BRCA2 rs11571834: Understanding the p.Lys3326Ter Variant
The rs11571834 variant, also known as p.Lys3326Ter, is a specific change in the BRCA2 gene. Current scientific consensus classifies this variant as a benign polymorphism that is not considered a primary driver of hereditary breast and ovarian cancer susceptibility.
What each genotype means
Typical risk profile
You carry two copies of the standard allele and do not have the BRCA2 p.Lys3326Ter premature stop variant. Research indicates this genotype is not associated with the modestly elevated risks of breast, ovarian, or lung cancers observed in variant carriers. Your baseline risks for these conditions remain aligned with general population averages and individual family background.
Found in approximately 98% to 99% of individuals of European ancestry and exceeds 99% in East Asian, African, and other non-European populations.
Modestly elevated cancer susceptibility
You carry one copy of the BRCA2 p.Lys3326Ter (also referred to as K3326X) nonsense variant. While standard clinical curation guidelines frequently classify this variant as benign or low penetrance for classic hereditary breast and ovarian cancer syndrome, large epidemiologic studies observe a modest increase in susceptibility to breast, ovarian, and lung (particularly squamous cell) cancers. This is a mild risk modifier rather than a high-risk pathogenic mutation, and individual disease outcomes depend heavily on personal lifestyle and broader genomic factors.
Carried in a heterozygous state by roughly 1% to 2% of people of European descent; it is substantially rarer in East Asian and African ancestries.
Increased cancer susceptibility
You carry two copies of the BRCA2 p.Lys3326Ter nonsense variant. Homozygous individuals have been reported in large genome-wide association cohorts with higher relative cancer susceptibility compared to non-carriers, although the variant retains substantial DNA repair capacity compared to classical severe BRCA2 mutations. Because this genotype is very rare and evidence on long-term clinical penetrance remains limited, findings should be interpreted with clinical genetics counseling rather than assumed to indicate definitive disease.
Extremely rare across all global ancestries, occurring in fewer than 1 in 10,000 individuals worldwide.
What is rs11571834?
The variant rs11571834 is a single nucleotide variant located within the BRCA2 gene on chromosome 13. In scientific literature, it is frequently referred to by its protein-level change, p.Lys3326Ter, which indicates a substitution that results in a premature stop codon. While the term 'stop' might sound concerning in a genetic context, not all such variants disrupt protein function in a way that causes disease. This specific variant is widely documented in clinical databases as a benign polymorphism. It sits in a region of the gene that does not appear to interfere with the essential functions of the BRCA2 protein, distinguishing it from the rare, highly penetrant pathogenic mutations that are known to significantly increase the risk of hereditary cancer syndromes.
The Role of the BRCA2 Gene
The BRCA2 gene provides instructions for making a protein that plays a critical role in maintaining genomic stability. This protein is essential for the repair of damaged DNA, specifically through a process known as homologous recombination. By helping to fix double-stranded breaks in DNA, BRCA2 acts as a tumor suppressor, preventing cells from accumulating the types of mutations that can lead to uncontrolled growth and cancer. When an individual carries a truly pathogenic mutation in BRCA2, the protein's ability to repair DNA is compromised, which significantly elevates the lifetime risk of developing breast, ovarian, and other cancers. However, because rs11571834 is classified as benign, it does not impair the DNA repair function of the BRCA2 protein in the way that pathogenic mutations do.
Research and Clinical Evidence
The clinical significance of rs11571834 has been extensively studied to ensure it is not misidentified as a high-risk mutation. Large-scale genetic studies and expert panels, such as those associated with the ENIGMA consortium, have evaluated this variant and concluded that it does not meet the criteria for pathogenicity. While some early research explored whether it might have a minor effect on cancer risk, the current consensus is that it is not a primary driver of hereditary breast and ovarian cancer. It is important to distinguish this variant from the thousands of other BRCA2 variants that are classified as pathogenic or as variants of uncertain significance (VUS). Because the evidence consistently points toward a benign classification, it is generally not used in clinical settings to assess an individual's hereditary cancer risk.
Population Frequency
The rs11571834 variant is relatively common in the general population, which is a strong indicator that it is not a rare, high-risk mutation. It is present at a frequency of approximately 0.6% to 0.8% in many control populations. Because it is found at this frequency in healthy individuals who do not have a history of hereditary cancer, it is considered a common polymorphism rather than a rare disease-causing mutation. Population databases like gnomAD provide data on how often this variant appears across different ancestral groups, confirming its status as a standard variation in the human genome. Its presence in the general population at these levels is consistent with its classification as a benign genetic change.
What This Information Means for You
If you have received a report indicating you carry the rs11571834 variant, it is helpful to understand that this is generally considered a normal variation. It is not a diagnosis of cancer, nor is it a marker for a significantly increased risk of hereditary cancer. Genetic information can be complex, and it is always best to discuss any findings from genetic testing with a qualified healthcare provider or a genetic counselor. They can help you interpret your results in the context of your personal and family medical history. You should never make changes to your medical care or screening schedule based on this variant alone. Always consult with your clinician before making any decisions regarding your health or medical management.
How common is this variant?
The rs11571834 variant is present at a frequency of approximately 0.6–0.8% in general control populations.
Frequently asked questions
Is rs11571834 a BRCA2 mutation that causes cancer?
No, rs11571834 is classified as a benign polymorphism. It is not considered a primary driver of hereditary breast or ovarian cancer.
Should I be worried if I have the rs11571834 variant?
Because this variant is considered benign, it is not typically associated with an increased risk of cancer. You should discuss your specific genetic report with a healthcare provider to understand your results in the context of your overall health.
Does this variant affect how BRCA2 works?
Current research indicates that this variant does not impair the function of the BRCA2 protein. It is considered a normal variation in the human genome.
Where can I find more information about my BRCA2 results?
You can consult resources like ClinVar or MedlinePlus Genetics for general information about genetic variants. For personal health concerns, always speak with a doctor or a certified genetic counselor.
Sources & further reading
Educational information only, last refreshed 10/28/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This variant is a clinically significant allele in the BRCA2 gene associated with hereditary breast and ovarian cancer syndrome.
A pathogenic variant in BRCA2 associated with hereditary breast and ovarian cancer syndrome.
A pathogenic variant in the BRCA2 gene associated with hereditary breast and ovarian cancer.
A rare pathogenic variant in the BRCA2 gene associated with hereditary breast and ovarian cancer syndrome.
Also known as Lys3326Ter (K3326X), this truncating variant in the C-terminus of BRCA2 confers moderate increased susceptibility to breast, ovarian, and lung cancers.
Protein-truncating variant (K3326X) in BRCA2 associated with a modest increase in risk for breast and other cancers.