AR Gene Variant rs104894342: What Your Genotype Means
The rs104894342 variant is a specific change within the androgen receptor (AR) gene. It is associated with androgen insensitivity syndrome, a condition where the body's cells do not respond properly to androgen hormones.
What each genotype means
Typical androgen receptor function
This genotype represents the common, non-pathogenic form of the AR gene at this location. Individuals with this genotype typically have normal androgen receptor function, which is essential for standard male sexual development and androgen-responsive gene expression.
This is the most common genotype found in the general population.
Potential androgen receptor variant
This genotype indicates the presence of a rare variant in the AR gene, which is associated with androgen insensitivity syndrome (AIS). Because the AR gene is located on the X chromosome, individuals with this genotype may experience varying degrees of reduced androgen sensitivity, ranging from partial to complete insensitivity, depending on other genetic and clinical factors. Please discuss these results with a medical geneticist or your healthcare provider to understand the clinical implications for your specific health context.
This specific variant is extremely rare in global population databases like gnomAD.
Understanding the Variant and Its Location
The variant rs104894342 is a single nucleotide change located within the AR gene on the X chromosome. In genetic databases, this specific change is often documented as a substitution that alters the protein sequence of the androgen receptor. Because the AR gene is located on the X chromosome, the way this variant manifests depends on an individual's sex chromosomes. In 46,XY individuals, who typically have one X chromosome, a single copy of a pathogenic variant can be sufficient to impact the function of the androgen receptor protein. This variant is categorized as a pathogenic substitution, meaning it is known to disrupt the normal biological instructions provided by the gene.
The Role of the Androgen Receptor Gene
The AR gene provides instructions for making the androgen receptor protein. This protein acts as a transcription factor, which is a type of protein that helps control the activity of other genes. When androgen hormones, such as testosterone or dihydrotestosterone, bind to the androgen receptor, the receptor changes shape and moves into the cell nucleus. Once inside the nucleus, it binds to specific DNA sequences to turn on or off genes that are essential for male sexual development and other physiological processes. If the AR gene contains a mutation, the resulting receptor may be unable to bind hormones effectively, fail to enter the nucleus, or be unable to activate target genes, leading to a spectrum of clinical features known as androgen insensitivity syndrome.
Research and Clinical Associations
Research has linked variants in the AR gene to a range of conditions, including partial or complete androgen insensitivity syndrome and male infertility. Studies have shown that these mutations can lead to significant functional changes, such as reduced receptor trans-activation or impaired nuclear translocation. The evidence for the pathogenicity of specific AR variants is often derived from clinical case studies of individuals presenting with disorders of sex development. It is important to note that the relationship between a specific genotype and a clinical phenotype can be complex; even with the same genetic variant, individuals may exhibit different symptoms. Because the evidence for many specific AR variants is limited to clinical reports, the severity of the condition can vary widely between individuals.
Population Frequency and Prevalence
The rs104894342 variant is considered extremely rare in large-scale population databases like gnomAD. Because it is associated with rare clinical conditions, it is not commonly found in the general population. Its rarity means that most people will not carry this specific variant. When such variants are identified, they are typically found in the context of clinical diagnostic testing for individuals or families experiencing symptoms related to androgen resistance or infertility.
Navigating Genetic Information
If you have received information about this variant, it is essential to understand that genetic data is only one piece of a larger clinical picture. This information should never be used for self-diagnosis or to make medical decisions without professional guidance. If you are concerned about your health or reproductive status, please consult with a qualified healthcare provider, such as a genetic counselor or an endocrinologist. They can help interpret your results in the context of your personal and family medical history. If this variant is linked to a medication response or a specific health condition, discuss all findings and potential management strategies with your clinician or pharmacist before making any changes to your healthcare plan.
How common is this variant?
The rs104894342 variant is extremely rare in the general population, as documented in databases like gnomAD.
Frequently asked questions
What is androgen insensitivity syndrome?
Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. It occurs when an individual who is genetically male (46,XY) is unable to respond to certain male sex hormones, leading to a range of physical characteristics.
Can this variant cause infertility?
Yes, mutations in the AR gene can lead to impaired androgen receptor function, which is necessary for normal sperm production. This can result in male infertility, though the severity depends on the specific mutation and its impact on the receptor.
Is this variant inherited?
The AR gene is located on the X chromosome, meaning it is inherited in an X-linked pattern. It can be passed from a mother to her children, or it can arise as a new (de novo) mutation in an individual.
What should I do if I have this variant?
If you have been identified as a carrier or have this variant, you should discuss the results with a medical geneticist or an endocrinologist. They can provide appropriate clinical context and discuss any necessary health monitoring.
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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