BRCA2 rs11571815: Understanding the p.Lys3326Ter Variant
The rs11571815 variant in the BRCA2 gene, also known as p.Lys3326Ter, is a genetic change that results in a truncated protein. Research has investigated its potential association with a modest increase in the risk of certain cancers, though it is distinct from high-risk pathogenic BRCA2 mutations.
What each genotype means
Typical BRCA2 genetic profile
This genotype represents the most common sequence at this position in the BRCA2 gene. It is considered the reference sequence and is not associated with the increased cancer risks linked to the T allele.
This is the most common genotype found in the vast majority of the global population.
Increased cancer risk predisposition
You carry one copy of the p.Lys3326Ter variant, which results in a truncated BRCA2 protein. Research indicates this variant is associated with a modest but statistically significant increase in the risk of developing certain cancers, including breast, lung, and upper aerodigestive tract cancers. Because the clinical significance of this variant is sometimes debated and classified as benign in some hereditary cancer contexts, you should discuss these findings with a genetic counselor or healthcare provider to understand your personal risk profile.
This genotype is carried by approximately 1 in 50 to 1 in 100 individuals of non-Finnish European ancestry and is less common in other global populations.
Increased cancer risk predisposition
You carry two copies of the p.Lys3326Ter variant, which leads to the production of a truncated BRCA2 protein. While this variant is linked to a modest increase in the risk of breast, lung, and upper aerodigestive cancers, the overall clinical impact of this specific genotype is still being studied. Please consult with a medical professional or genetic counselor to discuss how this information fits into your broader health history and cancer screening needs.
This genotype is very rare, occurring in a small fraction of the population even in groups where the T allele is more common.
What is rs11571815?
The variant rs11571815, commonly referred to as p.Lys3326Ter or K3326X, is a single nucleotide polymorphism located in the BRCA2 gene. Specifically, this variant involves a change in the DNA sequence that introduces a premature stop codon near the end of the gene, specifically in the penultimate exon. This alteration is predicted to result in the truncation of the final 93 amino acids of the BRCA2 protein. Because this change occurs at the very end of the protein, the resulting molecule may retain some of its functional capacity, which distinguishes it from the more severe, loss-of-function mutations typically associated with hereditary breast and ovarian cancer syndrome. Geneticists and researchers monitor such variants to determine how they influence protein stability and cellular function over time.
The Role of the BRCA2 Gene
The BRCA2 gene provides instructions for making a protein that plays a critical role in DNA repair. This protein is essential for maintaining genomic stability by helping to fix damaged DNA through a process known as homologous recombination. When DNA damage occurs, the BRCA2 protein helps coordinate the repair machinery to ensure that genetic information is copied accurately during cell division. Inherited pathogenic mutations in BRCA2 are well-known for significantly increasing the risk of several cancers, including breast, ovarian, prostate, and pancreatic cancer. Because the protein is so vital for cellular health, researchers study variants like rs11571815 to understand if they disrupt these repair processes. While some variants completely disable the protein, others, like p.Lys3326Ter, may have a more nuanced or limited impact on the protein's overall ability to protect the genome.
Research and Clinical Significance
The clinical significance of rs11571815 has been a subject of extensive study. While some early reports suggested a link to an increased predisposition for breast, lung, and upper aerodigestive cancers, the evidence is considered limited compared to classic pathogenic BRCA2 mutations. In fact, recent expert panel classifications, such as those from ClinGen, have categorized this specific variant as benign regarding its role in traditional BRCA2-related cancer predisposition. This means that while the variant is present in the population, it does not carry the same high-risk implications as other known BRCA2 mutations. It is important to distinguish between variants that cause high-penetrance disease and those that may have a very small or negligible effect on cancer risk. Patients who receive results regarding this variant should consult with a genetic counselor or oncologist to interpret the findings within the context of their personal and family medical history.
Population Frequency
The rs11571815 variant is found at varying frequencies across different global populations. It is most commonly observed in individuals of non-Finnish European descent, where the minor allele frequency is approximately 0.01, or 1%. In other global cohorts, the frequency of this variant is generally lower. Because it is relatively common in certain populations, it is frequently identified during large-scale genetic screening and exome sequencing projects. Understanding these population-level frequencies is essential for researchers to determine whether a variant is rare enough to be considered a potential driver of disease or common enough to be considered a benign polymorphism. As with many genetic variants, the frequency data is continuously updated as more diverse populations are included in genomic databases like gnomAD, providing a clearer picture of how common this specific change is worldwide.
Managing Genetic Information
If you have been informed that you carry the rs11571815 variant, it is important to understand that this information does not constitute a medical diagnosis. Genetic testing results can be complex, and the interpretation of variants can change as scientific knowledge evolves. You should not make any changes to your health management or screening schedule based solely on this information without speaking to a healthcare professional. A genetic counselor can help you place this result in the context of your family history and current clinical guidelines. They can explain the difference between a variant of uncertain significance, a benign variant, and a pathogenic mutation. Always discuss your genetic reports with a qualified clinician who can provide personalized guidance based on your specific health needs and the most current, peer-reviewed medical evidence.
How common is this variant?
The minor allele frequency is approximately 0.01 in non-Finnish Europeans and is lower in other global cohorts.
Frequently asked questions
Is rs11571815 the same as a BRCA2 mutation?
While rs11571815 is a variant located within the BRCA2 gene, it is classified differently than the high-risk pathogenic mutations typically associated with hereditary cancer syndromes. Expert panels have often classified it as benign regarding traditional BRCA2-related cancer risk.
Does having this variant mean I will get cancer?
No, having this variant does not mean you will develop cancer. It is a common genetic variation, and current evidence suggests it does not carry the same high-risk implications as pathogenic BRCA2 mutations.
Should I change my cancer screening if I have this variant?
You should not change your medical management or screening schedule based on this variant alone. Always discuss your genetic test results with a doctor or genetic counselor to determine if your personal or family history warrants specific screening.
Where can I find more information about my specific genetic report?
You should contact the laboratory that performed your test or consult with a healthcare provider. They can provide the most accurate interpretation of your results based on your specific clinical context.
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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Get my report — $29Related variants in BRCA2
This variant is a clinically significant allele in the BRCA2 gene associated with hereditary breast and ovarian cancer syndrome.
This variant (p.Lys3326Ter) is classified as a benign polymorphism and is not considered a primary driver of hereditary breast and ovarian cancer susceptibility.
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.