BRCA1 rs80357463: What Your Genotype Means
The rs80357463 variant is a specific genetic change located within the BRCA1 gene. It is classified as a pathogenic variant associated with an increased risk for hereditary breast and ovarian cancer syndrome.
What each genotype means
Typical BRCA1 profile
This genotype represents the common, non-variant sequence at this position in the BRCA1 gene. It is not associated with the pathogenic effects linked to the variant form of this gene. Individuals with this genotype do not carry the specific hereditary breast and ovarian cancer risk factor described for this variant.
This is the most common genotype found in the general population.
Pathogenic BRCA1 variant carrier
This genotype indicates the presence of a pathogenic BRCA1 variant, often referred to in literature as c.5266dupC or p.Gln1756Profs. This variant is associated with hereditary breast and ovarian cancer syndrome and is expected to result in a loss of BRCA1 protein function. Individuals with this genotype should consult with a genetic counselor or healthcare provider to discuss appropriate clinical management and screening options.
This genotype is rare in the general population.
Pathogenic BRCA1 variant homozygous
This genotype indicates that both copies of the BRCA1 gene carry the pathogenic variant. This variant is linked to hereditary breast and ovarian cancer syndrome and is expected to cause a loss of BRCA1 protein function. Individuals with this genotype should consult with a medical professional to discuss the clinical implications and appropriate health monitoring.
This genotype is extremely rare in the general population.
Understanding the Variant and Its Location
The variant rs80357463 is a single nucleotide polymorphism (SNP) situated on chromosome 17 within the BRCA1 gene. In the human genome, BRCA1 is located at the cytogenetic position 17q21.31. This specific variant represents a change in the DNA sequence that has been identified by clinical researchers as having a significant impact on the function of the BRCA1 protein. Because it is located within a critical gene involved in DNA repair, changes at this site are monitored closely in clinical genetics. The variant is cataloged in major databases like dbSNP and ClinVar, which serve as central repositories for information regarding human genetic variation and its potential clinical significance.
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 essential for maintaining genomic stability by repairing damaged DNA, specifically through the process of homologous recombination. When the BRCA1 protein functions correctly, it helps prevent cells from growing and dividing too rapidly or in an uncontrolled way. If a pathogenic variant is present, the production or function of this protein may be impaired, reducing the cell's ability to repair DNA damage effectively. This accumulation of genetic errors can increase the likelihood of developing certain types of cancer, particularly breast and ovarian cancers, as the body's natural defense mechanisms against tumor formation are compromised.
Research and Clinical Evidence
Research into rs80357463 has led to its classification as a pathogenic variant. Clinical evidence indicates that individuals who carry this variant have a higher susceptibility to hereditary breast and ovarian cancer syndrome. This syndrome is characterized by an autosomal dominant inheritance pattern, meaning that an individual only needs to inherit the variant from one parent to be at an increased risk. It is important to note that the penetrance—the likelihood that a person with the variant will actually develop cancer—is not 100%. Many factors, including other genetic modifiers and environmental influences, play a role in cancer development. Because the evidence for its pathogenicity is well-documented in clinical databases, it is often included in genetic screening panels for hereditary cancer risk.
Population Frequency
The rs80357463 variant is considered rare in the general population. Because it is a rare pathogenic variant, it is not typically found at high frequencies in large-scale genomic databases like gnomAD. Its presence is often identified through targeted clinical testing in families with a history of breast or ovarian cancer rather than through population-wide screening. The rarity of this variant underscores the importance of clinical genetic counseling, as its presence is highly specific to individuals or families who have inherited the variant through their lineage. Because it is not a common polymorphism, its distribution is often linked to specific founder effects or family clusters rather than being evenly spread across diverse global populations.
What This Information Means for You
If you have received information about this variant, it is essential to understand that this is not a medical diagnosis. Genetic testing results should always be interpreted by a qualified healthcare professional, such as a genetic counselor or an oncologist. They can help you understand what this result means in the context of your personal and family medical history. You cannot use this information to self-diagnose or make independent medical decisions. If you are concerned about your risk for hereditary cancer, discuss your results with your clinician. They can provide guidance on appropriate surveillance, such as increased screening frequency, or discuss potential risk-reduction strategies tailored to your specific health profile and genetic status.
How common is this variant?
The rs80357463 variant is rare in the general population, with its occurrence typically limited to specific families or populations with a known history of hereditary cancer.
Frequently asked questions
What does it mean if a variant is classified as pathogenic?
A pathogenic classification means that scientific evidence strongly suggests the variant increases the risk of developing a specific disease or condition. In the case of BRCA1, it indicates an increased risk for hereditary breast and ovarian cancer.
Does having a BRCA1 variant mean I will definitely get cancer?
No, having a pathogenic BRCA1 variant does not mean you will definitely develop cancer. It means your risk is higher than that of the general population, but many factors influence whether cancer actually develops.
Should I get tested for rs80357463?
Genetic testing is typically recommended for individuals with a strong family history of breast or ovarian cancer. You should discuss the necessity and implications of testing with a genetic counselor or your doctor.
Can I change my risk if I have this variant?
While you cannot change your genetics, you can work with healthcare providers to manage your risk. This may include more frequent cancer screenings or other medical management strategies recommended by your clinical team.
Sources & further reading
Educational information only, last refreshed 9/17/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs80357463?
Upload a raw DNA file from 23andMe, AncestryDNA, MyHeritage, or FamilyTreeDNA and see this variant — plus thousands more — interpreted in your full report.
Get my report — $29Related variants in BRCA1
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.