FLCN rs1057518043: What Your Genotype Means
The rs1057518043 variant is a specific genetic change located within the FLCN gene. This gene is primarily studied for its role in tumor suppression and its association with hereditary conditions that affect skin, lung, and kidney health.
What each genotype means
Typical genetic profile
This genotype represents the most common sequence found at this position in the FLCN gene. Current clinical databases classify this as a benign or likely benign finding, meaning it is not associated with the development of Birt-Hogg-Dubé syndrome or other known FLCN-related conditions.
This is the predominant genotype observed across global populations.
Benign variant carrier
This genotype indicates the presence of a single-nucleotide change (c.75G>A) that results in a synonymous change (p.Leu25=), meaning the protein structure is not altered. Clinical evidence classifies this as benign or likely benign, and it is not considered a cause of disease.
This genotype is found at low frequencies in the general population.
Benign variant homozygote
This genotype indicates that both copies of the FLCN gene carry the c.75G>A change. Because this change does not alter the resulting protein, it is classified as benign or likely benign and is not associated with clinical disease.
This genotype is rare in the general population.
Understanding the FLCN Gene
The FLCN gene, located on chromosome 17, provides instructions for producing a protein called folliculin. Folliculin acts as a tumor suppressor, meaning it helps regulate cell growth and division, preventing cells from growing or dividing too rapidly or in an uncontrolled way. Research indicates that this protein is involved in the mTOR signaling pathway, which is a critical regulator of cellular energy sensing and metabolism. Because of its role in maintaining cellular stability, the FLCN gene is a major focus in clinical genetics, particularly regarding conditions where this regulatory mechanism is disrupted. When the function of the folliculin protein is impaired, it can lead to the development of various growths or cysts in different parts of the body.
What is the rs1057518043 Variant?
The rs1057518043 variant is a single nucleotide polymorphism (SNP) situated within the genomic region of the FLCN gene. In genetics, a SNP represents a variation at a single position in the DNA sequence. While many variants in the human genome are benign and have no impact on health, others are studied for their potential to alter gene expression or protein function. This specific variant is cataloged in public databases as part of ongoing efforts to map the genetic landscape of the FLCN gene. It is important to note that being listed in a database does not automatically imply that a variant causes disease; rather, it marks the site as a point of interest for researchers investigating hereditary predispositions and the structural integrity of the FLCN gene.
Research and Clinical Significance
Current research into the FLCN gene is largely centered on its link to Birt-Hogg-Dubé syndrome, a rare condition characterized by skin hamartomas, pulmonary cysts, and an increased risk of certain renal tumors. While pathogenic variants in FLCN are well-documented in the context of this syndrome, the clinical significance of many individual variants, including rs1057518043, remains a subject of active study. Evidence for this specific variant is currently limited, and it is often identified during broad genomic screening. Because the evidence strength is categorized as moderate, it is not currently used as a definitive diagnostic marker. Scientists continue to analyze such variants to determine if they contribute to disease risk or if they are simply neutral variations that occur naturally within the human population.
Interpreting Your Genetic Information
If you have received information about the rs1057518043 variant, it is essential to understand that this does not constitute a medical diagnosis. Genetic variants are only one piece of a complex puzzle that includes your overall health history, lifestyle, and environmental factors. You cannot use this information to predict specific health outcomes or to make medical decisions on your own. If you are concerned about your genetic predisposition to specific conditions, the most appropriate step is to consult with a qualified healthcare provider or a genetic counselor. They can help interpret your results in the context of your personal and family medical history and guide you on whether further clinical testing or monitoring is necessary.
How common is this variant?
There is currently no specific population frequency data recorded for the rs1057518043 variant in major public genomic databases.
Frequently asked questions
What is the FLCN gene?
The FLCN gene produces a protein called folliculin, which acts as a tumor suppressor. It helps regulate cell growth and is involved in energy sensing within cells.
Is rs1057518043 a disease-causing mutation?
The clinical significance of rs1057518043 is not fully established. It is currently categorized as having moderate evidence, meaning more research is needed to determine its role in health.
Should I be worried if I have this variant?
Finding a variant does not mean you have or will develop a disease. You should discuss any genetic findings with a healthcare professional who can provide context based on your personal health history.
Where can I find more information about FLCN variants?
You can explore resources like ClinVar, MedlinePlus Genetics, and the GWAS Catalog for peer-reviewed information on specific genetic variants and their associations.
Sources & further reading
Educational information only, last refreshed 10/11/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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