CATSPER1 rs34562447: Understanding This Rare Genetic Variant
The rs34562447 variant is a rare genetic alteration located within the CATSPER1 gene. It is associated with potential impacts on sperm motility and has been studied in the context of nonsyndromic male infertility.
What each genotype means
Typical sperm motility
You carry two reference copies of the CATSPER1 gene at this position. This genotype is associated with normal expression and assembly of the CatSper calcium channel complex in sperm flagella. Studies show individuals with this standard genotype have typical baseline reproductive potential regarding CatSper-mediated sperm hyperactivation.
Carried by more than 99.9% of individuals across all major global ancestries.
Carrier of loss-of-function variant
You carry one copy of the pathogenic CATSPER1 loss-of-function allele alongside one normal allele. In published medical genetics literature, CATSPER1-associated asthenoteratozoospermia and spermatogenic failure 7 follow an autosomal recessive inheritance pattern, meaning heterozygous carriers typically maintain adequate functional CatSper channels and do not display fertility impairment. However, carrier status implies the variant can be passed down to offspring.
Extremely rare; found in fewer than 1 in 10,000 individuals across global populations in gnomAD (MAF < 0.00005).
Impaired sperm hyperactivation
You carry two copies of the pathogenic CATSPER1 alteration. Biallelic loss of functional CATSPER1 is associated with autosomal recessive spermatogenic failure 7, characterized by severe asthenoteratozoospermia due to lack of calcium-mediated sperm hyperactivated motility. In females, this genotype has not been linked to physiological abnormalities, as CATSPER1 expression is specific to the male germline.
Exceptionally rare globally, typically documented only in isolated consanguineous pedigrees or clinical case reports.
What is rs34562447?
The rs34562447 variant is a specific change in the DNA sequence of the CATSPER1 gene, which is located on chromosome 11 at position 11q13.1. In genomics, an rsID (reference SNP identification number) like rs34562447 serves as a unique label for a specific location in the human genome where a variation may occur. This particular variant is categorized as a trait-associated alteration. Because it is extremely rare, it is not a common variation found in the general population. Geneticists study such variants to understand how specific changes in the DNA code can influence biological processes, particularly those related to reproductive health. It is important to note that the presence of a variant does not automatically imply a health condition, as many factors, including other genes and environmental influences, contribute to complex biological traits.
The Role of the CATSPER1 Gene
The CATSPER1 gene provides the instructions for creating a protein that is a critical component of the CatSper channel complex. This complex acts as a specialized calcium-permeable ion channel found exclusively in the flagellum, or tail, of sperm cells. Calcium signaling is essential for regulating sperm motility, which is the ability of sperm to move effectively. Specifically, the CatSper channel is required for sperm hyperactivation—a vigorous swimming pattern necessary for the sperm to penetrate the outer membrane of an egg during fertilization. When the CATSPER1 protein is absent or non-functional, sperm cells often exhibit decreased motility and struggle to move with the speed and coordination required for successful fertilization. This makes the gene a focal point for research into the molecular mechanisms of male fertility.
Research and Evidence Strength
Research into CATSPER1 variants is primarily focused on their role in nonsyndromic male infertility, specifically conditions like asthenoteratozoospermia, where sperm have reduced motility and abnormal morphology. Scientific literature has documented that certain pathogenic, often homozygous, mutations in this gene can lead to impaired sperm hyperactivation. However, the evidence strength for the specific variant rs34562447 remains limited. While some variants in CATSPER1 are well-characterized as causing infertility, not every variant identified in the gene has the same functional impact. Much of the current research relies on small, often consanguineous family studies to establish these links. Because the evidence is limited, it is difficult to draw broad conclusions about the clinical significance of this specific variant for the general population. Further large-scale studies are required to clarify its exact role and impact.
Population Frequency
The rs34562447 variant is classified as extremely rare across all major continental ancestral groups. According to data from large-scale genomic databases like gnomAD, the minor allele frequency (MAF) is consistently reported as less than 0.00005. This means that the vast majority of the human population does not carry this specific variant. Because it is so uncommon, it is rarely encountered in standard genetic screening or population-wide studies. Its rarity is consistent with many variants that have significant impacts on reproductive fitness, as such variants are often subject to strong selective pressure. For most individuals, the likelihood of carrying this variant is statistically negligible.
What This Information Means for You
If you have encountered this variant in a genetic report, it is important to understand that this information is for educational purposes only. Genetic variants are complex, and their presence does not constitute a medical diagnosis. 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 urologist specializing in male infertility. They can provide context based on your personal health history, physical examinations, and clinical testing. Do not use genetic data to make assumptions about your health or to guide medical decisions without professional guidance. A clinician can help interpret whether any genetic findings are relevant to your specific situation and discuss appropriate next steps.
How common is this variant?
The rs34562447 variant is extremely rare across all continental ancestral groups, with a minor allele frequency (MAF) of less than 0.00005 in gnomAD.
Frequently asked questions
What is the CATSPER1 gene?
The CATSPER1 gene encodes a protein that forms a calcium channel in the tail of sperm cells. This channel is essential for sperm motility and the ability to fertilize an egg.
Can this variant cause infertility?
Some variants in the CATSPER1 gene are linked to male infertility, but the evidence for rs34562447 specifically is limited. You should consult a fertility specialist to discuss any concerns regarding reproductive health.
How common is the rs34562447 variant?
This variant is extremely rare, appearing in less than 0.00005 of the population. It is not a common genetic variation.
Should I be worried if I have this variant?
Genetic variants are only one piece of a complex health puzzle. If you have concerns, speak with a healthcare provider who can interpret your results in the context of your overall health.
Sources & further reading
Educational information only, last refreshed 10/12/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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