FKBPL rs200847762: Understanding Reproductive Genetic Variants
The rs200847762 variant is a rare genetic change located within the FKBPL gene. It has been identified in research contexts as having a potential association with non-obstructive azoospermia, a condition characterized by the absence of sperm in the ejaculate due to impaired spermatogenesis.
What each genotype means
Typical genetic profile
This genotype represents the most common sequence found in the general population for this location in the FKBPL gene. There is no evidence suggesting this specific genetic configuration contributes to an increased risk of non-obstructive azoospermia.
This is the most frequent genotype observed across all major global populations.
Rare variant carrier
You carry one copy of the rare G allele at this position. While this variant has been cataloged in association with risks for non-obstructive azoospermia, current scientific evidence is limited and does not confirm a direct causative role for this specific genotype in reproductive health outcomes.
This genotype is rare, occurring in less than 0.5% of the general population.
Rare homozygous variant
You carry two copies of the rare G allele. Research into this variant suggests a potential link to non-obstructive azoospermia and impaired spermatogenesis, though the clinical significance remains under investigation. If you are concerned about fertility, please consult with a reproductive endocrinologist or genetic counselor to discuss your specific health context.
This genotype is extremely rare, found in a very small fraction of the population.
What is rs200847762?
The identifier rs200847762 refers to a specific single nucleotide polymorphism (SNP) located in the human genome. In genetics, a SNP represents a variation at a single position in a DNA sequence among individuals. This particular variant is situated within the FKBPL gene, which stands for FK506 binding protein like. Geneticists study such variants to understand how minor changes in our DNA sequence might influence biological processes. Because rs200847762 is classified as a rare variant, it is not found in the vast majority of the human population. Researchers often use large-scale databases like gnomAD to determine the frequency of such variants, which helps in assessing whether a specific change is common or potentially linked to rare clinical conditions.
The Role of the FKBPL Gene
The FKBPL gene provides instructions for producing a protein that plays a role in various cellular processes, including cell cycle regulation and stress response. While the exact mechanisms by which FKBPL influences reproductive health are still being investigated, genes involved in spermatogenesis—the process by which sperm cells develop—are critical for male fertility. Disruptions in the genes that regulate the complex stages of meiosis and germ cell development can lead to spermatogenic failure. Research into FKBPL is part of a broader effort to map the genetic landscape of male infertility. By identifying genes that are expressed in testicular tissue, scientists aim to better understand the molecular basis of conditions like non-obstructive azoospermia, where the body is unable to produce sufficient sperm.
Research and Evidence Strength
The association between rs200847762 and non-obstructive azoospermia is currently supported by moderate evidence. In the field of reproductive genetics, non-obstructive azoospermia is a complex, multifactorial condition, meaning it can be caused by a combination of genetic, environmental, and lifestyle factors. While some studies have highlighted this variant in the context of reproductive health, it is important to note that the presence of a genetic variant does not guarantee a clinical diagnosis. Genetic research in this area often involves comparing the DNA of individuals with infertility to those without to identify statistical correlations. Because infertility is heterogeneous, findings can vary between different populations and study cohorts. Further functional studies are typically required to confirm how specific variants like rs200847762 might biologically impact sperm production.
Interpreting Your Genetic Information
If you have encountered this variant in a genetic report, it is essential to understand that this information is for educational purposes and does not constitute a medical diagnosis. Genetic variants are only one piece of a very large puzzle regarding human health and fertility. You cannot use this information to predict reproductive outcomes or to make medical decisions on your own. If you have concerns about fertility or reproductive health, the most appropriate step is to consult with a qualified healthcare provider, such as a reproductive endocrinologist or a genetic counselor. These professionals can interpret genetic findings within the context of your personal and family medical history, perform necessary clinical evaluations, and discuss appropriate testing or management options tailored to your specific situation.
How common is this variant?
The rs200847762 variant is considered rare, with a minor allele frequency (MAF) of less than 0.5% across most global populations.
Frequently asked questions
What is non-obstructive azoospermia?
Non-obstructive azoospermia is a condition where there is a complete absence of sperm in the ejaculate due to a failure in the production of sperm within the testes. It is considered the most severe form of male factor infertility.
Does having this variant mean I am infertile?
No, having a specific genetic variant does not automatically mean you are infertile. Genetic associations are statistical observations, and many factors contribute to reproductive health; you should consult a fertility specialist for a clinical assessment.
Where can I find more information on FKBPL?
You can search for the FKBPL gene on resources like the NCBI Gene database or MedlinePlus Genetics to learn more about its known biological functions and associated research.
Should I get tested for this variant?
Routine testing for specific rare variants is generally not recommended unless there is a specific clinical indication. Discuss any concerns about genetic testing with a healthcare provider or a genetic counselor.
Sources & further reading
Educational information only, last refreshed 10/8/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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