BRCA1 rs767896466: Understanding This Rare Genetic Variant
The rs767896466 variant is a rare genetic change located within the BRCA1 gene. It is currently studied in the context of reproductive genetic counseling and the evaluation of hereditary cancer risk.
What each genotype means
Typical BRCA1 genetic profile
This genotype represents the most common genetic sequence found at this specific location in the BRCA1 gene. It is considered the standard or reference sequence, and there is no evidence suggesting this specific configuration contributes to hereditary cancer risk.
This is the most common genotype observed in the general population across all ancestries.
Rare variant carrier status
You carry one copy of this rare variant in the BRCA1 gene. Because this variant is classified as having limited evidence regarding its clinical impact, its role in hereditary cancer risk remains uncertain and is not currently used for definitive medical decision-making. You should discuss this finding with a genetic counselor to understand how it fits into your broader personal and family health history.
This genotype is rare, occurring at a frequency of approximately 0.0001123 in the general population.
Rare variant homozygous status
You carry two copies of this rare variant in the BRCA1 gene. Current scientific literature provides limited evidence to determine the clinical significance of this specific variant, meaning it is not currently known if this genotype affects your health or cancer risk. Please consult with a healthcare provider or genetic counselor to review this result in the context of your overall health profile.
This genotype is extremely rare and is not frequently observed in large-scale population studies.
What is the rs767896466 Variant?
The rs767896466 variant is a specific single nucleotide polymorphism (SNP) found within the BRCA1 gene. In genetics, a SNP represents a variation at a single position in the DNA sequence among individuals. This particular variant is classified as rare, meaning it is not commonly found in the general population. Because it is located within the BRCA1 gene, researchers and clinicians monitor it to determine if it has any impact on the gene's normal function. Genetic variants are identified through advanced sequencing technologies, which allow scientists to map an individual's unique genetic code. When a rare variant like rs767896466 is identified, it is often cross-referenced with large-scale databases to see if it has been previously linked to specific health conditions or if it is considered a benign change that does not affect health.
The Role of the BRCA1 Gene
The BRCA1 gene, which stands for Breast Cancer Gene 1, plays a critical role in the body as a tumor suppressor. Its primary function is to produce proteins that help repair damaged DNA, ensuring that cells grow and divide in a controlled manner. When the BRCA1 gene is functioning correctly, it helps maintain genomic stability and prevents the development of tumors. However, when significant pathogenic variants occur in this gene, the DNA repair process can be compromised, which may increase the risk of certain types of cancer, most notably breast and ovarian cancer. Because of its vital role in cellular health, any variation within the BRCA1 sequence is subject to rigorous scientific investigation to determine whether it disrupts the protein's ability to protect the body from cancer development.
Research and Evidence Strength
The current evidence regarding the clinical significance of the rs767896466 variant is limited. In the field of genomics, 'limited' evidence means that there is not yet enough peer-reviewed data or clinical consensus to definitively classify the variant as either pathogenic (disease-causing) or benign (harmless). While the BRCA1 gene is well-known for its association with hereditary breast and ovarian cancer syndrome, not every variant found within the gene carries the same risk. Researchers use various criteria, such as the location of the variant within the gene and its potential effect on protein structure, to assess its impact. For rs767896466, ongoing studies are necessary to clarify its role. It is important to remember that the presence of a rare variant does not automatically imply a medical diagnosis, and such findings are typically interpreted by genetic counselors in the context of an individual's personal and family health history.
Navigating Genetic Information
If you have received information about the rs767896466 variant, it is essential to approach it with the guidance of a qualified healthcare professional. Genetic information is complex, and a single variant rarely tells the whole story of an individual's health risk. You cannot use this information to self-diagnose or make medical decisions. Instead, discuss the findings with a genetic counselor or a physician who specializes in hereditary cancer risk. They can help you understand what the current literature says about this specific variant and how it relates to your unique situation. They may also discuss whether further testing or surveillance is appropriate based on your family history. Always rely on clinical expertise rather than independent interpretation of genetic data, as medical guidelines are constantly evolving as new research becomes available.
How common is this variant?
The rs767896466 variant is very rare, with a reported population frequency of approximately 0.0001123.
Frequently asked questions
What does it mean to have a rare BRCA1 variant?
A rare variant is a genetic change that is not commonly found in the general population. It does not necessarily mean the variant is harmful, as many rare variants have no impact on health.
Does this variant mean I will get cancer?
No. The presence of a genetic variant is only one piece of a complex puzzle. You should consult with a genetic counselor to understand your personal risk based on your family history and other factors.
How is this variant tested?
This variant is typically identified through clinical genetic testing, such as next-generation sequencing. These tests analyze specific regions of your DNA to identify variations.
Should I be worried about rs767896466?
Because the evidence for this variant is limited, it is not currently classified as a high-risk marker. It is best to discuss any concerns with a healthcare provider who can provide context based on your specific health profile.
Sources & further reading
Educational information only, last refreshed 9/15/2026. 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.
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.
A common BRCA1 variant (p.Ser1613Gly) often included in polygenic risk scores for breast cancer, but not classified as a pathogenic mutation for hereditary cancer syndromes.