BRCA2 rs80338734: Understanding This Genetic Variant
The rs80338734 variant is a specific change located within the BRCA2 gene, which is essential for maintaining genomic stability. It is currently categorized as a pathogenic variant associated with hereditary breast and ovarian cancer syndrome.
What each genotype means
Typical BRCA2 genetic profile
This genotype represents the common, non-variant sequence at this specific location in the BRCA2 gene. It is considered the reference sequence and is not associated with the pathogenic risks described for the variant allele. You should follow standard population-based cancer screening guidelines as recommended by your healthcare provider.
This is the most common genotype found in the general population across all ancestries.
Carrier of BRCA2 variant
This genotype indicates you carry one copy of the rs80338734 variant. Research suggests this variant is associated with an increased risk for certain hereditary cancers, though the clinical evidence remains limited. Please consult with a genetic counselor or your physician to discuss how this result fits into your personal and family health history.
This genotype is rare and is identified primarily in specific clinical screenings rather than the general population.
Homozygous for BRCA2 variant
This genotype indicates you carry two copies of the rs80338734 variant. While this variant is recognized as pathogenic in clinical genomics, the specific health implications of being homozygous are not fully characterized in current literature. It is essential to discuss this finding with a medical geneticist to understand the potential impact on your cancer risk profile.
This genotype is extremely rare and is not typically observed in large-scale general population cohorts.
What is rs80338734?
The rs80338734 variant is a single nucleotide polymorphism (SNP) located within the BRCA2 gene on chromosome 13. In genomics, a SNP represents a variation at a single position in the DNA sequence. This specific variant is identified by its reference SNP ID (rsID) in public databases like dbSNP. Because it occurs within the BRCA2 gene, researchers monitor it closely to determine how it might alter the structure or function of the resulting protein. When a variant is classified as pathogenic, it means that scientific evidence suggests the change may disrupt the normal biological processes the gene is responsible for, potentially increasing the risk for certain health conditions. Understanding the location and nature of this variant is a foundational step in clinical genomics, as it helps researchers and clinicians evaluate its potential impact on human health.
The Role of the BRCA2 Gene
The BRCA2 gene provides instructions for making a protein that acts as a tumor suppressor. This protein plays a critical role in the repair of damaged DNA, specifically through a process known as homology-directed repair. By fixing double-strand breaks in DNA, the BRCA2 protein ensures that genetic information is accurately copied and maintained during cell division. When the BRCA2 gene functions correctly, it helps prevent the accumulation of mutations that could lead to uncontrolled cell growth and cancer. However, if a variant like rs80338734 disrupts the production or function of this protein, the cell's ability to repair its DNA is compromised. This loss of function is a well-documented mechanism in the development of hereditary breast and ovarian cancer syndrome, as the body becomes less efficient at correcting errors that arise naturally or through environmental exposure.
Research and Clinical Evidence
Current research classifies rs80338734 as a pathogenic variant, meaning it is linked to an increased susceptibility to hereditary cancers. Evidence for such variants is typically gathered through clinical studies, family history assessments, and functional laboratory assays that test how the variant affects DNA repair capacity. While the association with cancer risk is established, the strength of evidence for specific variants can vary based on the amount of data available in clinical archives like ClinVar. It is important to note that having a pathogenic variant does not guarantee that an individual will develop cancer; rather, it indicates a higher statistical risk compared to the general population. Because clinical genomics is an evolving field, the interpretation of variants can be updated as more data is collected. Researchers continue to study these variants to better understand their penetrance and how they interact with other genetic and environmental factors.
Population Frequency and Prevalence
The rs80338734 variant is considered rare in the general population. In clinical genomics, rare variants are often identified through targeted screenings of individuals with a strong family history of cancer or those who meet specific clinical criteria. Because the variant is rare, it is not typically found in large-scale, unselected population studies at high frequencies. The rarity of such pathogenic variants is a key factor in why they are often studied in the context of specific families or cohorts. As more individuals undergo genomic sequencing, our understanding of the distribution of this variant across different ancestral backgrounds continues to improve. Current data suggests that while the variant is rare, its identification in a clinical setting is significant for familial risk assessment and genetic counseling.
What This Information Means for You
If you have encountered information about rs80338734, it is essential to understand that this is a complex area of medicine. Genetic information should always be interpreted in the context of your personal and family health history by a qualified healthcare professional, such as a genetic counselor or a medical geneticist. You cannot use this information to diagnose yourself or predict your future health outcomes with certainty. If you are concerned about your genetic risk, discuss your findings with a clinician who can provide appropriate context, recommend screening protocols, or suggest further testing if necessary. Genetic testing results are tools for informed decision-making, not definitive medical instructions. Always rely on personalized medical advice from your healthcare team rather than general information found online, as they can account for your unique health profile and clinical needs.
How common is this variant?
The rs80338734 variant is a rare pathogenic variant identified in recent clinical screenings and is not common in the general population.
Frequently asked questions
Is rs80338734 a cause of cancer?
The variant is associated with an increased risk of developing certain hereditary cancers, such as breast and ovarian cancer. It is considered a pathogenic variant, meaning it may impair the body's ability to repair DNA, but it is not a direct cause of cancer on its own.
Should I get tested for this variant?
Genetic testing is typically recommended for individuals with a significant personal or family history of cancer. You should discuss the necessity and implications of genetic testing with a doctor or a certified genetic counselor.
What does it mean if I am a carrier?
Being a carrier means you have one copy of the variant. This may increase your risk for certain conditions, and it is important to discuss what this means for your health and your family members with a medical professional.
Can I change my risk if I have this variant?
While you cannot change your genetics, knowing your risk allows you and your healthcare provider to create a personalized management plan. This may include increased surveillance, earlier screenings, or other preventative measures.
Sources & further reading
Educational information only, last refreshed 10/6/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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An established pathogenic variant causing increased susceptibility to breast, ovarian, and prostate cancers.
A pathogenic variant in the BRCA2 gene that has been newly classified as significantly impacting predisposition to hereditary breast and ovarian cancer.
This variant is a known pathogenic mutation contributing to 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 linked to increased risk for breast and lung cancers.
Nonsense variant p.Lys3326Ter near the C-terminus of BRCA2 associated with a modest but significantly increased predisposition to breast, lung, and upper aerodigestive cancers.