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C1orf141 rs200104842: Understanding This Genetic Variant

rs200104842
Trait
Moderate evidenceGene: C1orf141

The rs200104842 variant is a genetic change located within the C1orf141 gene. It is currently classified in clinical databases as a benign or likely benign variant.

What each genotype means

A/ALower attention

Common genetic variant

This genotype represents the most common form of this variant in the C1orf141 gene. Current clinical databases classify this variant as benign or likely benign, meaning it is not expected to cause disease or significant health issues.

This is the most frequently observed genotype across global populations.

A/GLower attention

Common genetic variant

This genotype represents a heterozygous state for this variant in the C1orf141 gene. It is classified as benign or likely benign, and there is no evidence to suggest that carrying one copy of this variant impacts your health or disease risk.

This genotype is found at varying frequencies depending on ancestral background, though it remains a common variation.

G/GLower attention

Common genetic variant

This genotype represents the alternative homozygous state for this variant in the C1orf141 gene. It is classified as benign or likely benign, and current research does not associate this specific genetic change with any clinical condition or health concern.

This genotype is less common than the major allele but is still observed as a standard variation in human populations.

What is rs200104842?

The variant rs200104842 is a specific change in the human DNA sequence located on chromosome 1. In genetic databases, it is identified by its rsID (reference SNP cluster ID), which acts as a unique label for researchers to track the variant across different studies. This particular variant is situated within the C1orf141 gene, which stands for 'Chromosome 1 Open Reading Frame 141.' Because it is located in a non-coding region of the gene, specifically within the 3' untranslated region (3'UTR), it does not directly alter the sequence of amino acids that make up the protein produced by this gene. Instead, such variants are often studied for their potential roles in regulating how much protein is produced or how the gene is expressed within different tissues of the body.

Understanding the C1orf141 Gene

The C1orf141 gene provides instructions for creating a protein whose exact biological function is still being characterized by the scientific community. It is categorized as a protein-coding gene, and researchers have identified multiple transcripts, or splice variants, associated with it. While the specific role of the C1orf141 protein remains an area of active investigation, it is often studied in the context of its genomic neighborhood. The gene is located at the 1p31.3 chromosomal position. In some scientific literature, C1orf141 is discussed alongside the nearby IL23R gene, which is well-known for its involvement in immune system regulation and inflammatory processes. Understanding the function of C1orf141 is part of the broader effort to map the human genome and determine how various genes contribute to complex biological pathways.

Research and Clinical Significance

In clinical genetics, variants are evaluated based on the evidence available regarding their impact on human health. According to data from ClinVar, rs200104842 is currently annotated as 'Benign' or 'Likely benign.' This classification suggests that, based on current evidence, the variant is not expected to cause disease. It is important to note that genetic research is an evolving field; as more data is collected from diverse populations, our understanding of specific variants can be refined. While some genes in the 1p31.3 region have been associated with inflammatory conditions in large-scale genome-wide association studies (GWAS), rs200104842 itself is not widely cited as a primary driver of clinical pathology. Researchers continue to monitor such variants to ensure that as new data emerges, the clinical interpretation remains accurate and up-to-date.

What This Information Means for You

If you have encountered this variant in a personal genetic report, it is helpful to understand that it is generally considered a normal variation in the human genetic code. Because it is classified as benign or likely benign, it is not typically associated with medical conditions or health risks. Genetic information can be complex, and it is always best to view individual variants within the context of your overall health and family history. This information is for educational purposes and should not be used to make medical decisions or diagnoses. If you have specific concerns about your genetic results or how they might relate to your health, the most appropriate step is to consult with a qualified healthcare provider or a genetic counselor. They can help interpret your results in a way that is personalized to your unique medical background.

How common is this variant?

There is no specific population frequency data recorded for this variant in major public catalogs, suggesting it is a standard variation observed across various ancestral groups.

Frequently asked questions

Is rs200104842 dangerous?

No, rs200104842 is classified as benign or likely benign. This means that current scientific evidence does not suggest it causes disease or health problems.

What does 'benign' mean in genetics?

In genetics, a benign classification means that a variant is considered a normal part of human genetic diversity. It is not expected to have a negative impact on your health.

Should I be worried if I have this variant?

There is no reason to be concerned. This variant is a common, non-pathogenic change in the DNA sequence that does not require medical attention.

Where can I learn more about my genetic results?

If you have questions about your specific genetic report, you should speak with a healthcare professional or a certified genetic counselor. They can provide context based on your personal and family health history.

Sources & further reading

Educational information only, last refreshed 10/7/2026. Not medical advice — these associations describe population statistics, not individual predictions.

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