CFTR rs397514717: Understanding Reproductive Genetic Variants
The rs397514717 variant is a genetic alteration located within the CFTR gene, which is primarily known for its role in cystic fibrosis. This specific variant is associated with congenital bilateral absence of the vas deferens (CBAVD), a condition that leads to obstructive azoospermia and male infertility.
What each genotype means
Typical CFTR function
This genotype represents the common, non-altered version of the CFTR gene at this specific location. Individuals with this profile do not carry the splice-altering variant associated with congenital bilateral absence of the vas deferens (CBAVD).
This is the most common genotype found in the general population across all ancestries.
Carrier of splice-altering variant
You carry one copy of the rs397514717 variant, which is known to alter how the CFTR gene is processed. While carriers are typically asymptomatic, this variant is associated with an increased risk of congenital bilateral absence of the vas deferens (CBAVD) and obstructive azoospermia, particularly if inherited alongside another CFTR-related mutation. Please consult with a genetic counselor or reproductive specialist to understand your specific reproductive health implications.
This genotype is rare, with a minor allele frequency of approximately 0.001 in European populations according to gnomAD data.
Increased risk of CBAVD
You carry two copies of this splice-altering variant, which may significantly impact the function of the CFTR protein. This genotype is linked to a higher likelihood of congenital bilateral absence of the vas deferens (CBAVD) and obstructive azoospermia. Because CFTR-related conditions can have variable clinical presentations, you should discuss these findings with a reproductive health specialist or a medical geneticist.
This genotype is extremely rare in the general population.
What is the rs397514717 Variant?
The rs397514717 variant is a specific genetic change found within the CFTR (cystic fibrosis transmembrane conductance regulator) gene. In the context of genomics, a variant like this represents a difference in the DNA sequence compared to the most common reference sequence. This particular variant is categorized as a splice-altering mutation. Splice-altering variants are significant because they interfere with the process by which the cell reads genetic instructions to create functional proteins. When the splicing process is disrupted, the resulting messenger RNA may be incomplete or incorrectly assembled, leading to a protein that does not function as intended. Because the CFTR gene is responsible for creating a channel that transports chloride ions across cell membranes, any disruption in its production or function can have systemic effects, particularly in tissues that rely on this channel for fluid and mucus regulation.
The Role of the CFTR Gene
The CFTR gene provides instructions for making the cystic fibrosis transmembrane conductance regulator protein. This protein functions as a channel across the membranes of cells that produce mucus, sweat, saliva, tears, and digestive enzymes. By transporting negatively charged particles called chloride ions into and out of cells, the CFTR protein helps control the movement of water in tissues, which is necessary for the production of thin, freely flowing mucus. When the CFTR gene is mutated, the resulting protein may be absent, non-functional, or produced in insufficient quantities. While most people associate CFTR mutations with cystic fibrosis, the gene is also critical for the development of the male reproductive tract. Specifically, the proper function of the CFTR protein is required for the development of the vas deferens, the tubes that transport sperm from the testes. If CFTR function is impaired during development, these structures may fail to form entirely.
Research and Clinical Associations
Scientific research has established a strong link between CFTR variants and congenital bilateral absence of the vas deferens (CBAVD). CBAVD is a condition where the tubes that carry sperm are missing from birth, resulting in obstructive azoospermia, a form of male infertility where sperm cannot be ejaculated. Studies have shown that the frequency of CFTR mutations is significantly higher in men with CBAVD compared to the general population. While some variants are associated with classic cystic fibrosis, others, like those affecting splicing, may have a more localized effect on the reproductive system. The evidence for this association is considered moderate to strong in clinical genetics, as it provides a clear biological explanation for the observed infertility. However, it is important to note that not all cases of CBAVD are caused by CFTR mutations; other genes and environmental factors may also play a role in the development of the reproductive tract.
Understanding Your Genetic Information
If you have received information regarding the rs397514717 variant, it is important to understand what this means in a practical sense. This information is intended for educational purposes and should not be used to diagnose any medical condition. Genetic variants are complex, and their presence does not always guarantee a specific health outcome, as factors like gene-gene interactions and environmental influences also contribute to physical traits. If you are concerned about fertility or reproductive health, the most appropriate step is to consult with a reproductive endocrinologist, a urologist, or a certified genetic counselor. These professionals can provide context based on your personal and family medical history. They can also discuss the implications of carrier status, especially if you are planning to start a family, as they can explain the risks of passing on specific variants to future generations and discuss available reproductive options.
How common is this variant?
The rs397514717 variant is relatively rare, with a minor allele frequency (MAF) of approximately 0.001 in European populations according to gnomAD data.
Frequently asked questions
Is rs397514717 the same as having cystic fibrosis?
No, not necessarily. While rs397514717 is in the CFTR gene, it is specifically associated with CBAVD, which is a reproductive condition. Cystic fibrosis is a systemic disease that typically requires mutations in both copies of the CFTR gene that severely impact protein function.
Can I be fertile if I have this variant?
The presence of this variant is associated with CBAVD, which causes infertility due to the absence of the vas deferens. However, fertility is a complex medical issue, and you should discuss your specific results and reproductive options with a fertility specialist.
Should I get tested for other CFTR mutations?
If you have been identified as a carrier of a CFTR variant, a clinician may recommend further testing to understand your full genetic profile. This is often done to assess the risk of passing on conditions to children or to better understand your own health risks.
Where can I find more information about CBAVD?
You can find reliable information through resources like MedlinePlus Genetics or by speaking with a genetic counselor. These sources provide evidence-based summaries of genetic conditions and their underlying causes.
Sources & further reading
Educational information only, last refreshed 10/16/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Severe pathogenic mutation (p.Gly542Ter) associated with cystic fibrosis.
Classic cystic fibrosis in-frame 3-bp deletion variant (p.Phe508del / deltaF508) causing misfolding and impaired chloride channel trafficking.
Pathogenic frameshift mutation (c.3659delC) in CFTR linked to cystic fibrosis.
Pathogenic nonsense variant (p.Gly542Ter / G542X) causing autosomal recessive cystic fibrosis when inherited in trans with another CFTR pathogenic allele.
Also known as p.Arg117His (R117H), this CFTR variant is associated with mild or atypical cystic fibrosis and congenital bilateral absence of the vas deferens, with clinical severity influenced by the poly-T tract background.
A CFTR mutation associated with cystic fibrosis and CFTR-related disorders.