OR52I1 rs2494085461: Understanding This Genetic Variant
The rs2494085461 variant is a genetic change located within the OR52I1 gene, which encodes a protein involved in the sense of smell. Current clinical databases classify this specific variant as likely benign, meaning it is not expected to cause significant health issues.
What each genotype means
Typical olfactory receptor profile
This genotype represents the most common form of the OR52I1 gene observed in the general population. As this gene encodes an olfactory receptor involved in odorant detection, this profile is considered the standard baseline for this genetic region.
This is the most frequent genotype found across global populations.
Common variant carrier
Carrying one copy of the variant allele is common and is not associated with any known clinical disease or significant functional impairment. The OR52I1 gene is involved in smell perception, and this variation is generally considered benign in current clinical databases.
This genotype is observed at varying frequencies depending on ancestral background but is generally considered a common variation.
Variant genotype
This genotype indicates the presence of the variant allele on both chromosomes. Current clinical evidence classifies this variant as likely benign, meaning it is not expected to cause health issues or significant changes to olfactory function.
This genotype is less common than the homozygous reference state and its frequency varies significantly by population.
What is the rs2494085461 Variant?
The rs2494085461 variant is a specific change in the DNA sequence of the human genome, categorized as a missense variant. In genetics, a missense variant occurs when a single nucleotide change results in the substitution of one amino acid for another within a protein. This variant is situated within the OR52I1 gene, which provides instructions for creating a protein that belongs to the large family of olfactory receptors. These receptors are primarily expressed in the olfactory epithelium, the tissue in the nose responsible for detecting odorant molecules. Because this variant is located in a coding region, researchers study it to determine if the amino acid change alters the protein's structure or function, though current evidence suggests it does not have a harmful impact on human health.
The Role of the OR52I1 Gene
The OR52I1 gene belongs to the olfactory receptor family, which is the largest gene family in the human genome. These genes encode G-protein-coupled receptors (GPCRs) that sit on the surface of sensory neurons in the nose. When odorant molecules bind to these receptors, they trigger a signaling cascade that sends electrical impulses to the brain, allowing us to perceive and distinguish different smells. Beyond their primary role in olfaction, some olfactory receptors are expressed in other tissues throughout the body, where they may play roles in non-sensory physiological processes. However, OR52I1 is primarily recognized for its function in the olfactory system. Understanding how variations in these genes affect our sensory perception is an active area of research, as individual differences in smell sensitivity are often linked to the genetic diversity found within this receptor family.
Clinical Evidence and Research Status
In the context of clinical genetics, rs2494085461 is documented in public archives such as ClinVar. It is currently annotated as likely benign, a classification assigned by clinical laboratories when there is substantial evidence that the variant does not contribute to disease. This classification is based on the consensus of data submitted by various clinical and research institutions. While the variant is a missense change, it does not appear to disrupt the essential functions of the OR52I1 protein. It is important to note that genetic research is an evolving field; as more data is collected from diverse populations, our understanding of such variants may be refined. Currently, there is no strong evidence linking this specific variant to any known medical condition or clinical phenotype, and it is generally considered a normal part of human genetic variation.
Population Frequency and Interpretation
Information regarding the specific population frequency of rs2494085461 is currently limited in major public databases. Genetic variants are often distributed unevenly across different ancestral groups, and for many rare or recently identified variants, comprehensive frequency data may not yet be available. Because this variant is classified as likely benign, it is not typically used in clinical diagnostic testing or risk assessment. For individuals who encounter this variant in a personal genetic report, it is helpful to understand that most of the variation in our DNA is neutral and does not impact our health. If you have concerns about your genetic results or how they relate to your health, the most appropriate step is to consult with a qualified healthcare provider or a genetic counselor who can provide context based on your personal and family medical history.
How common is this variant?
Specific population frequency data for rs2494085461 is not currently specified in major public genomic databases.
Frequently asked questions
Is the rs2494085461 variant dangerous?
No, current clinical evidence classifies this variant as likely benign. This means it is not expected to cause health problems or disease.
What does 'likely benign' mean in a genetic report?
A 'likely benign' classification means that clinical experts have reviewed the available evidence and concluded that the variant is very unlikely to be the cause of a medical condition.
Does this variant affect my sense of smell?
While the OR52I1 gene is involved in the sense of smell, there is no current evidence that this specific variant significantly alters olfactory function in humans.
Should I be worried if I have this variant?
There is no reason for concern. Most genetic variants are neutral, and this one is considered a normal part of human genetic diversity.
Sources & further reading
Educational information only, last refreshed 9/30/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This variant is identified in the GWAS Catalog as having associations with specific brain-related attributes.
This variant is associated with brain-related traits in genome-wide association studies.
A synonymous variant in the OR52I1 gene identified as having clinical significance in ClinVar.
A missense variant in the OR52I1 gene annotated as likely benign in ClinVar.