FSHR rs386833511: Understanding This Rare Genetic Variant
The rs386833511 variant is a rare genetic change located within the FSHR gene. It has been identified in research contexts as a potential factor associated with ovarian dysgenesis, a condition affecting reproductive development.
What each genotype means
Typical FSHR receptor function
This is the most common genotype observed in the general population. It is considered the reference sequence for the FSHR gene, which encodes the receptor for follicle-stimulating hormone involved in gonad development.
This is the most frequent genotype found across global populations.
Carrier of rare variant
You carry one copy of the T allele, which has been identified in clinical databases as potentially associated with ovarian dysgenesis type 1. Because this condition typically follows a biallelic (recessive) inheritance pattern, carrying a single copy is generally not expected to cause the clinical phenotype, though research on this specific variant remains limited.
This genotype is rare in the general population.
Potential clinical significance
This genotype involves two copies of the T allele, which is classified in clinical databases as potentially pathogenic for ovarian dysgenesis type 1. If you have concerns regarding reproductive health or development, please consult with a medical geneticist or reproductive specialist to discuss these findings in the context of your personal health history.
This genotype is extremely rare in the general population.
What is rs386833511 and Where is it Located?
The identifier rs386833511 refers to a specific single nucleotide polymorphism (SNP) found within the human genome. It is situated on chromosome 2 at position 48,963,097 (GRCh38). This variant occurs within the FSHR gene, which provides instructions for creating the follicle-stimulating hormone receptor. In the context of genetic variation, a SNP represents a change in a single "letter" of the DNA sequence. While many SNPs are common and have no impact on health, others are rare and may alter how a protein functions. Because rs386833511 is classified as a rare variant, it is not typically found in the general population at high frequencies. Researchers study such variants to understand how specific changes in the DNA code might influence biological processes, particularly those related to the endocrine and reproductive systems.
The Role of the FSHR Gene
The FSHR gene encodes the follicle-stimulating hormone receptor, a protein that belongs to the G-protein coupled receptor family. This receptor is primarily found on the surface of cells in the ovaries and testes. Its main function is to receive signals from the follicle-stimulating hormone (FSH), which is essential for normal reproductive development and function. In females, this signaling pathway is critical for the growth and maturation of ovarian follicles, which contain eggs. In males, it plays a key role in spermatogenesis. Because the receptor acts as a gatekeeper for these hormonal signals, any significant disruption to the gene's structure can potentially impair the body's ability to respond to FSH. This can lead to various reproductive health challenges, as the signaling pathway is fundamental to the development of secondary sexual characteristics and fertility.
Research Associations and Evidence Strength
Current scientific literature and clinical databases, such as ClinVar, have linked the rs386833511 variant to ovarian dysgenesis type 1. Ovarian dysgenesis is a condition where the ovaries do not develop properly, which can lead to primary amenorrhea and other reproductive health issues. It is important to note that the evidence strength for this specific variant is currently considered limited. While some studies have identified this variant in individuals with reproductive disorders, the overall body of research is still evolving. Genetic associations are complex, and the presence of a variant does not automatically guarantee a specific health outcome. Because the variant is rare, large-scale studies are difficult to conduct, which contributes to the current uncertainty regarding its exact clinical impact. Researchers continue to investigate how such variants interact with other genetic and environmental factors to influence human health.
Population Frequency
The rs386833511 variant is documented as a rare finding in human populations. Because it is not a common polymorphism, it is not typically observed in the vast majority of individuals. Rare variants are often studied in the context of specific families or clinical cohorts where a particular condition, such as ovarian dysgenesis, has been diagnosed. Due to its rarity, population-wide frequency data is limited, and it is not a variant that would be expected in a typical screening of the general population.
What You Can and Cannot Do With This Information
If you have received information about this variant, it is important to understand its limitations. Genetic information is complex and should never be used to self-diagnose or make medical decisions. Because the evidence for rs386833511 is limited, its presence does not provide a definitive clinical prognosis. If you are concerned about reproductive health or genetic findings, the most appropriate step is to consult with a qualified healthcare provider, such as a genetic counselor or a reproductive endocrinologist. These professionals can help interpret genetic results within the context of your personal and family medical history. They can provide guidance on whether further testing is necessary and discuss what the findings mean for your specific situation. Always rely on clinical evaluation rather than isolated genetic data when making decisions about your health.
How common is this variant?
The rs386833511 variant is considered rare across all major ancestral populations, with no significant frequency observed in the general public.
Frequently asked questions
What is ovarian dysgenesis?
Ovarian dysgenesis is a condition where the ovaries do not develop normally. This can lead to issues with puberty, menstruation, and fertility.
Does having this variant mean I have a medical condition?
No. Genetic variants are only one piece of a complex puzzle. A clinical diagnosis requires a physical examination and medical history review by a doctor.
Where can I learn more about FSHR?
You can visit resources like MedlinePlus Genetics or the NCBI Gene database for comprehensive, peer-reviewed information on the FSHR gene.
Should I be worried if I have this variant?
Genetic findings should be discussed with a healthcare professional. They can help you understand the significance of the result based on your personal health history.
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 linked to ovarian dysgenesis, potentially affecting hormonal regulation and physical appearance related to sexual maturation.
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.