What you carry at this position in your DNA and what research says about it.
Von Hippel-Lindau Syndrome: 7/10 evidence, 6 publications.
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Sample genotype (not yours): T/T
Typical Risk of Von Hippel-Lindau Syndrome
Two copies of the typical allele are present, representing the normal baseline. No elevated risk of VHL-associated tumors or polycythemia is expected.
What this genotype means: Normal tumor suppressor function; Typical risk of vascular tumors.
Sample genotype (not yours): C/C
Extremely High Risk of VHL and Polycythemia
Two copies of the pathogenic C allele are present, leading to severe von Hippel-Lindau syndrome and Chuvash polycythemia.
What this genotype means: Extremely high risk of vascular tumors; Development of Chuvash polycythemia.
Sample genotype (not yours): T/C
High Risk of Von Hippel-Lindau Syndrome
One copy of the pathogenic C allele is present, which is sufficient to cause von Hippel-Lindau syndrome. This genotype is also associated with a carrier status for Chuvash polycythemia.
What this genotype means: Significantly increased risk of multi-system tumors; Carrier of Chuvash polycythemia.
Gene function and biological role
Gene Function: VHL encodes the von Hippel-Lindau tumor suppressor protein, which is essential for cellular oxygen sensing [1]. Under normal oxygen levels, this protein targets hypoxia-inducible factors for rapid destruction [2]. When VHL is mutated, these factors accumulate and trigger the inappropriate growth of blood vessels and cells [3]. This pathway disruption leads to the formation of highly vascularized tumors in multiple organs [4]. The gene is also involved in other cellular processes, including cilia formation and extracellular matrix maintenance [5].
Variant Impact: The rs5030830 variant represents a single nucleotide change from T to C in the VHL gene. This nucleotide substitution results in a missense mutation, changing the amino acid leucine to proline at position 118 of the protein [1]. This structural alteration destabilizes the VHL protein and impairs its ability to bind target proteins [2]. The loss of functional tumor suppressor protein leads to uncontrolled cell proliferation and blood vessel growth [3]. Consequently, this specific variant is classified as highly pathogenic for von Hippel-Lindau syndrome and Chuvash polycythemia [5].
Key Insight: A single copy of this rare mutation can trigger tumor growth across multiple organs, while two copies also cause a rare blood-thickening disorder.
Location: VHL. Chromosome 3 · 3p25.3 · 10.1 Mb
Estimated prevalence by population
No frequency data available
This variant is not present in the gnomAD database.
Showing effects for T/T genotype
Cancer & Oncology
Urologic Cancers
Von Hippel-Lindau Syndrome. Evidence: 7/10. Source: PMID 38595826. Typical Risk.
Kidney Cancer. Evidence: 7/10. Source: PMID 27527340. Typical Risk.
Thyroid & Endocrine Cancers
Adrenal Tumor. Evidence: 7/10. Source: PMID 27527340. Typical Risk.
Cardiovascular & Metabolic
Blood Cell & Iron Traits
Chuvash Polycythemia. Evidence: 7/10. Source: PMID 27527340. Typical Risk.
Showing effects for C/C genotype
Von Hippel-Lindau Syndrome. Evidence: 7/10. Source: PMID 38595826. High Risk.
Kidney Cancer. Evidence: 7/10. Source: PMID 27527340. High Risk.
Adrenal Tumor. Evidence: 7/10. Source: PMID 27527340. High Risk.
Chuvash Polycythemia. Evidence: 7/10. Source: PMID 27527340. High Risk.
Showing effects for T/C genotype
Chuvash Polycythemia. Evidence: 7/10. Source: PMID 27527340. Healthy Carrier.
What this genotype means for the people who carry it
Sample genotype: TT (Homozygous)
Carrying the standard sequence at this position ensures normal functioning of the VHL tumor suppressor protein [1]. This protein plays a critical role in regulating oxygen sensing and targeting hypoxia-inducible factors for degradation [2]. Without the disruptive p.Leu118Pro mutation, the body maintains typical control over blood vessel growth and cellular division [1]. Consequently, there is no genetic predisposition to the multi-system tumors characteristic of von Hippel-Lindau disease [3]. Additionally, the risk for Chuvash polycythemia, a rare blood disorder, remains at the typical population baseline [4].
Normal tumor suppressor function; Typical risk of vascular tumors.
Sample genotype: CC (Homozygous)
Possessing two copies of the C allele means both VHL genes carry the p.Leu118Pro mutation, completely disrupting normal tumor suppressor activity [1]. This homozygous state is associated with severe, early-onset von Hippel-Lindau syndrome and its associated multi-system tumors [2]. Additionally, this genotype directly causes Chuvash polycythemia, an autosomal recessive disorder characterized by the overproduction of red blood cells [3]. The combination of tumor predisposition and blood hyperviscosity presents significant cardiovascular and oncological challenges [4].
Extremely high risk of vascular tumors; Development of Chuvash polycythemia.
Sample genotype: TC (Heterozygous)
A single copy of the C allele introduces a missense mutation (p.Leu118Pro) that severely impairs the VHL tumor suppressor protein [1]. Because von Hippel-Lindau syndrome is inherited in an autosomal dominant pattern, this single mutation significantly increases the lifetime risk of developing benign and malignant tumors [2]. These tumors commonly manifest as hemangioblastomas in the brain, spinal cord, and retina, as well as clear cell renal cell carcinomas [3]. While this genotype also represents a carrier state for Chuvash polycythemia, the blood disorder itself typically requires two copies of the mutation to manifest [2].
Significantly increased risk of multi-system tumors; Carrier of Chuvash polycythemia.
Variants with shared genetic architecture
rs104893826 · VHL Gene · Chr 3 · Hereditary Tumor Risk
rs5030804 · VHL Gene · Chr 3 · VHL Syndrome Risk
rs5030821 · VHL Gene · Chr 3 · VHL Tumor Syndrome Risk
Genotype-phenotype correlations in von Hippel-Lindau disease.
Genotype-phenotype analysis of von Hippel-Lindau syndrome in fifteen Indian families.
Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome.
Von-Hipple Lindau syndrome with family history: a case report and seventeen years follow-up study.
Content updated August 2026.
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