CYP19A1 rs137852986: Understanding Aromatase Deficiency
The rs137852986 variant is a rare genetic change located within the CYP19A1 gene. It is associated with aromatase deficiency, a condition that affects how the body processes sex hormones.
What each genotype means
Typical aromatase activity
You carry two reference copies of this region in the CYP19A1 gene. Research indicates that this genotype is associated with normal aromatase enzyme function and standard androgen-to-estrogen conversion. It does not carry the pathogenic variant linked to aromatase deficiency.
Found in greater than 99.99% of individuals across all major global populations.
Aromatase deficiency carrier
You carry one copy of the pathogenic missense variant in the CYP19A1 gene. Aromatase deficiency is inherited in an autosomal recessive manner, so carriers typically maintain sufficient enzyme activity and generally do not show symptoms of deficiency. However, there is a possibility of passing the variant to offspring.
Extremely rare, documented in fewer than 1 in 100,000 individuals worldwide.
Aromatase deficiency risk
You carry two copies of the pathogenic CYP19A1 variant, which severely disrupts aromatase enzyme activity. In clinical literature, homozygous inheritance of loss-of-function variants in this gene is linked to congenital aromatase deficiency, which can cause impaired estrogen synthesis, ambiguous genitalia in female infants, maternal virilization during pregnancy, and absent pubertal maturation. Anyone with this genotype profile should consult a clinical geneticist or endocrinologist for comprehensive clinical evaluation.
Exceptionally rare globally, occurring in far fewer than 1 in 1,000,000 individuals.
What is the rs137852986 Variant?
The rs137852986 variant is a specific change in the DNA sequence of the CYP19A1 gene. In genetics, an rsID (reference SNP cluster ID) acts as a unique identifier for a specific location in the human genome. This particular variant is categorized as a trait-associated marker. Because it is extremely rare, it is not typically found in the general population. Genetic variants like this are often studied in the context of rare, inherited conditions where the function of a specific protein is altered. Researchers track these variants to understand how small changes in our genetic code can lead to significant differences in biological processes, such as hormone regulation and development.
The Role of the CYP19A1 Gene
The CYP19A1 gene provides the instructions for the body to produce an enzyme called aromatase. Aromatase is essential for the conversion of androgens, such as testosterone, into estrogens, such as estradiol. This process is vital for normal sexual development and the maintenance of various physiological functions, including bone health and glucose metabolism. During fetal development, the placenta uses aromatase to convert androgens into estrogens, which protects the fetus from an excess of androgens. When the CYP19A1 gene contains variants that significantly reduce or eliminate the activity of this enzyme, it can lead to a condition known as aromatase deficiency, which disrupts the delicate balance of sex hormones in the body.
Research and Evidence
Current research into rs137852986 and other CYP19A1 variants is primarily focused on their role in aromatase deficiency. This condition is inherited in an autosomal recessive pattern, meaning an individual typically needs to inherit two copies of a non-functional variant to experience symptoms. Clinical evidence links these variants to atypical genitalia in females, maternal virilization during pregnancy, and delayed or absent pubertal development. It is important to note that the evidence strength for many rare variants remains limited. Because these conditions are rare, clinical data is often derived from case studies rather than large-scale population screenings. Scientists continue to investigate these variants to better understand the spectrum of aromatase-related disorders and their impact on human health.
Population Frequency
The rs137852986 variant is classified as extremely rare in global databases such as gnomAD, with a frequency of less than 0.00001. This means the variant is not commonly found in the general population across different ancestries. Because of its rarity, most individuals will not carry this specific variant. When rare variants are identified, they are often found in the context of clinical investigations into specific health conditions rather than as common variations found in the general public.
What This Information Means for You
Understanding genetic variants like rs137852986 is a part of the growing field of genomic medicine. However, it is crucial to remember that the presence of a rare variant does not automatically imply a medical diagnosis. Genetic information is complex and should always be interpreted by qualified healthcare professionals, such as genetic counselors or medical geneticists, who can place findings in the context of an individual's personal and family health history. If you have concerns about your health or potential genetic conditions, you should consult with a clinician. Never use genetic data to make independent medical decisions or to alter any prescribed treatments without professional guidance.
How common is this variant?
The rs137852986 variant is extremely rare in the general population, with a frequency of less than 0.00001 in gnomAD.
Frequently asked questions
What is aromatase deficiency?
Aromatase deficiency is a rare genetic condition where the body cannot produce enough estrogen because the aromatase enzyme is not functioning correctly. This leads to an imbalance of sex hormones, which can affect physical development.
Can I be tested for this variant?
Genetic testing for specific variants is usually performed in a clinical setting when there is a medical reason to suspect a genetic condition. You should speak with a doctor or a genetic counselor if you have concerns about your genetic health.
Is this variant common?
No, this variant is extremely rare. It is not a common variation found in the general population.
What should I do if I have this variant?
If you have received a report indicating you carry this variant, you should discuss the results with a healthcare professional. They can help you understand what the result means for your specific health situation.
Sources & further reading
Educational information only, last refreshed 10/12/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This variant in the aromatase gene is associated with circulating estrogen levels and influences the timing of natural menopause and cardiovascular risk profiles in postmenopausal women.
This regulatory variant in the aromatase gene is associated with circulating estradiol levels and the timing of natural menopause.
Intronic variant in the CYP19A1 gene associated with circulating estradiol and follicle-stimulating hormone (FSH) levels in men.
This variant in the aromatase gene is associated with variations in sex hormone levels and potential risk modulation for hormone-dependent reproductive cancers.
Affects aromatase activity, influencing efficacy and toxicity in hormone-sensitive cancer treatments.
Polymorphism in the aromatase gene (CYP19A1) associated with circulating estradiol levels and bone mineral density.