C19orf12 rs515726204: Understanding This Rare Genetic Variant
The genetic variant rs515726204 is a rare alteration located within the C19orf12 gene. It is clinically associated with Neurodegeneration with brain iron accumulation 4 (NBIA4), a rare disorder characterized by the buildup of iron in the brain.
What each genotype means
Carrier of pathogenic variant
This genotype indicates that one copy of the C19orf12 gene contains the deletion while the other copy is the reference sequence. Individuals with this heterozygous genotype are considered carriers of a variant linked to Neurodegeneration with brain iron accumulation 4.
This specific genotype is very rare across all known human populations.
Typical reference genotype
This genotype represents the standard reference sequence for this region of the C19orf12 gene. It is not associated with the pathogenic effects linked to the deletion variant of this gene.
This is the most common genotype observed in the general population.
What is rs515726204 and where is it located?
The variant rs515726204 is a specific genetic change identified within the C19orf12 gene, which is located on chromosome 19. In genetic databases, this variant is often described as a deletion, specifically involving the removal of a sequence of nucleotides (ACAGCCCCCCG). Because it is a structural change rather than a simple single-letter swap, it is categorized as a deletion variant. It sits within the coding region of the gene, meaning it has the potential to alter the instructions the body uses to build the C19orf12 protein. Geneticists track this variant using its unique rsID, rs515726204, to ensure consistency in research and clinical reporting across different studies and diagnostic platforms.
The role of the C19orf12 gene
The C19orf12 gene provides instructions for creating a small protein found primarily in the membranes of mitochondria, the energy-producing powerhouses of our cells. While the exact biological function of this protein is still being studied, current research suggests it plays a critical role in lipid homeostasis—the process by which cells maintain healthy levels of fats. Disruptions in this gene are thought to interfere with this balance, potentially leading to cellular stress. In model organisms, such as fruit flies, the loss of the C19orf12 homolog has been linked to issues with triglyceride storage and increased sensitivity to oxidative stress. These findings help researchers understand why mutations in this gene can lead to the complex neurological symptoms observed in patients with related conditions.
Research associations and evidence
The variant rs515726204 is classified as pathogenic in clinical databases, meaning there is strong evidence linking it to specific health conditions. It is specifically associated with Neurodegeneration with brain iron accumulation 4 (NBIA4), also known as Mitochondrial membrane protein-associated neurodegeneration (MPAN). This condition is a rare, progressive disorder that typically presents with symptoms such as spasticity, dystonia, motor axonal neuropathy, and cognitive decline. The evidence for this association is considered robust within the clinical genetics community, as it is documented in resources like ClinVar. Because NBIA4 is a rare, autosomal recessive condition, the presence of this variant is a significant finding in a clinical context, often investigated when individuals present with the characteristic neurological and visual symptoms associated with iron accumulation in the basal ganglia.
Population frequency and rarity
This variant is extremely rare in the general population. Estimates suggest that conditions associated with C19orf12 mutations, such as MPAN, affect fewer than 1 in 1 million people worldwide. Because the variant is so uncommon, it is not typically found in large-scale population screening studies at high frequencies. Its presence is usually identified through targeted clinical testing for individuals who are already exhibiting symptoms of neurodegeneration. Due to its rarity, there is limited data on its distribution across different ancestral groups, and it is not a variant that would be expected in the general, healthy population. The rarity of the variant underscores the importance of specialized genetic counseling for families who receive a positive result for this specific mutation.
What this information means for you
If you or a family member have been identified as carrying this variant, it is essential to understand that this is a clinical finding that requires professional interpretation. This information is for educational purposes and should never be used to self-diagnose or make medical decisions. Because NBIA4 is a complex, progressive condition, management requires a multidisciplinary team of neurologists, geneticists, and other specialists. If you have received a report containing this variant, you should discuss the results with a board-certified genetic counselor or your primary healthcare provider. They can help explain the implications of the finding, discuss the inheritance pattern, and provide guidance on appropriate clinical follow-up or testing for other family members who may be at risk.
How common is this variant?
This variant is extremely rare, with the associated condition affecting fewer than 1 in 1 million people globally.
Frequently asked questions
What is NBIA4?
NBIA4, or Neurodegeneration with brain iron accumulation 4, is a rare genetic disorder where iron builds up in the brain. This accumulation leads to progressive neurological symptoms, including movement disorders and vision loss.
Is rs515726204 common?
No, this variant is very rare. It is not found in the general population at high frequencies and is primarily identified in clinical settings.
Can I test for this variant?
Yes, this variant can be identified through clinical genetic testing. Such testing is usually ordered by a physician or genetic counselor when a patient shows symptoms consistent with the associated condition.
What should I do if I have this variant?
If you have this variant, you should consult with a medical professional or a genetic counselor. They can provide context based on your personal health history and guide you through the next steps for clinical care.
Sources & further reading
Educational information only, last refreshed 9/20/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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