BRCA1 rs1457542706: What Your Genotype Means
The rs1457542706 variant is a rare genetic change located within the BRCA1 gene. It has been identified in clinical databases as a potential contributor to hereditary breast and ovarian cancer risk, though current evidence regarding its clinical impact is limited.
What each genotype means
Typical BRCA1 genotype
This genotype represents the most common sequence found at this location in the BRCA1 gene. It is considered the baseline or reference state for this specific genetic position.
This is the most common genotype observed across all global populations.
Rare variant carrier
This genotype indicates the presence of a rare variant in one copy of the BRCA1 gene. Current evidence for this specific variant is limited, and its clinical significance regarding hereditary cancer risk remains uncertain; it should not be used for predictive testing in family members.
This genotype is extremely rare, appearing in approximately 1 in 50,000 individuals based on gnomAD data.
Rare variant homozygous
This genotype indicates the presence of the rare variant in both copies of the BRCA1 gene. Because this variant is very rare and evidence is limited, the functional impact of having two copies is not well-characterized in scientific literature.
This genotype is exceptionally rare and has not been significantly documented in general population databases.
Understanding the Variant and Its Location
The variant rs1457542706 is a single nucleotide polymorphism (SNP) situated within the BRCA1 gene. The BRCA1 gene is located on the long arm of chromosome 17 at position 17q21.31. This gene is large, spanning approximately 110 kilobases of DNA and containing 22 coding exons. Because rs1457542706 is a rare variant, it is not typically found in the general population. Geneticists track such variants to determine if they alter the function of the protein produced by the gene or if they are benign changes that do not affect health. Its specific location within the gene is critical, as mutations in different regions of BRCA1 can have varying effects on the stability and function of the resulting protein.
The Role of the BRCA1 Gene
The BRCA1 gene provides instructions for making a protein that acts as a tumor suppressor. This protein is essential for maintaining genomic stability by repairing damaged DNA, particularly double-strand breaks. It functions as part of a large multi-subunit complex known as the BRCA1-associated genome surveillance complex (BASC), which acts as a sensor for DNA damage and a signal transducer for cell cycle checkpoints. When the BRCA1 protein is functioning correctly, it helps prevent cells from growing and dividing too rapidly or in an uncontrolled way. Inherited mutations in BRCA1 can impair these repair mechanisms, which is why certain variants are strongly associated with an increased lifetime risk of developing breast and ovarian cancers.
Research and Evidence Strength
The evidence supporting an association between rs1457542706 and cancer risk is currently classified as limited. In clinical genetics, variants are often categorized based on the strength of evidence linking them to disease, ranging from benign to pathogenic. Because this variant is extremely rare, there is not yet enough data from large-scale clinical studies or functional assays to definitively classify its impact. Clinical databases may flag such variants as potential contributors to hereditary breast and ovarian cancer syndrome, but this is often based on predictive modeling or preliminary observations rather than established clinical consensus. As more individuals are sequenced and data is aggregated, the classification of this variant may change, as has been observed with many other variants of uncertain significance in the BRCA1 gene.
Population Frequency
According to data from the Genome Aggregation Database (gnomAD), the population frequency of rs1457542706 is approximately 0.00001. This extremely low frequency indicates that the variant is very rare across global populations. Because it is so uncommon, it is difficult for researchers to conduct large-scale association studies to determine its exact effect on health. Most individuals will not carry this variant, and its presence is typically identified only through specialized genetic testing or research-grade sequencing projects.
What This Information Means for You
If you have received a report indicating you carry the rs1457542706 variant, it is important to understand that this does not constitute a medical diagnosis. Because the evidence for this variant is limited, it is often categorized as a variant of uncertain significance (VUS). You cannot use this information to predict your personal health outcomes or to make medical decisions on your own. Genetic information is complex and should always be interpreted in the context of your personal and family medical history. If you are concerned about your cancer risk, you should consult with a certified genetic counselor or a healthcare provider who specializes in oncology. They can help you understand the current state of research, discuss the limitations of the data, and determine if further clinical evaluation or screening is appropriate for your specific situation.
How common is this variant?
The rs1457542706 variant is extremely rare, with a population frequency of approximately 0.00001 according to gnomAD.
Frequently asked questions
What is a variant of uncertain significance (VUS)?
A VUS is a genetic change where there is not enough scientific evidence to determine if it is harmful or benign. As more research is conducted, these variants are often reclassified as more data becomes available.
Does having a BRCA1 variant mean I will get cancer?
No, having a BRCA1 variant does not mean you will definitely develop cancer. It may indicate an increased risk, but many other factors, including lifestyle and other genetic influences, contribute to overall cancer risk.
Should I be worried if I have this variant?
Finding a rare variant can be concerning, but it is important to discuss the results with a genetic counselor. They can provide context based on your family history and the current, limited evidence regarding this specific SNP.
How can I find out if this variant is dangerous?
Clinical databases like ClinVar are updated as new research is published. You should rely on your healthcare provider to interpret the latest clinical guidelines regarding any genetic findings.
Sources & further reading
Educational information only, last refreshed 9/18/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This pathogenic variant in the BRCA1 tumor suppressor gene is associated with a significantly increased lifetime risk of hereditary breast and ovarian cancer syndrome.
This variant is classified as likely pathogenic for BRCA1-related cancer predisposition based on multifactorial likelihood analysis and functional assay data.
This variant is a pathogenic mutation associated with hereditary breast and ovarian cancer syndrome, with clinical significance supported by multiple submitters and expert curation.
This variant is a pathogenic splice-donor mutation in the BRCA1 gene associated with hereditary breast and ovarian cancer syndrome.
This variant (p.Arg1699Trp) is a well-documented pathogenic variant in the BRCA1 gene associated with increased risk of hereditary breast and ovarian cancer.
Variant identified in polygenic risk scores for breast cancer susceptibility.