RET rs6267: Understanding This Synonymous Genetic Variant
The rs6267 variant is a synonymous polymorphism located within the RET proto-oncogene. It has been analyzed in scientific literature regarding its potential role in risk models for medullary thyroid carcinoma and Hirschsprung disease.
What each genotype means
Common reference genotype
This is the most common genotype observed in the general population for this specific location in the RET gene. Research into this variant often uses this genotype as the baseline for comparison in studies regarding Hirschsprung disease and medullary thyroid carcinoma risk models. It is considered the standard sequence at this position.
This is the most frequent genotype observed across major global populations.
Heterozygous variant carrier
You carry one copy of the common reference allele and one copy of the variant allele. This synonymous polymorphism in the RET gene has been studied for its potential role in disease risk models, though its individual clinical significance remains limited and is not considered diagnostic. You should discuss any specific health concerns with a medical professional.
Carried by a significant portion of individuals in European and Asian populations, consistent with a minor allele frequency of approximately 20-30%.
Homozygous variant carrier
You carry two copies of the variant allele at this position in the RET gene. While this variant is included in research models for Hirschsprung disease and thyroid carcinoma, it is a synonymous change, meaning it does not alter the protein sequence. Current evidence regarding its clinical impact is limited, and it should not be used to predict individual disease risk.
This genotype is less common than the heterozygous state but is present in a notable percentage of individuals within European and Asian populations.
What is rs6267?
The variant rs6267 is a single nucleotide polymorphism (SNP) situated within the RET gene. In genetics, a synonymous polymorphism refers to a change in the DNA sequence that does not alter the amino acid sequence of the resulting protein. Because the genetic code is redundant, multiple codons can specify the same amino acid. Consequently, while the DNA letter at this specific position may differ between individuals, the functional protein produced by the RET gene remains unchanged in its primary structure. This variant is located in exon 11 of the RET gene, a region that has been the subject of extensive investigation due to the gene's critical role in human development and disease susceptibility.
The Role of the RET Gene
The RET proto-oncogene encodes a receptor tyrosine kinase, a type of protein that acts as a molecular switch to regulate essential cellular processes. These include cell survival, differentiation, and proliferation. The RET protein is particularly vital for the development of the enteric nervous system, which controls the movement of the intestines. Mutations that disrupt the function of the RET protein are well-documented as the primary genetic cause of Hirschsprung disease, a condition characterized by the absence of nerve cells in parts of the bowel. Conversely, overactive or gain-of-function mutations in RET are associated with multiple endocrine neoplasia syndromes and medullary thyroid carcinoma, a rare neuroendocrine tumor arising from the thyroid's parafollicular C-cells.
Research and Evidence Strength
Scientific interest in rs6267 stems from its location within the RET gene, which is a major focus in clinical genetics. Researchers have analyzed this variant in various risk models to determine if it contributes to the susceptibility of conditions like medullary thyroid carcinoma or Hirschsprung disease. However, the evidence strength for rs6267 as a standalone driver of these conditions is currently considered limited. While the RET gene itself is undeniably central to these pathologies, synonymous variants like rs6267 often serve as markers in broader genetic studies rather than direct causative agents. It is important to distinguish between the high-impact, rare coding mutations that cause disease and common, synonymous variants that may have subtle or negligible effects on overall health.
Population Frequency
The frequency of the rs6267 variant varies across different ancestral groups. Current data indicates that the minor allele frequency (MAF) for this variant typically ranges between 0.20 and 0.30 in both European and Asian populations. This makes it a relatively common variant in these groups. Because it is found at such frequencies, it is considered a common polymorphism rather than a rare mutation. Understanding these population-level frequencies is essential for researchers when they design studies to compare the genetic profiles of individuals with specific health conditions against those of the general population, ensuring that findings are not simply due to ancestral background.
Interpreting Your Genetic Information
If you encounter rs6267 in a personal genetic report, it is important to view this information in the correct context. As a synonymous variant, rs6267 does not change the protein structure of the RET receptor. It is not a diagnostic marker for disease, and its presence does not imply that you have or will develop a medical condition. Genetic associations are often complex, involving many genes and environmental factors. You should never use information about a single SNP to make health decisions or draw conclusions about your medical future. If you have concerns about your family history, particularly regarding thyroid health or intestinal issues, the most appropriate step is to consult with a qualified healthcare provider or a genetic counselor who can interpret your full clinical picture.
How common is this variant?
The rs6267 variant is common, with a minor allele frequency (MAF) typically observed between 0.20 and 0.30 in European and Asian populations.
Frequently asked questions
Is rs6267 a cause of thyroid cancer?
No, rs6267 is a synonymous variant and is not considered a causative mutation for thyroid cancer. While the RET gene is involved in medullary thyroid carcinoma, this specific SNP does not change the protein's function.
Does my genotype for rs6267 mean I have Hirschsprung disease?
No, having a specific genotype for rs6267 does not mean you have or will develop Hirschsprung disease. Hirschsprung disease is a complex condition often linked to rare, high-impact mutations in the RET gene, not common synonymous variants.
What does 'synonymous' mean in genetics?
A synonymous variant is a change in the DNA sequence that does not change the amino acid produced by the gene. Because the protein remains the same, these variants are often considered to have no functional impact.
Should I be worried about my RET gene results?
Genetic results should always be discussed with a healthcare professional. A single SNP result like rs6267 is rarely informative on its own and should not be a source of concern without clinical context.
Sources & further reading
Educational information only, last refreshed 9/27/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Associated with inherited susceptibility to multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma.
Pathogenic missense variant (p.Cys634Arg) causing Multiple Endocrine Neoplasia Type 2A (MEN2A) and familial medullary thyroid carcinoma.
Missense mutation p.Cys634Arg in RET associated with Multiple Endocrine Neoplasia Type 2A (MEN2A).
A pathogenic missense variant (p.Cys634Arg) in the RET proto-oncogene associated with Multiple Endocrine Neoplasia type 2A (MEN2A).
A variant located in the RET gene, which is involved in various developmental processes including those relevant to ocular health.