CFTR rs72552761: Reproductive Health and Carrier Status
The rs72552761 variant is a sequence alteration within the human CFTR gene cataloged in medical genetics databases. Variants in this gene are routinely assessed in reproductive screening due to their established roles in autosomal recessive traits, such as congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis. Understanding your genotype at this locus provides important context regarding carrier status and reproductive biology.
What each genotype means
| Genotype | What the research suggests | Reading |
|---|---|---|
| Homozygous Reference | You carry two standard reference copies of the CFTR locus at this position. This is the typical sequence found in the overwhelming majority of the general population. It is not associated with an increased risk of CFTR-related reproductive traits. | Informational |
| Heterozygous | You carry one standard copy and one copy of the rs72552761 variant sequence. While typically causing no symptoms on its own, this identifies you as a carrier. Carrier status is clinically meaningful during reproductive planning to evaluate joint odds with a partner. | Higher attention |
| Homozygous Alternate | You carry two copies of the variant sequence at this position. Because this is an exceptionally rare genotype, individuals with this profile should seek clinical confirmation. Consultation with a genetic counselor can help evaluate potential impacts on reproductive anatomy or epithelial function. | Higher attention |
What Is rs72552761 and Where Is It Located?
The reference SNP identifier rs72552761 designates a specific genomic variation record tracked across public sequencing repositories such as dbSNP, Ensembl, and ClinVar. In clinical genetics and commercial carrier testing panels, variants in this category are mapped to chromosomal regions governing epithelial ion exchange. Genomic coordinates place this variant within human chromosome 7 at band 7q31.2, spanning the critical functional domain of the CFTR gene. Single-nucleotide polymorphisms and small indels at this position involve an alteration of the standard reference sequence, typically presenting as a transition or transversion between nucleotide bases. Genomic catalogs utilize standardized Human Genome Variation Society (HGVS) nomenclature to track whether an alteration occurs within non-coding intronic regulatory regions or within protein-coding exons. Because small genomic alterations can alter transcriptional splicing or structural protein stability, each specific rsID record is indexed by international consortia to establish baseline reference sequences and quantify deviations from the human reference assembly.
The Biological Role of the CFTR Gene
The CFTR gene provides instructions for producing the cystic fibrosis transmembrane conductance regulator protein, a specialized anion channel located in the plasma membrane of epithelial cells. This channel functions as a gatekeeper for the bidirectional transport of negatively charged ions, most notably chloride and bicarbonate, across the cell surface. The passive flow of chloride ions out of epithelial cells draws water molecules along with them via osmosis, which serves an essential physiological role: maintaining thin, slippery, and freely flowing mucus and mucosal secretions across organ systems. CFTR channels are expressed throughout multiple body systems, including the pulmonary airways, the pancreas, gastrointestinal linings, sweat glands, and the reproductive tract. In the male reproductive tract, the proper regulation of lumen fluid viscosity is vital during embryonic development. When CFTR ion transport is impaired, luminal fluids become dehydrated and excessively viscous. In developing Wolffian duct-derived structures, this thickened fluid can lead to mechanical obstruction, ductal degradation, or incomplete tissue differentiation before birth, ultimately resulting in anatomical variations such as an absent vas deferens.
Evidence Strength: CBAVD and Male Reproductive Biology
Congenital bilateral absence of the vas deferens (CBAVD) is an anatomical condition characterized by the failure of the tubes that transport sperm from the testicles (the vasa deferentia) to develop properly. Men with CBAVD produce healthy sperm within the testicular parenchyma, but the physical absence of conduits results in obstructive azoospermia, meaning sperm cannot enter the ejaculate. The association between CFTR mutations and CBAVD is well recognized in clinical literature, accounting for the vast majority of non-systemic reproductive CFTR-related disorders. However, the specific strength of evidence linking rs72552761 to severe pathology is formally categorized as limited in molecular diagnostic frameworks. While classic full-penetrance mutations cause severe multisystemic cystic fibrosis when inherited in a homozygous state, non-classic or hypomorphic variants are often associated with milder, monosymptomatic phenotypes. In published reproductive genetics studies, heterozygous carriage of mild CFTR variants often produces no symptoms whatsoever, while complex compound heterozygous pairings are typically required to precipitate CBAVD. Because published penetrance data for rs72552761 remain modest, medical genetic databases note that isolated findings must be interpreted with caution.
Population Frequency and Ancestral Patterns
Variant frequencies across global populations provide essential context for interpreting personal genetic testing. Data from the Genome Aggregation Database (gnomAD) indicate that rs72552761 is a relatively uncommon allele globally, with an estimated global minor allele frequency of approximately 0.0001 (0.01%). Like many documented CFTR variations, this variant exhibits ancestral enrichment, occurring at measurable frequencies primarily in populations of European ancestry while being substantially rarer or undetected in individuals of East Asian, African, and Native American descent. Because rare alleles are subject to genetic drift and founder effects, demographic history plays a substantial role in population screening efficiency. In broader epidemiological analyses of male infertility cohorts, common alleles such as the intron 9 poly-thymidine tract and the R117H missense change dominate the clinical landscape of CFTR-related CBAVD. Rare variants like rs72552761 appear intermittently in clinical sequencing series, emphasizing the necessity of evaluating individual ancestry and family history during population-level risk assessments.
Actionable Context: What You Can and Cannot Do With This Information
Receiving personal genetic data identifying an rs72552761 variant does not represent a standalone medical diagnosis. An individual who carries one copy of a CFTR variant is generally considered an asymptomatic carrier. Possession of a single variant copy does not mean a person will experience cystic fibrosis or male infertility. Autosomal recessive traits require the presence of two causative mutations (one inherited from each biological parent) to manifest clinically. For individuals planning a pregnancy, carrier status at CFTR loci is routinely integrated into comprehensive family planning. If one partner carries a variant, reproductive screening often involves evaluating the reproductive partner to assess the statistical probability of transmitting pathogenic alleles. Men experiencing unexplained fertility challenges or obstructive azoospermia who discover an altered genotype should consult a reproductive urologist or certified genetic counselor. Clinical confirmation requires diagnostic-grade Sanger sequencing or next-generation sequencing assays rather than relying solely on raw unverified consumer data files.
How common is this variant?
According to gnomAD data, rs72552761 has an estimated global allele frequency of approximately 0.0001 (0.01%) and is enriched primarily in populations of European ancestry.
Frequently asked questions
Does carrying rs72552761 mean I have cystic fibrosis?
No. Carrying a single copy of a CFTR variant typically makes an individual an asymptomatic carrier. Classic cystic fibrosis is an autosomal recessive disorder that requires inheriting two disease-causing mutations—one from each biological parent.
Can women be affected by rs72552761-associated conditions?
CBAVD specifically affects male reproductive anatomy because it involves the developmental failure of the vas deferens, a structure absent in biological females. However, females can be asymptomatic carriers of CFTR variants and can pass the variant to biological children.
How does CFTR cause congenital bilateral absence of the vas deferens (CBAVD)?
During male fetal development, epithelial cells lining the reproductive tract rely on CFTR channels to regulate salt and water balance. Insufficient CFTR channel activity causes secretions within the developing Wolffian ducts to become thick and dry, causing the tubes to obstruct, atrophy, or fail to fully form before birth.
If a man has CBAVD, can he still have biological children?
Yes. Most men with CBAVD have normally functioning testes that produce viable sperm. Fertility specialists can often retrieve sperm directly from testicular or epididymal tissue using procedures like testicular sperm extraction (TESE), paired with in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI).
What steps should I take if this variant was found on a direct-to-consumer DNA test?
Direct-to-consumer genetic screening files can contain assay artifacts or unphased data. If you have questions about family planning or reproductive health, request clinical-grade diagnostic sequencing and discuss your results with a medical geneticist or certified genetic counselor.
Sources & further reading
Educational information only, last refreshed 9/7/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Get my report — $29Related variants in CFTR
Classic cystic fibrosis in-frame 3-bp deletion variant (p.Phe508del / deltaF508) causing misfolding and impaired chloride channel trafficking.
Class III CFTR gating missense variant (p.Gly551Asp, G551D) responsive to the CFTR potentiator ivacaftor (Kalydeco).
Indicates carrier status for cystic fibrosis caused by the severe p.Gly542Ter (G542X) nonsense mutation.
Identifies heterozygous carriers of the frameshift mutation c.3659delC (p.Thr1220Lysfs) linked to autosomal recessive cystic fibrosis.
Pathogenic nonsense variant (p.Gly542Ter / G542X) causing autosomal recessive cystic fibrosis when inherited in trans with another CFTR pathogenic allele.
Pathogenic missense variant (p.Arg117His / R117H) associated with CFTR-related disorders, variable-expressivity cystic fibrosis, and congenital bilateral absence of the vas deferens.