Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL p.Ser80Asn (p.S80N)
(
ENST00000256474.3,
ENST00000345392.3,
ENST00000696143.2,
ENST00000696153.1,
ENST00000713811.1,
ENST00000713812.1,
ENST00000713815.1,
ENST00000713982.1 )
VHL p.Ser80Asn (p.S80N) ( ENST00000256474.3, ENST00000345392.3, ENST00000696143.2, ENST00000696153.1, ENST00000713811.1, ENST00000713812.1, ENST00000713815.1, ENST00000713982.1 ) - Associated Disease
- renal cell carcinoma
- Source Database
- CIViC Evidence
- Description
- Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found in a Slovakian, VHL type 1 family of 13 affected individuals. Seven had retinal angiomas, 7 had hemangioblastomas of the central nervous system, 5 had renal cell carcinoma, one had pancreatic cysts, and one had pancreatic islet cell tumors (family VHL 39). This study contains supporting evidence for pathogenicity due to cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (ACMG code: PP1).
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/5371
- Gene URL
- https://civic.genome.wustl.edu/links/genes/58
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1874
- Rating
- 2
- Evidence Type
- Predisposing
- Disease
- Renal Cell Carcinoma
- Evidence Direction
- Supports
- Evidence Level
- C
- Clinical Significance
- Uncertain Significance
- Pubmed
- 8707293
Drugs