AURKC rs150898516: Understanding This Reproductive Genetic Variant
The rs150898516 variant is a genetic change located within the AURKC gene, which provides instructions for making a protein essential for sperm cell division. This variant is associated with macrozoospermia, a condition characterized by abnormal, large-headed, and polyploid sperm that can lead to severe male infertility.
What each genotype means
Typical AURKC function
This genotype represents the standard sequence for the AURKC gene. Individuals with this profile produce functional Aurora kinase C protein, which is necessary for normal male meiotic cytokinesis during sperm development.
This is the most common genotype found globally across all populations.
Carrier of infertility variant
You carry one copy of the c.144delC mutation, which is a known cause of macrozoospermia when inherited in two copies. As a carrier, you typically do not experience the associated infertility, as the functional copy of the gene is sufficient for normal sperm production.
This genotype is found in approximately 1 in 50 individuals in the Maghrebian (North African) population, where the mutation is most prevalent.
Associated with male infertility
This genotype results in the production of a truncated, nonfunctional protein, which disrupts cell division during sperm formation. Research indicates this is a frequent cause of macrozoospermia and severe male infertility in affected individuals, though it does not impair female fertility.
This genotype is rare globally but is observed more frequently in North African populations due to a founder effect.
What is the rs150898516 Variant?
The rs150898516 variant is a specific change in the DNA sequence of the AURKC gene. In genetics, a variant represents a difference in the sequence of nucleotides—the building blocks of DNA—compared to the most common sequence found in the general population. This particular variant is classified as a nonsense mutation, which means it introduces a premature stop signal in the genetic code. This signal tells the cell to stop building the protein before it is finished, often resulting in a truncated, non-functional, or unstable protein. Because this variant affects the coding region of the gene, it has the potential to significantly alter the biological function of the resulting protein, which is why it is a subject of interest in reproductive genetics research.
The Role of the AURKC Gene
The AURKC gene encodes the Aurora Kinase C protein, which plays a critical role during meiosis, the specialized type of cell division that produces sperm and egg cells. During the formation of sperm, Aurora Kinase C helps ensure that chromosomes are correctly separated and distributed into new cells. When this protein is absent or non-functional, the cell division process is disrupted. Specifically, the chromosomes fail to divide properly, leading to the production of spermatozoa that are polyploid—meaning they contain too many sets of chromosomes—and often possess large, abnormal heads and multiple flagella. These structural and chromosomal abnormalities render the sperm incapable of successful fertilization, which is the underlying mechanism for the infertility associated with mutations in this gene.
Research and Clinical Associations
Scientific research has linked mutations in the AURKC gene, including those that result in nonsense or frameshift changes, to a condition known as macrozoospermia, or spermatogenic failure-5. The evidence for this association is primarily derived from clinical studies of individuals experiencing male infertility. While the link between specific AURKC mutations and macrozoospermia is well-documented in the literature, the evidence strength for any single variant can vary based on the number of reported cases and functional validation studies. It is important to note that this condition is typically inherited in an autosomal recessive pattern, meaning an individual must usually inherit two copies of a pathogenic variant—one from each parent—to manifest the clinical symptoms. Clinical testing for this gene is available, and individuals concerned about fertility should consult with a reproductive endocrinologist or a genetic counselor.
Population Frequency and Distribution
The frequency of the rs150898516 variant is relatively low in the global population, with gnomAD data indicating a global allele frequency of approximately 0.0008. However, genetic variants are rarely distributed evenly across all human populations. Research has noted that certain AURKC mutations are more frequently identified in specific ancestral groups, particularly within North African populations. This enrichment is a common phenomenon in human genetics, often reflecting historical population dynamics or founder effects. Because the variant is rare, most individuals in the general population do not carry it. Understanding these frequency patterns is essential for researchers studying the prevalence of genetic infertility and for clinicians interpreting genetic test results within the context of a patient's specific ancestral background.
Navigating Genetic Information
Information about genetic variants like rs150898516 is intended for educational purposes and should not be used to self-diagnose or make medical decisions. If you have received a report indicating the presence of this variant, it is crucial to discuss the findings with a qualified healthcare professional, such as a genetic counselor or a fertility specialist. They can provide context regarding your specific results, explain the implications of your genotype, and discuss potential reproductive options or further testing. Genetic information is complex, and the presence of a variant does not always guarantee a specific clinical outcome. Always rely on professional medical guidance rather than online databases when interpreting your personal genetic data, as clinical management requires a comprehensive evaluation of your medical history and physical health.
How common is this variant?
The rs150898516 variant has a global allele frequency of approximately 0.0008 in gnomAD, with notable enrichment observed in North African populations.
Frequently asked questions
What is macrozoospermia?
Macrozoospermia is a rare form of male infertility where sperm cells have abnormally large heads and multiple tails. These sperm are polyploid, meaning they have an incorrect number of chromosomes, which prevents them from successfully fertilizing an egg.
Is rs150898516 the only cause of male infertility?
No, male infertility is a complex condition that can be caused by many different genetic, environmental, and lifestyle factors. The AURKC variant is only one of many potential genetic contributors to specific types of spermatogenic failure.
Can I be tested for this variant?
Yes, clinical genetic testing for AURKC mutations is available through specialized laboratories. If you are concerned about fertility, you should speak with a reproductive specialist who can order appropriate testing and interpret the results.
What does it mean if I am a carrier?
Being a carrier means you have one copy of the variant but do not have the condition yourself. Because this condition is autosomal recessive, carriers typically do not experience infertility related to this specific gene.
Sources & further reading
Educational information only, last refreshed 9/17/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Recessive nonsense variant causing macrozoospermia, polyploidy, and primary male factor infertility.
Loss-of-function variation in aurora kinase C causing macrozoospermia, polyploidy in spermatozoa, and primary male factor infertility.
Pathogenic variant in AURKC causing complete failure of meiotic division during spermatogenesis, leading to large-headed multiflagellar spermatozoa and primary male infertility.