TEX11 rs138678252: Understanding This Rare Genetic Variant
The rs138678252 variant is a rare genetic change located within the TEX11 gene on the X chromosome. Research associates certain mutations in this gene with non-obstructive azoospermia, a condition characterized by the absence of sperm in the ejaculate due to disruptions in the meiotic process.
What each genotype means
Typical TEX11 profile
This genotype represents the common, wild-type sequence for the TEX11 gene. Research indicates that this sequence supports normal meiotic function and spermatogenesis in males.
This is the most common genotype observed in the general population.
Heterozygous carrier status
Because TEX11 is located on the X chromosome, this genotype is typically only observed in females. As a carrier, you generally do not exhibit the infertility phenotypes associated with this gene, though clinical significance for female carriers remains an area of ongoing research.
This genotype is very rare, consistent with the overall low allele frequency of this variant in global populations.
Potential spermatogenic impact
This genotype represents the presence of the variant on the X chromosome. In males, who have only one X chromosome, this variant is associated with an increased risk of non-obstructive azoospermia due to disrupted meiotic chromosomal synapsis. If you are concerned about fertility, please discuss these findings with a reproductive endocrinologist or genetic counselor.
This genotype is extremely rare, with the variant allele frequency reported as less than 0.0001 in large-scale population databases like gnomAD.
What is rs138678252?
The rs138678252 variant is a specific single nucleotide polymorphism (SNP) found within the TEX11 gene. In genetics, a SNP represents a variation at a single position in the DNA sequence. Because the TEX11 gene is located on the X chromosome, the inheritance and expression of this variant differ between biological sexes. Males have only one X chromosome, meaning they are hemizygous for X-linked genes; they do not have a second copy of the gene to compensate if a variant disrupts normal function. This variant is classified as a missense mutation, meaning the change in the DNA sequence results in a different amino acid being incorporated into the protein structure. Scientists study such variants to understand how minor changes in the genetic code can influence complex biological processes like spermatogenesis.
The Role of the TEX11 Gene
The TEX11 gene, which stands for 'testis-expressed gene 11,' plays a critical role in male reproductive biology. It encodes a protein that is essential for meiosis, the specialized type of cell division that produces sperm cells. Specifically, the TEX11 protein is involved in chromosomal synapsis—the process where homologous chromosomes pair up—and meiotic recombination, where genetic material is exchanged between chromosomes. These steps are vital for ensuring that sperm cells receive the correct amount of genetic information. Research in animal models has demonstrated that when the TEX11 gene is non-functional, it leads to meiotic arrest, a state where sperm development stops prematurely. This arrest prevents the formation of mature sperm, ultimately resulting in azoospermia.
Research and Evidence Strength
Scientific literature has established a strong link between loss-of-function mutations in TEX11 and non-obstructive azoospermia in human males. Studies have identified various pathogenic variants in this gene among men diagnosed with meiotic arrest. However, the evidence for any specific individual variant, such as rs138678252, can be complex. While the gene itself is a known contributor to male infertility, not every variant within the gene is necessarily pathogenic. The evidence strength for specific rare variants is often limited, requiring careful clinical interpretation. Researchers continue to investigate how different mutations affect the protein's ability to interact with other components of the synaptonemal complex. Because this is an area of active research, findings are subject to updates as more data becomes available through large-scale genomic studies.
Population Frequency
The rs138678252 variant is considered very rare in the general population. According to data from the Genome Aggregation Database (gnomAD), the allele frequency is extremely low, typically reported as less than 0.0001. This rarity is consistent with the clinical observation that severe, early-onset reproductive conditions often involve rare genetic variants that are not commonly passed down through generations. Because the variant is so infrequent, it is not typically included in standard population-wide screening panels. Its presence is usually only identified through specialized genetic testing or research-focused sequencing efforts aimed at understanding the underlying causes of male infertility in clinical settings.
What This Information Means for You
If you have encountered this variant in a genetic report, it is important to understand that genetic information is complex and should not be used for self-diagnosis. The presence of a variant in the TEX11 gene does not automatically guarantee a specific health outcome, as many factors contribute to reproductive health. If you are concerned about fertility or genetic findings, the most appropriate step is to consult with a reproductive endocrinologist, a urologist specializing in male infertility, or a certified genetic counselor. These professionals can provide context based on your personal medical history, physical examinations, and other diagnostic tests. They are equipped to interpret how specific genetic findings relate to your health and can guide you through appropriate clinical options or further testing if necessary.
How common is this variant?
The rs138678252 variant is very rare, with a gnomAD allele frequency of less than 0.0001 across major ancestral populations.
Frequently asked questions
Is the TEX11 gene linked to male infertility?
Yes, research has shown that certain mutations in the TEX11 gene are associated with non-obstructive azoospermia. The gene is essential for proper sperm development, and its dysfunction can lead to meiotic arrest.
Can I be tested for the rs138678252 variant?
While it is technically possible to sequence the TEX11 gene, this is typically done in a clinical setting to investigate the cause of infertility. You should discuss the necessity and implications of such testing with a fertility specialist.
Does having this variant mean I am infertile?
Not necessarily. Genetic variants are only one piece of the puzzle regarding reproductive health. A clinical diagnosis of infertility requires a comprehensive evaluation by a medical professional.
Is this variant inherited?
Yes, as a genetic variant, it is inherited. Because it is located on the X chromosome, the pattern of inheritance follows X-linked transmission, which affects males and females differently.
Sources & further reading
Educational information only, last refreshed 10/17/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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