GJB2 rs111033253: Understanding This Genetic Variant
The rs111033253 variant is located within the GJB2 gene, which provides instructions for making the connexin 26 protein. This variant is studied for its potential association with autosomal recessive nonsyndromic hearing loss, a condition affecting auditory function.
What each genotype means
Typical GJB2 profile
This genotype represents the reference sequence for this specific location in the GJB2 gene. It is considered the common or typical state found in the general population.
This is the most common genotype observed in the general population.
Carrier of deafness variant
This genotype indicates you carry one copy of a deletion variant in the GJB2 gene. Because GJB2-related hearing loss is typically inherited in a recessive manner, carrying a single copy is generally not associated with hearing impairment, though you may be a carrier for this condition.
This genotype is rare in the general population.
What is the rs111033253 Variant?
The rs111033253 variant is a specific change in the DNA sequence of the GJB2 gene. In genomics, an rsID (reference SNP cluster ID) acts as a unique identifier for a specific location in the human genome. This variant sits within the coding region of the GJB2 gene, which is located on chromosome 13. Because GJB2 is a critical gene for inner ear function, researchers monitor variants in this region to understand how small changes in the genetic code might influence the structure or function of proteins involved in hearing. While many variants in this gene are benign, others are classified as pathogenic if they disrupt the normal production or function of the connexin 26 protein. Identifying this specific variant helps clinicians and researchers categorize genetic profiles in the context of auditory health.
The Role of the GJB2 Gene
The GJB2 gene encodes a protein called connexin 26. This protein is a member of the gap junction family, which forms channels that allow small molecules and ions to pass between adjacent cells. In the inner ear, these gap junctions are essential for maintaining the chemical environment necessary for hair cells to convert sound waves into electrical signals that the brain can interpret. When the GJB2 gene contains pathogenic variants, the resulting connexin 26 protein may be non-functional or absent. This disruption can impair the homeostasis of the inner ear, potentially leading to sensorineural hearing loss. Because the inner ear is highly sensitive to these chemical imbalances, even minor alterations in the protein's structure can have significant impacts on auditory development and function.
Research and Evidence Strength
Research into GJB2 variants is extensive because mutations in this gene are a leading cause of inherited nonsyndromic hearing loss. The evidence strength for specific variants varies; while some, like c.35delG, are well-documented as highly pathogenic, others like rs111033253 require careful interpretation. Current research often utilizes audiometric data and family studies to determine if a variant co-segregates with hearing loss. It is important to note that the presence of a variant does not automatically guarantee a clinical diagnosis. Many factors, including the presence of a second variant on the other chromosome (compound heterozygosity) and environmental influences, play a role in the final phenotype. Clinical assessments for hearing loss are complex, and genetic findings are typically used as one piece of a larger diagnostic puzzle.
Population Frequency
The frequency of GJB2 variants varies significantly across different global populations. Some variants are common in specific ethnic groups due to founder effects, while others are extremely rare. The rs111033253 variant is generally considered rare in the general population. Because frequency data is often ancestry-specific, a variant that appears rare in a global database might be more prevalent in a specific regional or ancestral group. Researchers use large-scale databases like gnomAD to estimate these frequencies, which helps in determining the clinical significance of a variant. If you are interested in your own genetic profile, it is best to consult with a genetic counselor who can provide context based on your specific ancestral background and family history.
What You Can Do With This Information
Genetic information regarding variants like rs111033253 is primarily intended for educational and research purposes. If you have received a report indicating you carry this variant, it is important to remember that this is not a medical diagnosis. Genetic testing results should always be interpreted by a qualified healthcare professional, such as a clinical geneticist or a genetic counselor, who can explain the findings in the context of your personal and family health history. You cannot use this information to self-diagnose or predict future health outcomes with certainty. If you have concerns about your hearing or the hearing of a family member, the most appropriate step is to schedule an evaluation with an audiologist or an otolaryngologist. They can perform clinical tests to assess auditory function accurately.
How common is this variant?
The rs111033253 variant is classified as rare in the general population, with frequencies varying significantly across different ancestral groups.
Frequently asked questions
Is rs111033253 a cause of deafness?
While GJB2 variants are a common cause of inherited hearing loss, the clinical significance of any specific variant must be evaluated by a professional. Not all variants in this gene result in hearing loss.
Should I be worried if I have this variant?
Finding a variant in your genetic report does not mean you have a medical condition. You should discuss the findings with a genetic counselor to understand what they mean for your specific health context.
How is GJB2-related hearing loss inherited?
Most GJB2-related hearing loss follows an autosomal recessive pattern. This means an individual typically needs to inherit two copies of a pathogenic variant to be affected.
Can I use this information to diagnose myself?
No. Genetic data is complex and requires clinical correlation. Self-diagnosis is not possible or recommended; always consult a healthcare provider for medical concerns.
Sources & further reading
Educational information only, last refreshed 10/17/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Also known as 35delG, this frameshift mutation is a major cause of autosomal recessive nonsyndromic sensorineural hearing loss.
Pathogenic nonsense variant (p.Trp24Ter) in GJB2, representing one of the major causative alleles for autosomal recessive non-syndromic hearing loss in Mediterranean and South Asian groups.
This variant is associated with autosomal recessive nonsyndromic hearing loss.
Missense variant (p.Arg127His) in the GJB2 gene. While often reported in individuals with hearing loss, it is frequently classified as benign or likely benign in clinical databases when found in isolation, as it is common in the general population.
A missense variant (c.109G>A, p.Val37Ile) in GJB2, often identified as a common pathogenic variant associated with mild to moderate autosomal recessive nonsyndromic hearing loss (DFNB1A).
Frameshift deletion (c.235delC) conferring carrier status for autosomal recessive non-syndromic sensorineural hearing loss.