ATM rs1801673: Understanding This Genetic Variant
The rs1801673 variant is a single nucleotide polymorphism located within the ATM gene. It has been studied for its potential role in contributing to minor, independent risks for certain health conditions, including breast cancer susceptibility.
What each genotype means
Typical risk profile
This genotype represents the most common version of this variant found in the general population. Research suggests this specific genetic configuration does not contribute to the minor, cumulative risk associations observed with the alternative allele. No specific medical action is indicated based on this result alone.
This is the most common genotype, carried by the vast majority of individuals across all global populations.
Minor risk association
You carry one copy of the variant allele, which has been identified in some studies as one of many genetic factors that may contribute to a minor, cumulative increase in breast cancer risk. Because this effect is small and independent, it is not considered a diagnostic indicator of disease. You should continue to follow standard health screening guidelines recommended by your healthcare provider.
This genotype is relatively uncommon, consistent with a minor allele frequency of approximately 0.28%.
Minor risk association
You carry two copies of the variant allele, which is associated with a minor, cumulative contribution to breast cancer risk in some research studies. This variant is not a primary driver of disease, and the overall impact on your personal health remains statistically small. Please discuss your family history and any concerns regarding cancer screening with your clinician.
This genotype is rare in the general population, occurring at a frequency significantly lower than the heterozygous state.
What is rs1801673?
The rs1801673 variant is a specific change in the DNA sequence located on chromosome 11. In the context of human genetics, a single nucleotide polymorphism (SNP) like rs1801673 represents a variation at a single position in the genome where one nucleotide—the building block of DNA—is replaced by another. For this specific variant, the change involves an adenine (A) to thymine (T) substitution. This SNP is situated within the ATM gene, which provides instructions for making a protein that is essential for the body's response to DNA damage. Because this variant is located in a gene involved in critical cellular repair processes, researchers have investigated whether it influences how cells maintain genomic stability. It is cataloged in major genomic databases, allowing scientists to track its presence across different populations and study its potential impact on human health.
The Role of the ATM Gene
The ATM gene, which stands for Ataxia-Telangiectasia Mutated, plays a vital role in the human body. It encodes a protein kinase that acts as a master regulator of the cellular response to DNA double-strand breaks. When DNA is damaged, the ATM protein is activated and triggers a cascade of signals that either repair the damage or, if the damage is too severe, signal the cell to undergo programmed cell death (apoptosis). This process is crucial for preventing the accumulation of mutations that could lead to cancer. Mutations in the ATM gene that cause a loss of function are well-known to cause ataxia-telangiectasia, a rare, inherited disorder. However, common variants like rs1801673 are different; they are not typically associated with such severe conditions but are instead studied for their subtle effects on disease risk or biological function in the general population.
Research and Associations
Scientific research has explored the association between rs1801673 and various health outcomes, most notably breast cancer. Some studies have identified this SNP as one of many variants that may contribute to a minor, cumulative increase in breast cancer risk. Other research has looked at whether variants in the ATM gene might influence the risk of contralateral breast cancer, which is the development of a second, independent tumor in the opposite breast. It is important to note that the evidence for these associations is considered moderate. Many of these findings come from genome-wide association studies (GWAS), which look for statistical correlations between genetic markers and traits. Because these associations are often small and influenced by many other genetic and environmental factors, the presence of this variant does not serve as a diagnostic tool. The scientific community continues to refine these findings as more data becomes available.
Interpreting Your Genetic Information
When you encounter information about variants like rs1801673, it is essential to understand that genetic associations are statistical, not deterministic. Having a specific genotype does not mean you will develop a particular condition. Many factors, including lifestyle, environment, and the rest of your genetic makeup, play a much larger role in your overall health. You cannot use this information to diagnose yourself or predict future health outcomes with certainty. If you are concerned about your risk for specific conditions, such as hereditary cancer syndromes, the most appropriate step is to consult with a healthcare professional or a certified genetic counselor. They can provide context based on your personal and family medical history. Never make changes to your health management or medical care based on genetic data without first discussing it with a qualified clinician or pharmacist.
How common is this variant?
The rs1801673 variant is relatively rare, with a Global Minor Allele Frequency (GMAF) of approximately 0.002755. This indicates that the T allele is found in a small percentage of the global population.
Frequently asked questions
Is rs1801673 a cause of cancer?
No, rs1801673 is not a direct cause of cancer. It is a genetic variant that has been statistically associated with minor, cumulative risks in some research studies, but it does not determine whether an individual will develop the disease.
Should I get tested for the ATM gene?
Genetic testing for ATM variants is typically reserved for individuals with a strong family history of specific cancers or those suspected of having ataxia-telangiectasia. You should discuss the necessity of such testing with a doctor or genetic counselor.
What does 'minor allele' mean?
In genetics, the minor allele is the version of a DNA sequence that is less common in a given population. It does not necessarily mean the variant is harmful or 'minor' in terms of its biological importance.
Can I change my risk if I have this variant?
Genetic variants are fixed at birth. However, you can manage your overall health risk through lifestyle choices, regular screenings, and medical check-ups as recommended by your healthcare provider.
Sources & further reading
Educational information only, last refreshed 9/20/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Intronic variant in the ATM gene associated with glycemic response to metformin in patients with type 2 diabetes.
Missense variant (p.Asp1853Asn) in ATM associated with altered DNA damage response, radiation-induced toxicity, and chemotherapeutic sensitivity.
This variant in the ATM gene is a clinically significant marker often studied in the context of DNA repair and cancer susceptibility.
This variant in the ATM gene is one of several SNPs identified as contributing to a cumulative increased risk for breast cancer.