RET rs79661516: Understanding This Genetic Variant
The rs79661516 variant is a single nucleotide polymorphism located within the RET gene. It has been studied in the context of developmental conditions, specifically Hirschsprung disease, though its clinical significance varies.
What each genotype means
Typical RET genotype
This is the reference genotype for this position in the RET gene. Research indicates that individuals with this genotype do not carry the specific variant associated with Hirschsprung disease 1 at this location.
This is the most common genotype observed in the general population.
Heterozygous carrier status
You carry one copy of the variant allele and one copy of the reference allele. While this variant has been linked to Hirschsprung disease 1 in clinical literature, the presence of one copy does not confirm a diagnosis, and clinical significance can be complex; please consult with a genetic counselor or physician to discuss these findings.
This genotype is rare in the general population, with frequency varying significantly by ancestry.
Homozygous variant genotype
You carry two copies of the variant allele at this position. This specific genotype has been documented in clinical databases in association with Hirschsprung disease 1, a condition affecting the development of the enteric nervous system; please discuss these results with a medical professional for appropriate clinical context.
This genotype is extremely rare and is not commonly observed in large-scale population studies.
What is rs79661516?
The variant rs79661516 is a single nucleotide polymorphism (SNP) found on chromosome 10. In genetic terms, a SNP represents a change in a single building block of DNA, known as a nucleotide. For this specific variant, the DNA sequence can feature either a guanine (G) or an adenine (A) at a precise location within the RET gene. This gene is located on the long arm of chromosome 10. Because this variant is situated within a gene that plays a critical role in human development, researchers monitor it to understand how such small changes in the genetic code might influence biological processes. It is cataloged in major genomic databases, which allow scientists to track its presence across different human populations and investigate its potential links to various health outcomes.
The Role of the RET Gene
The RET gene provides the instructions for creating a protein known as a receptor tyrosine kinase. This protein acts like a communication hub on the surface of cells, receiving signals from the environment and transmitting them into the cell to trigger specific actions. The RET protein is essential for the normal development of several types of nerve cells, particularly those in the digestive tract, known as enteric neurons. It also plays a vital role in the development of the autonomic nervous system, which controls involuntary functions like heart rate, as well as in kidney development and sperm production. Because the RET protein is so fundamental to these developmental pathways, mutations or variations in the RET gene can disrupt these signals, potentially leading to developmental disorders if the protein's function is significantly altered.
Research and Associations
Scientific research has investigated the role of the RET gene in various conditions, most notably Hirschsprung disease, a condition that affects the nerve cells in the large intestine. While some variants in the RET gene are well-established as pathogenic, the evidence for rs79661516 is more nuanced. Current literature and clinical databases, such as ClinVar, have documented this variant in the context of Hirschsprung disease. However, it is important to note that the presence of a genetic variant does not automatically equate to a diagnosis. Genetic associations are often complex, and many factors, including other genes and environmental influences, contribute to the development of such conditions. The evidence strength for this specific variant is considered moderate, meaning that while it is a subject of interest in genetic research, it is not a definitive marker for disease on its own.
Population Frequency
The frequency of the rs79661516 variant varies significantly across different ancestral populations. Genomic databases like gnomAD provide data on how often the G and A alleles appear in diverse groups, showing that the distribution is not uniform globally. Because population frequency can influence how researchers interpret the impact of a variant, these data are essential for understanding the genetic architecture of human health. It is common for many genetic variants to be rare in some populations while being more prevalent in others. Researchers use this information to distinguish between common genetic diversity and rare variants that might have a more pronounced effect on biological function.
Interpreting Your Genetic Information
If you have received information about your genotype for rs79661516, it is important to view it within the context of your overall health. Genetic variants are only one piece of a much larger puzzle that includes your medical history, lifestyle, and environment. This information should never be used to self-diagnose or make medical decisions. If you are concerned about your genetic results or have a family history of conditions related to the RET gene, the most appropriate step is to consult with a qualified healthcare provider or a genetic counselor. They can help you interpret these findings accurately, explain the limitations of current research, and determine if any further clinical evaluation is necessary. Always discuss any health-related questions with a professional who understands your specific medical background.
How common is this variant?
The frequency of the rs79661516 variant varies across different global populations, and specific allele frequencies can be found in the Genome Aggregation Database (gnomAD).
Frequently asked questions
Is rs79661516 a cause of Hirschsprung disease?
The rs79661516 variant has been associated with Hirschsprung disease in some research, but it is not a simple cause-and-effect relationship. Genetic conditions are often complex, and this variant is just one of many factors that may contribute to the risk of developing the condition.
Should I be worried if I have the A/A genotype?
Having a specific genotype does not mean you will develop a disease. Genetic variants are common, and many people carry variants without ever experiencing health issues. You should consult a healthcare professional to discuss your results in the context of your personal health.
Where can I find more information about the RET gene?
You can find reliable information about the RET gene and its functions on resources like MedlinePlus Genetics or the NCBI Gene database. These sites provide comprehensive overviews of gene function and associated health conditions.
Can I use this information to change my diet or lifestyle?
There is no evidence that this specific genetic variant requires changes to your diet or lifestyle. Always consult with your doctor before making significant changes to your health routine based on genetic information.
Sources & further reading
Educational information only, last refreshed 9/19/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Pathogenic missense variant (p.Cys634Arg) predisposing carriers to multiple endocrine neoplasia type 2A (MEN2A) and familial medullary thyroid carcinoma.
Missense mutation p.Cys634Arg in the RET proto-oncogene predisposing strongly to Multiple Endocrine Neoplasia Type 2A (MEN2A) and familial medullary thyroid carcinoma.
Associated with inherited susceptibility to multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma.
Synonymous polymorphism in the RET proto-oncogene exon 11 analyzed in medullary thyroid carcinoma and Hirschsprung disease risk models.
Pathogenic missense variant (C634R) causing Multiple Endocrine Neoplasia Type 2A (MEN2A) and familial medullary thyroid carcinoma.