genetic testing. Family #4; A 20-year-old female Korean proband presented with bilateral retinal hemangioblastomas. The patient has a mother who had received treatment for retinal hemangioblastoma, but refused to undergo genetic analysis. No other VHL symptoms were observed in the proband or her mother. Suggested ACMG Code: 'PP4' because the patient's phenotype or family history is highly specific for a disease with a single genetic etiology.
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/6742
- 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
- 27439424
Drugs