WFDC11 rs748992628: Understanding This Rare Variant
The genetic variant rs748992628 is a rare missense single-nucleotide alteration located within the coding sequence of the WFDC11 gene on chromosome 20. Current scientific evidence regarding its clinical impact is very limited, and it is categorized in clinical databases such as ClinVar as likely benign. Because the variant causes a minor protein sequence change in a gene with modest functional characterization, it is primarily viewed as a benign or neutral human genetic difference.
What each genotype means
Typical WFDC11 sequence
You carry two copies of the common reference allele for the WFDC11 gene. This genotype is the standard sequence observed across global populations and is not associated with altered protein structure or health concerns. There are no clinical findings or functional differences linked to this common profile.
Carried by more than 99.9% of individuals across all major continental populations.
Rare missense carrier
You carry one copy of the rare alternate allele, which causes a missense amino acid change in the WFDC11 protein. Clinical evaluation records in ClinVar classify this variant as likely benign or of uncertain impact, and current research does not connect it to any established disease or adverse health trait. Because evidence on this variant remains very limited, its presence is regarded as a benign background finding rather than a medical concern.
Carried by fewer than 1 in 1,000 individuals globally, remaining exceptionally rare across all ancestries in gnomAD.
Extremely rare alternate homozygote
You carry two copies of the rare alternate missense allele in the WFDC11 gene. Homozygous occurrences are extraordinarily rare in population reference cohorts, and clinical genetics resources evaluate this variation as likely benign without recognized disease associations. Because research into WFDC11 function is limited, this profile represents an unusual genetic variation rather than a known clinical risk.
Extremely rare to virtually absent, occurring in far fewer than 1 in 1,000,000 individuals globally.
Genomic Location and Variant Characteristics
The single-nucleotide polymorphism rs748992628 is situated on human chromosome 20 at position 45,649,304 (GRCh38 assembly), within the protein-coding gene WFDC11. At this specific genomic coordinate, the standard reference nucleotide is replaced by an alternative nucleotide, creating an amino acid substitution in the resulting WFDC11 protein sequence. As a missense variant, it directly alters one codon during translation. In genomic repositories such as dbSNP, rs748992628 is tracked alongside other rare coding variations to monitor potential impacts on protein stability and biochemical function. Despite altering the protein code, many missense variations across human exomes do not inherently compromise cellular processes or cause physiological disruption, functioning instead as benign examples of normal human genetic variation.
The Biological Role of WFDC11
WFDC11 encodes WAP four-disulfide core domain protein 11, which belongs to the larger family of whey acidic protein (WAP) four-disulfide core domain-containing proteins. Most human genes in this family are clustered together on chromosome 20q12–q13 and are characterized by a conserved structural motif typically functioning as serine protease inhibitors. Proteins in this family, such as elafin and SLPI, participate in extracellular matrix modeling, tissue remodeling, and innate mucosal immunity. Although WFDC11 shares sequence homology with these protease regulators and is predicted to be an extracellular secreted factor, its exact physiological roles remain less thoroughly characterized than those of its close family members. Current experimental research suggests potential expression in reproductive and mucosal tissues, but WFDC11 is not recognized as an essential driver of classical Mendelian disorders.
Current Research and Clinical Evidence
Scientific evidence connecting rs748992628 to human disease or measurable physiological traits is extremely limited. The variant has been submitted to the National Center for Biotechnology Information's ClinVar archive, where standard clinical interpretation criteria have classified it as likely benign without specific disease associations. Broad-scale genome-wide association studies (GWAS) cataloging thousands of common phenotypes have not uncovered any significant metabolic, immunological, or clinical associations tied directly to rs748992628. Because missense variants can vary widely in their functional consequences, researchers use in silico computational tools and population prevalence data to predict impact. In the case of rs748992628, lack of evolutionary conservation pressure and the absence of disease segregation strongly support its neutral designation.
Navigating Personal Genetic Results
Discovering an unfamiliar variant like rs748992628 in personal sequencing or direct-to-consumer data can sometimes cause undue concern, especially when labeled as a coding missense change. It is important to recognize that having an alternative allele at this site is not a medical diagnosis and does not indicate an inherited health condition. Pharmacogenomic consortia like CPIC and PharmGKB do not list rs748992628 as having any influence on drug metabolism, safety, or dosage. Readers should avoid altering their health routines or pursuing clinical interventions based solely on this genotype. If genetic findings cause concern or if there is a personal family history of hereditary illness, speaking with a licensed genetic counselor or physician is the most appropriate course of action.
How common is this variant?
The rs748992628 variant is exceptionally rare across worldwide populations, with an allele frequency consistently documented under 0.001 (0.1%) in the Genome Aggregation Database (gnomAD). The vast majority of people across all major ancestries carry the homozygous reference genotype.
Frequently asked questions
What is rs748992628?
The rs748992628 marker is an uncommon single-nucleotide variant situated within an exon of the WFDC11 gene on chromosome 20. It causes an amino acid substitution in the WFDC11 protein, but current clinical consensus evaluates it as likely benign.
Does rs748992628 cause any inherited diseases?
No, there are no documented hereditary disorders or health syndromes linked to rs748992628. Expert evaluations cataloged in ClinVar consider the variant to have no significant pathogenic impact on human health.
How common is rs748992628 in the general population?
This variant is very rare, appearing with an allele frequency well below 0.1% across major population datasets like gnomAD. Most individuals globally possess two copies of the reference allele.
Does this genetic variant affect medication response?
No, rs748992628 has no known relevance to drug metabolism, medication efficacy, or adverse drug reactions. It is not referenced by pharmacogenomic guidelines such as CPIC or PharmGKB.
Sources & further reading
Educational information only, last refreshed 9/13/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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