CYTB rs527236162: Understanding This Mitochondrial Variant
The variant rs527236162 is a specific change located within the mitochondrial CYTB gene. It has been documented in clinical databases in association with certain health conditions, though it remains a rare finding in the general population.
What each genotype means
Typical mitochondrial sequence
This genotype represents the common mitochondrial DNA sequence at this position in the CYTB gene. It is considered the reference sequence in most population databases.
This is the most common genotype found across all global populations.
Heteroplasmic or variant carrier
This genotype indicates the presence of both the reference and the variant allele, which may occur due to heteroplasmy in mitochondrial DNA. Research has documented this variant in clinical databases in association with ovarian neoplasm, though the clinical significance remains subject to ongoing study.
This genotype is rare and typically identified in specific clinical research cohorts.
Documented variant profile
This genotype represents the presence of the variant allele at this mitochondrial position. It has been documented in clinical databases as potentially pathogenic in the context of ovarian neoplasm, though further clinical correlation is required to understand its specific health implications.
This genotype is rare and is not commonly observed in the general population.
What is rs527236162?
The variant rs527236162 is a single nucleotide polymorphism (SNP) located within the mitochondrial genome. Specifically, it is found at position 14,753 of the mitochondrial DNA sequence. Because this variant is located in the mitochondria—the energy-producing structures within our cells—it is inherited differently than variants found in the nuclear DNA. Mitochondrial DNA is passed down exclusively from the mother to her children. When a variant occurs in the mitochondrial genome, it can potentially affect the function of the proteins encoded by that DNA. In the case of rs527236162, the change involves a substitution of one nucleotide for another, which is recorded in clinical databases as m.14753C>T. This specific location is part of the mitochondrial chromosome, which is distinct from the 22 pairs of autosomes and the sex chromosomes found in the cell nucleus.
The Role of the CYTB Gene
The CYTB gene, also known as MT-CYB, provides instructions for making a protein called cytochrome b. This protein is a critical component of the ubiquinol-cytochrome c reductase complex, often referred to as Complex III. Complex III is a vital part of the mitochondrial respiratory chain, which is the process cells use to generate energy in the form of ATP. By facilitating the transfer of electrons, cytochrome b helps maintain the proton gradient across the mitochondrial membrane necessary for efficient energy production. Because mitochondria are essential for the function of high-energy tissues like the heart, brain, and muscles, any disruption in the proteins they produce can have significant biological consequences. Research into the CYTB gene often focuses on how mutations might impair this energy-production pathway, potentially leading to conditions characterized by mitochondrial dysfunction.
Research and Clinical Associations
The evidence surrounding rs527236162 is primarily derived from clinical reporting. It has been documented in databases such as ClinVar, where it has been associated with reports of ovarian neoplasms. It is important to note that the presence of a variant in a clinical database does not automatically imply a direct, causative link to a specific disease in every individual. The strength of evidence for many rare mitochondrial variants is often considered moderate or emerging, as researchers continue to study how these specific genetic changes influence cellular health. Because mitochondrial variants can exist in a state of heteroplasmy—where only a fraction of an individual's mitochondria carry the variant—the clinical impact can vary significantly between people. Current research continues to investigate the functional consequences of such variants to better understand their role in human health and disease.
Population Frequency and Interpretation
The variant rs527236162 is classified as rare in the general population. In genetic studies, rare variants are those that appear at a very low frequency across diverse ancestral groups. Because it is rare, there is limited data available regarding its distribution across different global populations. When interpreting information about rare variants, it is helpful to remember that most people carry many unique genetic variations that have no observable impact on their health. If you have received information about this variant through a genetic test, it is essential to view it within the context of your overall health history. Genetic information is complex, and the presence of a variant is only one piece of a much larger puzzle that includes environmental factors, lifestyle, and other genetic influences.
What You Can Do With This Information
If you have identified that you carry the rs527236162 variant, the most important step is to avoid drawing premature conclusions about your health. Genetic variants are not medical diagnoses, and they do not dictate your future health outcomes. You cannot change your genetic code, but you can use this information to have a more informed conversation with a healthcare professional. If you are concerned about the clinical implications of this variant, consider speaking with a certified genetic counselor or a physician who specializes in genetics. They can help you interpret the findings in the context of your personal and family medical history. Always rely on qualified medical professionals for health advice rather than attempting to interpret genetic data on your own. Remember that scientific understanding of the genome is constantly evolving, and what is known today may be updated as more research is conducted.
How common is this variant?
The rs527236162 variant is considered rare in the general population, with limited data available regarding its specific frequency across different ancestral groups.
Frequently asked questions
Is rs527236162 a cause of disease?
The presence of a variant does not necessarily mean you will develop a disease. While this variant has been documented in clinical databases, its clinical significance is complex and should be discussed with a medical professional.
How is mitochondrial DNA inherited?
Mitochondrial DNA is inherited exclusively from the mother. Both sons and daughters inherit their mitochondria from their mother, but only daughters pass them on to the next generation.
What should I do if my report shows this variant?
You should consult with a healthcare provider or a genetic counselor. They can help you understand what this result means for your specific health situation and whether any follow-up is necessary.
Can I change my mitochondrial DNA?
No, your mitochondrial DNA is inherited and cannot be changed. Genetic information is a static part of your biological makeup.
Where can I find more information about this SNP?
You can look up the rsID in public databases like ClinVar or the NCBI SNP database. These resources provide the most up-to-date scientific information regarding known variants.
Sources & further reading
Educational information only, last refreshed 10/8/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs527236162?
Upload a raw DNA file from 23andMe, AncestryDNA, MyHeritage, or FamilyTreeDNA and see this variant — plus thousands more — interpreted in your full report.
Get my report — $29