SLC26A4 rs16892766: Understanding Genetic Associations
The rs16892766 variant is located within the SLC26A4 gene, which provides instructions for producing the pendrin protein. This variant is studied for its potential associations with Pendred syndrome and non-syndromic sensorineural hearing loss.
What each genotype means
Typical SLC26A4 genotype
This genotype represents the most common sequence found in the general population for this location in the SLC26A4 gene. It is not associated with the increased risk of Pendred syndrome or nonsyndromic hearing loss linked to pathogenic variants in this gene. No specific clinical action is indicated based on this result.
This is the most common genotype observed across all global populations.
Carrier of variant allele
You carry one copy of the variant allele and one typical copy. Because SLC26A4-related conditions are typically inherited in an autosomal recessive pattern, carrying a single copy is generally not sufficient to cause Pendred syndrome or nonsyndromic hearing loss. You may wish to consult with a genetic counselor if you have a family history of hearing loss or are planning a family.
This genotype is rare and its frequency varies significantly depending on ancestral background.
Potential increased risk profile
This genotype indicates the presence of two copies of the variant allele. Research associates bi-allelic variants in SLC26A4 with Pendred syndrome and nonsyndromic hearing loss, often involving enlargement of the vestibular aqueduct. Please discuss these results with a clinical geneticist or your healthcare provider to understand the clinical implications for your health.
This genotype is very rare in the general population.
What is rs16892766?
The rs16892766 variant is a specific change in the DNA sequence of the SLC26A4 gene. In genetics, an rsID (reference SNP cluster ID) acts as a unique identifier for a single nucleotide polymorphism, or SNP, which is a variation at a single position in the DNA sequence. This particular variant is located within the genomic region that encodes the SLC26A4 protein. Researchers track these variants to understand how subtle differences in our genetic code might influence biological processes or contribute to specific health conditions. Because this variant is categorized as rare, it is not a common feature found in the general population, making it a subject of interest in clinical genetics and research studies focused on hereditary conditions.
The Role of the SLC26A4 Gene
The SLC26A4 gene is responsible for producing a protein called pendrin. Pendrin functions as an anion exchanger, meaning it helps transport negatively charged ions—such as chloride, iodide, and bicarbonate—across the membranes of cells. This protein is primarily active in the inner ear and the thyroid gland. In the inner ear, pendrin is essential for maintaining the proper fluid environment required for hearing and balance. In the thyroid, it plays a critical role in the process of iodide transport, which is necessary for the production of thyroid hormones. When the SLC26A4 gene contains pathogenic mutations, the resulting dysfunction of the pendrin protein can disrupt these delicate physiological processes, potentially leading to the clinical features observed in conditions like Pendred syndrome or non-syndromic hearing loss.
Research and Clinical Associations
Scientific literature associates mutations in the SLC26A4 gene with a spectrum of conditions, most notably Pendred syndrome and autosomal recessive deafness (DFNB4). Pendred syndrome is characterized by a combination of sensorineural hearing loss, enlargement of the thyroid gland (goiter), and inner ear malformations, such as an enlarged vestibular aqueduct. Research indicates that the clinical presentation can be highly variable, even among individuals with similar genetic profiles. While some variants in this gene are well-established as pathogenic, the evidence strength for specific variants like rs16892766 is often described as moderate, requiring careful clinical interpretation. It is important to note that the presence of a variant does not guarantee the development of a condition, as environmental factors and other genetic modifiers often play a significant role in the final clinical outcome.
Interpreting Your Genetic Information
If you have received information regarding the rs16892766 variant, it is essential to understand that genetic data is complex and should be interpreted by a qualified healthcare professional, such as a genetic counselor or a medical geneticist. This information is for educational purposes and does not constitute a medical diagnosis. Because this variant is associated with hereditary conditions, a clinician can help place the finding in the context of your personal and family medical history. They can determine if further diagnostic testing, such as audiological evaluations or thyroid function tests, is appropriate. You should never make changes to your health management or medical care based solely on a genetic report without consulting your doctor. A professional can provide the necessary guidance to help you understand what these results mean for your specific health situation.
How common is this variant?
The rs16892766 variant is considered rare in the general population. Frequency data can vary significantly by ancestry, and it is recommended to consult databases like gnomAD for the most current population-specific statistics.
Frequently asked questions
Is rs16892766 a diagnosis for hearing loss?
No, a genetic variant is not a diagnosis. While this variant is associated with hearing loss, a clinical diagnosis requires a comprehensive evaluation by a medical professional, including physical exams and functional testing.
What should I do if I have this variant?
If you are concerned about your results, you should schedule an appointment with a genetic counselor or your primary care physician. They can help you understand the clinical significance of the variant in the context of your health.
Does this variant cause thyroid problems?
The SLC26A4 gene is involved in thyroid function, and certain mutations are linked to goiter or hypothyroidism. However, having this variant does not mean you will necessarily develop thyroid issues.
Where can I find more information on SLC26A4?
You can find reliable, peer-reviewed information on the SLC26A4 gene through resources like MedlinePlus Genetics, ClinVar, and PubMed. These sites provide detailed summaries of gene function and associated health conditions.
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 a pathogenic mutation associated with Pendred syndrome, which manifests as hearing loss and enlarged vestibular aqueduct syndrome.
This variant in the SLC26A4 gene is classified as pathogenic in ClinVar and is linked to hereditary hearing loss conditions.
This variant in the SLC26A4 gene is associated with Pendred syndrome and non-syndromic hearing loss.