BRCA1 rs80358053: Understanding This Pathogenic Variant
The rs80358053 variant is a specific genetic change located within the BRCA1 gene. It is clinically classified as a pathogenic variant and is associated with an increased risk for developing hereditary breast and ovarian cancer.
What each genotype means
Normal risk profile
This genotype represents the common, non-pathogenic state for this specific location in the BRCA1 gene. It is not associated with the increased breast cancer risk linked to the pathogenic variants at this site.
This is the most common genotype observed in the general population.
Increased breast cancer risk
This genotype includes a variant that is clinically classified as pathogenic. Research indicates that individuals with this variant may have an increased risk for developing breast cancer.
This genotype is rare in the general population.
Increased breast cancer risk
This genotype includes a variant that is clinically classified as pathogenic. Research indicates that individuals with this variant may have an increased risk for developing breast cancer.
This genotype is rare in the general population.
Increased breast cancer risk
This genotype includes a variant that is clinically classified as pathogenic. Research indicates that individuals with this variant may have an increased risk for developing breast cancer.
This genotype is rare in the general population.
What is rs80358053 and Where is it Located?
The rs80358053 variant is a single nucleotide polymorphism (SNP) situated on chromosome 17 within the BRCA1 gene. In the context of human genetics, a SNP represents a variation at a single position in the DNA sequence. This specific variant is recognized in clinical databases for its potential to alter the function of the BRCA1 protein. Because it is located in a gene critical for DNA repair, changes at this position are scrutinized by geneticists to determine if they disrupt the normal biological processes of the cell. The variant is cataloged in major genomic databases, including dbSNP and ClinVar, which serve as essential resources for researchers and clinicians to track and interpret the clinical significance of such genetic findings.
The Role of the BRCA1 Gene
The BRCA1 gene, which stands for Breast Cancer gene 1, provides instructions for making a protein that acts as a tumor suppressor. This protein is vital for maintaining genomic stability by repairing damaged DNA, specifically through a process known as homologous recombination. When the BRCA1 protein functions correctly, it helps prevent cells from growing and dividing too rapidly or in an uncontrolled way. However, when a pathogenic variant is present, the protein may be produced in a non-functional or truncated form, or it may not be produced at all. This loss of function impairs the cell's ability to repair DNA damage effectively, which can lead to the accumulation of further genetic mutations and an increased susceptibility to certain types of cancer, particularly breast and ovarian cancers.
Research and Clinical Evidence
Scientific research has established a strong association between pathogenic variants in the BRCA1 gene and an elevated risk of hereditary breast and ovarian cancer syndrome. The rs80358053 variant is classified as pathogenic, meaning there is substantial evidence that it contributes to disease risk. Clinical databases, such as ClinVar, aggregate data from expert panels and laboratory submissions to provide these classifications. While the evidence for this specific variant is considered robust in a clinical context, it is important to note that genetic risk is complex. The presence of a pathogenic variant does not guarantee that an individual will develop cancer, but it does indicate a significantly higher statistical probability compared to the general population. Ongoing research continues to refine our understanding of how these variants interact with other genetic and environmental factors.
Population Frequency
The rs80358053 variant is considered rare in the general population. Because it is a rare variant, it is not typically found in the vast majority of individuals. Its frequency can vary significantly depending on the specific ancestral background of a population, with some rare variants appearing more frequently in certain groups due to founder effects, where a variant is passed down from a common ancestor within a specific community. Genetic testing services and large-scale genomic studies, such as gnomAD, provide data on how often these variants appear across diverse global populations. For rare variants like this one, the absence of the variant in a population database is the expected norm, and its presence is usually identified through targeted clinical testing for individuals with a personal or family history of cancer.
Interpreting Genetic Information
Understanding your genetic information requires careful consideration and professional guidance. If you have received information about a variant like rs80358053, it is essential to understand that this is not a medical diagnosis. Genetic test results should always be discussed with a qualified healthcare provider, such as a genetic counselor or a physician specializing in oncology. They can help place the result in the context of your personal and family medical history. You cannot change your genetic sequence, but knowing about a pathogenic variant can empower you and your healthcare team to make informed decisions regarding personalized screening schedules or risk-management strategies. Always rely on clinical professionals to interpret these findings rather than attempting to draw medical conclusions independently.
How common is this variant?
The rs80358053 variant is rare across global populations, appearing at very low frequencies in standard genomic databases.
Frequently asked questions
What does it mean if a variant is classified as pathogenic?
A pathogenic classification means that there is strong scientific and clinical evidence that the variant disrupts the normal function of the gene. In the case of tumor suppressor genes like BRCA1, this disruption is linked to an increased risk of developing specific diseases.
Does having this variant mean I will definitely get cancer?
No, having a pathogenic variant does not mean you will definitely develop cancer. It indicates an increased statistical risk, but many other factors, including lifestyle, environment, and other genetic modifiers, influence the actual development of disease.
Should I get tested for this specific BRCA1 variant?
Genetic testing is typically recommended for individuals with a significant personal or family history of breast or ovarian cancer. You should discuss the appropriateness of testing with a genetic counselor or your doctor to determine if it is relevant to your health profile.
How can I find a genetic counselor to discuss my results?
You can find a qualified genetic counselor through professional organizations like the National Society of Genetic Counselors (NSGC). Your primary care physician or oncologist can also provide a referral to a local genetics clinic.
Sources & further reading
Educational information only, last refreshed 9/17/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This rare variant has been recently annotated in clinical databases as a potential contributor to hereditary breast and ovarian cancer risk.
Variant identified in polygenic risk scores for breast cancer susceptibility.
A rare variant located in the BRCA1 gene, relevant to reproductive genetic counseling and the assessment of hereditary cancer risk.
This variant is a rare genetic alteration in the BRCA1 gene, which is critical for DNA repair and associated with hereditary breast and ovarian cancer syndromes impacting reproductive health.
A very rare variant identified in recent genomic studies, currently being investigated for potential associations with reproductive phenotypes.
This BRCA1 variant (p.Pro871Leu) is a common polymorphism often evaluated in breast cancer risk studies, though it is generally considered to have no clinical significance for hereditary breast and ovarian cancer syndrome.