FSHR rs386833513: Understanding This Rare Genetic Variant
The rs386833513 variant is a rare genetic change located within the FSHR gene, which encodes the receptor for follicle-stimulating hormone. This gene is essential for reproductive development, and variants in this region are sometimes studied for their potential links to hormonal regulation and ovarian function.
What each genotype means
Typical FSHR gene profile
This is the common, reference genotype for this location in the FSHR gene. It is not associated with the specific pathogenic effects linked to ovarian dysgenesis type 1.
This is the most common genotype found in the general population.
Carrier of rare variant
You carry one copy of the rare G allele, which is classified as potentially pathogenic in clinical databases. Because this condition typically follows an autosomal recessive inheritance pattern, carrying a single copy may not result in clinical symptoms, though it is important to discuss reproductive health history with a specialist.
This genotype is rare in the general population.
Associated with ovarian dysgenesis
This genotype is associated with ovarian dysgenesis type 1, a condition that can affect hormonal regulation and sexual maturation. Research indicates this variant may lead to FSH resistance, which can impact follicular development and fertility. Please consult with a reproductive endocrinologist or genetic counselor to understand what this means for your specific health context.
This genotype is very rare and is primarily identified in clinical settings related to ovarian dysgenesis.
What is rs386833513?
The identifier rs386833513 refers to a specific single nucleotide polymorphism (SNP) located within the FSHR gene on chromosome 2. In genomics, a SNP represents a variation at a single position in the DNA sequence among individuals. This particular variant is cataloged in public databases as a rare change, meaning it is not commonly found in the general population. Because it sits within the FSHR gene, researchers are interested in whether this specific change might alter the structure or function of the protein it encodes. It is important to note that the presence of a rare variant does not automatically imply a health impact; many such variations are benign and have no observable effect on physical traits or biological processes. Scientists use these identifiers to track specific locations in the human genome to better understand how genetic diversity contributes to human health and development.
The Role of the FSHR Gene
The FSHR gene provides instructions for making the follicle-stimulating hormone receptor, a protein that sits on the surface of certain cells, particularly in the ovaries and testes. This receptor is a member of the G-protein coupled receptor family and is critical for the body's response to follicle-stimulating hormone (FSH). FSH is a key hormone that regulates the development, growth, and maturation of reproductive cells. In females, it is essential for the development of ovarian follicles, which contain eggs. In males, it plays a role in the production of sperm. Because the FSHR gene is so central to reproductive signaling, mutations that significantly disrupt its function can lead to conditions such as ovarian dysgenesis, where the ovaries do not develop properly. Understanding how the receptor functions helps researchers identify why certain hormonal pathways might be affected in individuals with specific genetic profiles.
Research and Evidence Strength
The evidence linking rs386833513 to specific clinical outcomes is currently classified as limited. While the FSHR gene itself is well-documented in medical literature for its role in reproductive health, not every variant within the gene has a known functional consequence. Many variants identified in large-scale genomic studies are considered 'variants of uncertain significance' until further research can confirm their impact. Current scientific literature often focuses on more common FSHR polymorphisms, such as those affecting amino acid positions 307 and 680, which have been studied for their potential influence on ovarian response to hormones. For rare variants like rs386833513, there is often insufficient data to draw definitive conclusions about their role in human health. It is essential to distinguish between the well-established functions of the FSHR gene and the unproven effects of specific, rare individual SNPs.
Population Frequency
The rs386833513 variant is characterized as rare across global populations. In genetic research, a variant is typically considered rare if it appears in a very small percentage of the population. Because it is rare, it is not frequently observed in large-scale reference datasets like gnomAD, which aggregate genetic information from diverse groups of people. This low frequency makes it challenging for researchers to conduct large-scale statistical studies to determine if the variant has any meaningful association with physical traits or health conditions. When a variant is this uncommon, it is often difficult to distinguish its effects from the background noise of other genetic variations present in an individual's genome. Consequently, most information regarding this specific SNP remains preliminary, and it is not currently used as a standard marker in clinical genetic testing.
Interpreting Your Genetic Information
If you have encountered this variant in a personal genetic report, it is important to approach the information with perspective. Most rare variants identified in consumer or research-grade sequencing do not have a direct, predictable impact on your health or appearance. Genetic associations are often complex, involving the interaction of many different genes, environmental factors, and lifestyle choices. You cannot diagnose a condition or predict a health outcome based on a single SNP. If you have concerns about your reproductive health, hormonal balance, or physical development, the most appropriate step is to consult with a qualified healthcare provider or a genetic counselor. They can help you interpret your results in the context of your personal and family medical history. Avoid making medical decisions based on raw genetic data, and always discuss any questions about your health with a professional who can provide personalized guidance.
How common is this variant?
The rs386833513 variant is considered rare, with a very low frequency observed across global populations in major genomic databases.
Frequently asked questions
Is rs386833513 a cause of infertility?
There is no evidence to suggest that this specific variant causes infertility. While the FSHR gene is involved in reproduction, most rare variants have no known impact on fertility.
Should I be worried if I have this variant?
No, you should not be worried. Most rare genetic variants are benign, and having one does not mean you have a medical condition or will develop one.
Can I use this information to change my diet or lifestyle?
Genetic information regarding this variant is not actionable for lifestyle or dietary changes. You should focus on general health practices recommended by your doctor.
Where can I get more information about my FSHR gene?
You can speak with a genetic counselor or your primary care physician. They can help you understand your genetic report and address any specific health concerns you may have.
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 associated with ovarian dysgenesis, which can impact secondary sexual characteristics and physical development.
Common missense variant (Thr307Ala) in the follicle-stimulating hormone receptor gene that regulates ovarian response to gonadotropin stimulation during reproductive cycles.
FSHR intronic variant associated with ovarian response to follicle-stimulating hormone stimulation in assisted reproductive technology.
Inactivating mutation in the follicle-stimulating hormone receptor associated with premature ovarian failure type 7.
Loss-of-function missense variant in FSHR causing ovarian hypergonadotropic hypogonadism and ovarian dysgenesis.
Variant in the follicle stimulating hormone receptor gene associated with altered ovarian response and exogenous gonadotropin requirements in controlled ovarian stimulation.