AURKC rs1057519742: Understanding Genetic Links to Male Infertility
The rs1057519742 variant is a genetic change located within the AURKC gene. It is associated with a rare form of male infertility characterized by the production of large-headed, multi-flagellar spermatozoa that are unable to fertilize an egg.
What each genotype means
Typical AURKC function
This genotype represents the typical, functional version of the AURKC gene. Individuals with this profile do not carry the specific deletion associated with macrozoospermia and spermatogenic failure.
This is the most common genotype found in the general population across all ancestries.
Carrier of AURKC variant
You carry one copy of the AURKC deletion (often referred to as c.144delC or c.145del) and one typical copy. Research indicates this is an autosomal recessive condition, meaning carriers typically do not experience infertility symptoms, but they may pass the variant to their biological children.
This carrier state is found at a higher frequency in populations of North African ancestry compared to other global populations.
Increased risk of infertility
This genotype involves two copies of the AURKC deletion, which is associated with spermatogenic failure and macrozoospermia. This condition causes the production of large-headed, multiflagellar, polyploid sperm, which typically results in primary male infertility. Please consult with a reproductive specialist or genetic counselor to discuss these findings.
This genotype is extremely rare in the general population, though it has been identified in individuals of North African descent.
What is the rs1057519742 Variant?
The rs1057519742 variant is a specific alteration in the DNA sequence of the AURKC gene. In genetics, a variant like this represents a change from the typical sequence found in the majority of the human population. This particular variant is categorized as a pathogenic mutation in the context of reproductive health. It sits within the coding region of the AURKC gene, which provides the blueprint for the Aurora Kinase C protein. When this variant is present, it can disrupt the normal production or function of this protein. Because this variant is extremely rare in the general population, it is primarily studied in the context of clinical research involving individuals experiencing specific types of infertility. Understanding where this variant sits helps researchers determine how it interferes with the complex biological processes required for healthy sperm development.
The Role of the AURKC Gene
The AURKC gene is responsible for producing the Aurora Kinase C protein, which plays a critical role in cell division, specifically during meiosis. Meiosis is the specialized process that creates sperm and egg cells, ensuring they contain the correct amount of genetic material. In the testes, Aurora Kinase C is essential for the successful completion of meiotic division. When the gene is functioning correctly, it helps regulate the separation of chromosomes and the division of the cell. If the AURKC protein is absent or non-functional due to a genetic variant, the cell division process is interrupted. This failure leads to the production of spermatozoa that are tetraploid, meaning they contain double the normal amount of DNA. These cells often exhibit a distinct morphology, such as having a large head and multiple flagella, which renders them incapable of successful fertilization.
Research and Clinical Associations
Scientific research has established a strong link between mutations in the AURKC gene and a condition known as macrozoospermia. Studies have shown that men who are homozygous for certain AURKC mutations—meaning they carry two copies of the variant—frequently present with nearly 100% large-headed, multi-tailed sperm. The evidence for this association is well-documented in clinical literature, particularly among cohorts of North African descent. However, it is important to note that while the link between these mutations and this specific infertility phenotype is clear, the evidence strength for other potential health impacts remains limited. Researchers emphasize that identifying these mutations is clinically significant because it helps explain the underlying cause of infertility and informs reproductive choices. If you or a partner are concerned about fertility, it is essential to consult with a reproductive endocrinologist or a genetic counselor who can provide personalized guidance based on clinical testing.
Population Frequency and Distribution
The rs1057519742 variant is considered extremely rare in the global population, with a frequency of less than 0.0001 in large databases like gnomAD. However, its distribution is not uniform across all ancestries. Research has identified that AURKC mutations are notably more frequent in populations with North African ancestry, particularly in countries like Algeria and Morocco. In these specific groups, the carrier frequency has been estimated to be as high as 1 in 50. This makes AURKC-related defects a significant genetic cause of male infertility in these regions, sometimes exceeding the frequency of other known genetic causes like Y-chromosome microdeletions. Because the variant is so rare elsewhere, it is often overlooked in standard genetic screenings unless there is a specific clinical indication, such as the presence of macrozoospermia in a semen analysis.
Navigating Genetic Information
If you have received information about this variant, it is important to understand what you can and cannot do with it. This information is intended for educational purposes and should never be used to self-diagnose or make medical decisions. Genetic variants are complex, and their presence does not always guarantee a specific health outcome. If you are concerned about fertility, the most important step is to speak with a healthcare professional. They can order appropriate clinical-grade testing, interpret the results in the context of your personal and family history, and discuss potential reproductive options. Do not attempt to interpret your own genetic data for medical purposes. Always rely on the expertise of a clinician or a certified genetic counselor to guide you through the implications of any genetic findings and to discuss the best path forward for your reproductive health.
How common is this variant?
The variant is extremely rare in the general population (<0.0001 in gnomAD) but shows higher prevalence in populations with North African ancestry.
Frequently asked questions
Can AURKC mutations be treated?
Currently, there is no medical treatment to correct the underlying genetic defect in the AURKC gene. For men with this condition, assisted reproductive technologies like ICSI are generally not recommended because the sperm produced are chromosomally abnormal.
Does this variant affect female fertility?
Research suggests that AURKC is not essential for oogenesis in females. Studies have identified fertile women who are homozygous for AURKC mutations, indicating that the gene's function in female reproduction differs from its role in male spermatogenesis.
How is this variant diagnosed?
Diagnosis typically begins with a semen analysis showing macrozoospermia. If this phenotype is observed, a clinician may order molecular genetic testing to sequence the AURKC gene and identify specific mutations.
Is this the only cause of macrozoospermia?
While AURKC mutations are a leading genetic cause of macrozoospermia, other genes may also be involved. Genetic heterogeneity means that different mutations can lead to similar clinical presentations.
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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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.
A nonsense mutation in AURKC causing macrozoospermia and male infertility.