CFTR rs397514718: Understanding Reproductive Health Associations
The rs397514718 variant is a specific genetic alteration located within the CFTR gene. It is primarily recognized for its association with congenital bilateral absence of the vas deferens (CBAVD), a condition that can lead to male infertility without the pulmonary symptoms typically seen in cystic fibrosis.
What each genotype means
Typical CFTR function
This genotype represents the most common genetic sequence at this location in the CFTR gene. It is not associated with the reproductive or respiratory conditions linked to pathogenic variants in this gene.
This is the most common genotype found in the general population across all ancestries.
Potential reproductive risk carrier
This genotype indicates you carry one copy of this variant. Research suggests that when this variant is present alongside another pathogenic CFTR mutation on the opposite chromosome, it may be linked to congenital bilateral absence of the vas deferens (CBAVD) and male infertility. It is not considered a primary cause of cystic fibrosis on its own, and you should consult a genetic counselor or fertility specialist to discuss your specific reproductive health context.
This genotype is rare, with the variant allele found at a frequency of approximately 0.00023 in global populations.
Increased reproductive health risk
This genotype means you carry two copies of this variant. While the clinical significance of this specific homozygous state is still being studied, variants in this gene are known to be associated with male infertility due to the absence of the vas deferens. You should discuss these findings with a healthcare provider or genetic specialist to understand how this may relate to your personal health history.
This genotype is extremely rare, having been observed only once in large-scale population databases like gnomAD.
What is the rs397514718 Variant?
The rs397514718 variant is a specific change in the DNA sequence of the CFTR gene. In genomics, a single nucleotide polymorphism (SNP) or small variant like this represents a variation at a single position in the genome. This particular variant is categorized within the reproductive health domain of genetic research. It sits within the CFTR gene, which provides instructions for making a protein that functions as a channel across the membranes of cells that produce mucus, sweat, saliva, tears, and digestive enzymes. When a variant occurs in this gene, it can alter the function of this channel, potentially leading to various clinical manifestations depending on the specific nature of the change and how it affects protein production or activity.
The Role of the CFTR Gene
The CFTR gene encodes the Cystic Fibrosis Transmembrane Conductance Regulator protein. This protein is essential for maintaining the balance of salt and water on many cell surfaces. When the CFTR protein is dysfunctional, it can lead to the production of thick, sticky mucus that clogs airways and ducts in various organs. While most people associate CFTR mutations with cystic fibrosis, which affects the lungs and digestive system, certain variants are linked to a more localized condition known as congenital bilateral absence of the vas deferens (CBAVD). In these cases, the vas deferens—the tubes that transport sperm from the testes—fail to develop properly during fetal growth. This can occur even in the absence of the severe respiratory or digestive symptoms that characterize classic cystic fibrosis.
Research and Clinical Evidence
Scientific literature identifies CFTR variants as a primary genetic cause of CBAVD. Research indicates that approximately 95% of men with cystic fibrosis have CBAVD, but it also appears as a monosymptomatic condition in men without other CF symptoms. The evidence linking specific variants like rs397514718 to this condition is considered moderate, as clinical significance often depends on the presence of other variants on the same or opposite chromosome. It is important to distinguish between statistical association and clinical impact; while a variant may be statistically linked to a condition, the actual health outcome for an individual can vary based on their complete genetic profile and environmental factors. Clinicians often evaluate these findings in the context of a patient's full clinical history and reproductive goals.
Interpreting Your Genetic Information
If you have received information regarding the rs397514718 variant, it is essential to understand that this is not a medical diagnosis. Genetic variants are pieces of information that contribute to a broader biological picture. Because this variant is associated with reproductive health, individuals may choose to discuss these findings with a genetic counselor or a reproductive specialist. These professionals can help interpret the results in the context of your personal and family health history. You cannot use this information to self-diagnose or predict specific fertility outcomes with certainty. Always consult with a qualified healthcare provider to discuss what these findings mean for your health and to explore appropriate clinical testing or reproductive options if you are concerned about fertility.
How common is this variant?
The rs397514718 variant is rare, with a reported gnomAD frequency of less than 0.0005 across major population groups.
Frequently asked questions
Is rs397514718 the same as having cystic fibrosis?
No, having this variant does not mean you have cystic fibrosis. While it is in the same gene, it is specifically associated with congenital absence of the vas deferens, which can occur without the respiratory or digestive symptoms of cystic fibrosis.
Can I use this information to diagnose infertility?
No. Genetic variants are only one factor in reproductive health. A diagnosis of infertility requires a comprehensive clinical evaluation by a medical professional, including physical exams and semen analysis.
What should I do if I have this variant?
If you are concerned about your reproductive health, you should schedule an appointment with a urologist or a reproductive endocrinologist. They can provide context based on your specific health history and discuss any necessary clinical testing.
Is this variant common?
No, this variant is considered rare. According to population databases like gnomAD, its frequency is very low, typically less than 0.0005.
Sources & further reading
Educational information only, last refreshed 9/22/2026. 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.