GJB2 rs786204690: What Your Genotype Means
The rs786204690 variant is a specific genetic change located within the GJB2 gene. It has been identified in clinical research as a pathogenic variant associated with autosomal recessive deafness.
What each genotype means
Common reference genotype
This is the most frequently observed genotype for this position in the general population. It is considered the reference sequence in standard genomic databases.
This is the most common genotype found in the general population.
Carrier of recessive variant
Individuals with this genotype carry one copy of the variant associated with autosomal recessive deafness. Because this condition is typically recessive, carrying a single copy generally does not result in the clinical phenotype, though you should consult with a genetic counselor to understand your specific risk profile.
This genotype is observed as a carrier state in populations where the variant is present.
Associated with recessive deafness
This genotype is associated with autosomal recessive deafness, specifically linked to the GJB2 gene. If you have this result, it is important to discuss the findings with a clinical geneticist or healthcare provider to understand the implications for your health and family planning.
This genotype is rare in the general population.
Understanding the Variant
The variant rs786204690 is a single nucleotide polymorphism (SNP) located on chromosome 13 within the GJB2 gene. In genetic terms, a SNP represents a variation at a single position in the DNA sequence. This specific variant involves a change in the nucleotide sequence that can alter the function of the protein encoded by the GJB2 gene. Because GJB2 is critical for normal physiological processes in the inner ear, variations in this gene are frequently studied in the context of hereditary hearing loss. Researchers use databases like dbSNP to track these variations, providing a stable identifier that allows scientists across the globe to share findings about the same specific location in the human genome. Understanding where a variant sits is the first step in determining how it might influence biological health.
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 gap junction family, which forms channels that allow for the transport of ions and small molecules between adjacent cells. In the cochlea of the inner ear, these channels are essential for maintaining the chemical environment necessary for the hair cells to function properly. When the GJB2 gene is altered, the resulting connexin 26 protein may be non-functional or absent, disrupting the flow of ions. This disruption can prevent the inner ear from effectively converting sound waves into electrical signals that the brain can interpret. Because the GJB2 gene is so vital for auditory function, mutations in this gene are among the most common genetic causes of non-syndromic hearing loss worldwide.
Clinical Associations and Evidence
Research has associated the rs786204690 variant with autosomal recessive deafness, specifically categorized as deafness, autosomal recessive 1A. In clinical genetics, 'pathogenic' classifications are assigned to variants that have been shown to cause a specific condition. Evidence for this variant is found in clinical archives like ClinVar, where it is linked to reports of hereditary hearing loss. It is important to note that the presence of a pathogenic variant does not guarantee a specific health outcome in every individual, as genetic expression can be influenced by other factors. Clinical research in this area is ongoing, and the strength of evidence for specific variants can evolve as more data is collected from diverse populations. Always consult with a genetic counselor or a medical professional to interpret how specific genetic findings relate to your personal health history.
Population Frequency and Interpretation
The frequency of specific genetic variants can vary significantly across different ancestral populations. While some variants are common, others are extremely rare and may only be found in specific families or geographic groups. For rs786204690, population frequency data is limited, which is common for rare pathogenic variants. When a variant is rare, it is often identified through clinical testing of individuals who are already experiencing symptoms, rather than through large-scale population screening. Because of this, it is difficult to estimate how often this variant appears in the general public. If you have received a report mentioning this variant, it is essential to discuss the results with a healthcare provider. They can help you understand the context of the finding, whether it is relevant to your health, and what, if any, follow-up steps are appropriate for you or your family members.
How common is this variant?
There is no widely recorded population frequency for this variant in large-scale databases, as it is a rare variant primarily identified in clinical research contexts.
Frequently asked questions
What does it mean if I have a GJB2 variant?
Having a GJB2 variant means there is a change in the DNA sequence of the GJB2 gene. Depending on the specific variant, it may or may not affect the function of the connexin 26 protein, which is important for hearing.
Is rs786204690 the same as other GJB2 mutations?
No, rs786204690 is a unique identifier for one specific location in the GJB2 gene. While many different mutations in GJB2 can cause hearing loss, each has its own specific clinical significance.
Should I be worried if this variant is on my report?
Genetic reports can be complex and should always be reviewed with a healthcare professional or genetic counselor. They can explain the clinical relevance of the finding based on your personal and family medical history.
Where can I find more information about GJB2?
You can find reliable information about genes and their associated conditions on resources like MedlinePlus Genetics. These sites provide educational summaries written for the general public.
Sources & further reading
Educational information only, last refreshed 10/4/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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