CYP21A2 rs267606757: What Your Genotype Means
The rs267606757 variant is a rare genetic change located within the CYP21A2 gene. It is classified as a pathogenic allele associated with congenital adrenal hyperplasia, a condition that affects the body's ability to produce essential hormones.
What each genotype means
Typical genotype
This genotype represents the common, non-pathogenic form of the CYP21A2 gene at this specific location. It is not associated with the development of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
This is the most common genotype found in the general population.
Carrier status
You carry one copy of the pathogenic allele associated with congenital adrenal hyperplasia. As this condition is inherited in an autosomal recessive manner, carriers typically do not exhibit symptoms but may pass the variant to their children.
This genotype is rare in the general population, though carrier frequencies can vary significantly by ancestry.
Associated with adrenal hyperplasia
This genotype is associated with 21-hydroxylase deficiency, which can lead to congenital adrenal hyperplasia. This condition affects the body's ability to produce certain hormones, such as cortisol, and you should discuss these results with a healthcare professional or genetic counselor to understand the clinical implications.
This genotype is very rare in the general population.
Understanding the Variant and Its Location
The variant rs267606757 is a specific change in the DNA sequence of the CYP21A2 gene, which is located on chromosome 6. In genetic databases, this variant is identified by its rsID, a unique reference number used by researchers to track specific locations in the human genome. This particular site is of interest to clinical geneticists because changes here can disrupt the normal function of the gene. Because the human genome is vast, identifying the exact position of a variant like rs267606757 is essential for accurate testing and interpretation. This variant is categorized as a pathogenic allele, meaning that when it is present, it is associated with a known clinical condition. Understanding its location helps researchers study how it interacts with other nearby genetic elements and how it might influence the overall health of an individual.
The Role of the CYP21A2 Gene
The CYP21A2 gene provides instructions for making an enzyme called 21-hydroxylase. This enzyme plays a critical role in the adrenal glands, which are small organs located on top of the kidneys. Specifically, 21-hydroxylase is responsible for the production of two vital hormones: cortisol and aldosterone. Cortisol is essential for managing stress, maintaining blood pressure, and regulating metabolism, while aldosterone helps balance salt and water levels in the body. When the CYP21A2 gene is altered, the body may not produce enough of this enzyme. This deficiency can lead to a group of disorders known as congenital adrenal hyperplasia (CAH). In these conditions, the adrenal glands may become enlarged as they attempt to compensate for the lack of hormone production, often leading to an imbalance of other hormones, such as androgens.
Research and Clinical Associations
Research into rs267606757 has established it as a pathogenic variant linked to 21-hydroxylase deficiency, the most common form of congenital adrenal hyperplasia. Clinical evidence, including data from databases like ClinVar, supports the classification of this variant as pathogenic. Studies indicate that individuals who inherit this variant may be at risk for developing symptoms associated with CAH, which can range from mild to severe depending on the specific combination of genetic changes present. It is important to note that CAH is an autosomal recessive condition, meaning that an individual typically needs to inherit a pathogenic variant from both parents to manifest the classic form of the disease. The strength of the evidence for this variant is considered moderate to high in clinical settings, as it is consistently identified in patients presenting with symptoms of adrenal hormone deficiency.
Population Frequency and Distribution
The rs267606757 variant is considered rare in the general population. Genetic studies, such as those using data from large-scale sequencing projects like gnomAD, show that this variant does not appear frequently across most ancestral groups. Because it is rare, the likelihood of an individual carrying this specific variant is low. However, carrier frequencies can vary significantly depending on the population and geographic region. In some cases, specific ethnic groups may show a slightly higher prevalence of certain CYP21A2 variants due to founder effects or historical population dynamics. Because the variant is rare, it is not typically included in standard, broad-spectrum genetic screening panels unless there is a specific clinical reason to investigate congenital adrenal hyperplasia. If you have concerns about your carrier status, it is best to consult with a genetic counselor who can provide context based on your personal and family history.
What This Information Means for You
If you have received information about your status regarding rs267606757, it is important to understand that this is a complex genetic finding. Genetic testing results should always be interpreted by a qualified healthcare professional, such as a medical geneticist or a genetic counselor. They can help you understand what your specific genotype means in the context of your overall health and family history. This information is not a diagnosis; rather, it is a piece of data that can inform discussions with your doctor. If you are concerned about the potential for congenital adrenal hyperplasia or are planning a family, a professional can explain the risks of passing on this variant to children. Never make medical decisions based solely on a genetic report. Always discuss your results and any potential health implications with your clinician or a specialist who can provide personalized guidance.
How common is this variant?
The rs267606757 variant is rare in the general population, with low frequency observed across most ancestral groups.
Frequently asked questions
What is congenital adrenal hyperplasia?
Congenital adrenal hyperplasia is a group of genetic disorders that affect the adrenal glands. It results in an inability to produce sufficient amounts of cortisol and sometimes aldosterone, which are essential for body function.
Is rs267606757 a common genetic variant?
No, rs267606757 is considered a rare variant. It is not commonly found in the general population.
What should I do if I am a carrier of this variant?
If you are a carrier, it means you have one copy of the variant. You should discuss this result with a genetic counselor or your healthcare provider to understand the implications for your health and family planning.
Can I be diagnosed with CAH based on this SNP alone?
A genetic variant alone is not a diagnosis. A clinical diagnosis of congenital adrenal hyperplasia requires a comprehensive evaluation by a doctor, including physical exams, hormone level testing, and clinical history.
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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Pathogenic variant (p.Val282Leu) in CYP21A2 associated with non-classic congenital adrenal hyperplasia.
Pathogenic variant associated with non-classic congenital adrenal hyperplasia presenting with hyperandrogenism, oligomenorrhea, and subfertility.
Pathogenic variant in CYP21A2 associated with 21-hydroxylase deficiency, used in reproductive carrier screening.
Pathogenic missense variant in CYP21A2 associated with 21-hydroxylase deficiency, a cause of congenital adrenal hyperplasia.
Well-characterized pathogenic missense variant (p.Pro30Leu) causing non-classic congenital adrenal hyperplasia and female hyperandrogenic subfertility.
This variant in the CYP21A2 gene is involved in steroid hormone metabolism and is noted in clinical databases.