Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL p.Ser65Leu (p.S65L)
(
ENST00000256474.3,
ENST00000345392.3,
ENST00000696143.2,
ENST00000696153.1,
ENST00000713811.1,
ENST00000713812.1,
ENST00000713815.1,
ENST00000713982.1 )
VHL p.Ser65Leu (p.S65L) ( 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
- Thirty-two surgically resected HB specimens from 28 patients treated at the University of Tokyo Hospital between 1995 and 2012 were analyzed retrospectively. Of the 32 specimens, 11 were VHL-related HBs from 7 patients, and 21 were sporadic HBs from 21 patients. One of the 7 VHL patients was a female patient with a c.194C>T (p.Ser65Leu) mutation in the VHL gene. She developed a CNS hemangioblastoma in the cerebellum at 19Y. It is unclear whether she had germline testing. However, the patient met clinical criteria for VHL (Losner et al., 2003). Interestingly, the HB from this patient was noted to have LOH of chromosome 3p. No other phenotypic information was available.
- Variant Origin
- Unknown
- Variant Origin
- Unknown
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/6644
- Gene URL
- https://civic.genome.wustl.edu/links/genes/58
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1788
- Rating
- 2
- Evidence Type
- Predisposing
- Disease
- Von Hippel-Lindau Disease
- Evidence Direction
- Supports
- Evidence Level
- C
- Clinical Significance
- Uncertain Significance
- Pubmed
- 28379443
Drugs