GJB2 rs111033335: Understanding Carrier Status for Hereditary Deafness
The rs111033335 variant is a specific genetic change located within the GJB2 gene. It is recognized in clinical databases as a carrier marker for autosomal recessive nonsyndromic hearing loss.
What each genotype means
Typical GJB2 profile
This genotype represents the common, non-variant form of the GJB2 gene at this position. It is not associated with the carrier status for recessive hereditary deafness linked to this specific marker.
This is the most common genotype observed across all global populations.
Carrier of recessive deafness marker
You carry one copy of this variant, which is identified as a marker for recessive hereditary deafness. Being a carrier typically does not cause hearing loss, but you should discuss the implications for family planning with a genetic counselor.
This genotype is rare in the general population, though frequency can vary significantly by ancestry.
Potential recessive deafness association
This genotype indicates the presence of two copies of the variant. Because this variant is associated with recessive hereditary deafness, individuals with this genotype may have an increased likelihood of hearing impairment, though clinical expression can be variable.
This genotype is extremely rare in the general population.
What is the rs111033335 Variant?
The rs111033335 variant is a single nucleotide polymorphism (SNP) located on chromosome 13 within the GJB2 gene. In genetics, a SNP represents a variation at a single position in the DNA sequence. This specific variant is cataloged in public databases like dbSNP and ClinVar due to its association with hereditary conditions. When researchers study such variants, they look at how the specific DNA sequence differs from the most common version found in the general population. Because this variant is classified as a carrier marker, it is primarily studied in the context of how it might be passed down through families. Understanding the location and nature of this variant is the first step in clinical genetic research, helping scientists determine if a specific change in the genetic code has a functional impact on the body's biological processes.
The Role of the GJB2 Gene
The GJB2 gene provides instructions for making a protein called connexin 26. This protein is a member of the connexin family, which forms gap junctions—specialized channels that allow cells to communicate with one another by passing small molecules and ions. In the inner ear, these gap junctions are essential for the normal function of the cochlea, the structure responsible for converting sound waves into electrical signals that the brain interprets as sound. When the GJB2 gene contains pathogenic variants, the production or function of the connexin 26 protein can be disrupted. This disruption interferes with the delicate chemical balance required for the hair cells in the inner ear to function properly, which can lead to sensorineural hearing loss. Because the gene is so critical for auditory health, it is one of the most extensively studied genes in the field of hereditary deafness.
Research and Clinical Associations
Research into GJB2-related conditions has established that many variants in this gene follow an autosomal recessive inheritance pattern. This means that an individual typically needs to inherit two copies of a pathogenic variant—one from each parent—to manifest the associated hearing loss. Carriers, who possess only one copy of a pathogenic variant, generally do not experience hearing loss themselves but may pass the variant to their children. The evidence strength for various GJB2 variants as causes of nonsyndromic hearing loss is well-documented in clinical literature. However, the clinical significance of any specific variant, including rs111033335, is determined by expert panels that review evidence from family studies, population frequencies, and functional assays. It is important to note that not all variants in the GJB2 gene are pathogenic; some are benign, and others have uncertain significance. Clinical interpretation relies on rigorous peer-reviewed data.
Population Frequency and Distribution
The frequency of GJB2 variants varies significantly across different global populations. While some GJB2 variants are common in specific ethnic groups, others are considered rare. The rs111033335 variant is generally described as rare in the general population. Population frequency data is gathered through large-scale genomic projects like gnomAD, which sequence the DNA of thousands of individuals from diverse backgrounds. These databases help researchers understand whether a variant is common enough to be considered a normal part of human genetic diversity or if it is rare and potentially linked to a specific condition. Because carrier rates for GJB2-related deafness can differ widely between populations, genetic counselors often consider an individual's ancestry when interpreting the results of genetic testing. If you have questions about your own genetic profile, it is best to consult with a qualified healthcare professional or a genetic counselor.
What This Information Means for You
Information about your carrier status for a genetic variant is a tool for understanding your family health history, but it should not be used for self-diagnosis. If you have received information about your status regarding rs111033335, it is important to remember that being a carrier is a common occurrence for many recessive traits. This information is most useful when discussed with a medical professional, such as a clinical geneticist or a genetic counselor, who can provide context based on your personal and family health history. They can help explain the implications of the result, discuss the likelihood of passing the variant to children, and provide guidance on whether further testing is appropriate for you or your family members. Never make medical decisions based solely on raw genetic data; always rely on the expertise of a clinician who can integrate your genetic information with other clinical findings.
How common is this variant?
The rs111033335 variant is considered rare in the general population, with its frequency varying across different ancestral groups.
Frequently asked questions
What does it mean to be a carrier for GJB2-related deafness?
Being a carrier means you have one copy of a pathogenic variant in the GJB2 gene. Carriers typically do not have hearing loss themselves but can pass the variant to their children.
Can I be tested for GJB2 variants?
Yes, clinical genetic testing for GJB2 is available through healthcare providers. You should discuss the necessity and implications of such testing with a doctor or genetic counselor.
Is GJB2-related hearing loss treatable?
While there is no cure for the genetic cause, hearing loss associated with GJB2 can often be managed with hearing aids, cochlear implants, or other supportive therapies. Early diagnosis is often helpful for accessing these interventions.
Does having this variant guarantee I will have hearing loss?
No, having a single copy of a recessive variant does not typically cause hearing loss. Even having two copies does not always result in the same severity of hearing loss, as other genetic and environmental factors can play a role.
Sources & further reading
Educational information only, last refreshed 9/19/2026. 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.