BRCA2 rs575825368: Understanding This Rare Genetic Variant
The rs575825368 variant is a rare genetic alteration located within the BRCA2 gene. It is currently classified as a pathogenic variant associated with an increased predisposition to hereditary breast and ovarian cancer syndromes.
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 typical genetic state for this position and is not associated with the pathogenic risks described for the variant form.
This is the most common genotype observed across all global populations.
Carrier of rare variant
This genotype indicates you carry one copy of the rare variant rs575825368. Current evidence for this specific variant is limited, and while some rare BRCA2 variants are linked to hereditary cancer predisposition, the clinical significance of this specific change remains under investigation.
This genotype is very rare and is not commonly found in large-scale population databases.
Rare variant homozygous
This genotype indicates you carry two copies of the rare variant rs575825368. Because this variant is classified as having limited evidence regarding its impact on hereditary cancer predisposition, it is important to discuss these results with a genetic counselor or healthcare provider to understand what this means for your personal health context.
This genotype is extremely rare and is not typically observed in general population studies.
What is rs575825368 and Where is it Located?
The identifier rs575825368 refers to a specific single nucleotide variant (SNV) found within the BRCA2 gene. In genomics, an rsID (reference SNP cluster ID) acts as a unique label for a specific location in the human genome where a variation has been observed. The BRCA2 gene itself is situated on chromosome 13, specifically at the 13q13.1 locus. This region is highly significant in clinical genetics because it houses the instructions for producing the BRCA2 protein, which plays a critical role in maintaining genomic stability. When a variant like rs575825368 occurs, it represents a change in the DNA sequence at this precise coordinate. Because this variant is categorized as pathogenic, it implies that the change may disrupt the normal function of the gene, potentially impacting how the body repairs damaged DNA or regulates cell growth.
The Role of the BRCA2 Gene
The BRCA2 gene provides instructions for making a protein that acts as a tumor suppressor. This protein is essential for the repair of damaged DNA, particularly through a process known as homologous recombination, which fixes double-strand breaks in the genetic code. By ensuring that DNA is repaired accurately, the BRCA2 protein helps maintain the stability of a cell's genetic information and prevents the accumulation of mutations that could lead to uncontrolled cell division. When the BRCA2 gene is functioning correctly, it serves as a safeguard against cancer development. However, if a pathogenic variant is present, the resulting protein may be non-functional or absent, significantly impairing the cell's ability to repair its DNA. This loss of function is a well-documented mechanism that increases the risk of developing certain types of cancer, most notably breast and ovarian cancers, as well as other malignancies.
Research Associations and Evidence Strength
Current research classifies rs575825368 as a pathogenic variant, meaning there is evidence suggesting it contributes to hereditary cancer predisposition. In clinical genetics, the strength of evidence for such variants is often determined by observing the variant in individuals with a history of cancer and assessing its impact on protein function. While the evidence for this specific variant is considered limited in some contexts, it is recognized in clinical databases as having a significant impact on cancer risk. It is important to note that the presence of a pathogenic variant does not guarantee that an individual will develop cancer; rather, it indicates a higher statistical probability compared to the general population. Clinical management for individuals carrying such variants often involves increased surveillance or specialized screening protocols, which should always be discussed with a qualified genetic counselor or medical oncologist.
What You Can and Cannot Do With This Information
Understanding your genetic status regarding rs575825368 is a powerful tool, but it must be used within a clinical framework. If you have received results indicating the presence of this variant, the most important step is to consult with a healthcare professional, such as a genetic counselor or a physician specializing in hereditary cancer. They can help interpret what this means for your personal health and your family members. You cannot use this information to self-diagnose or predict a definitive health outcome. Genetic testing results are complex and should never be interpreted in isolation. Furthermore, avoid making medical decisions, such as pursuing prophylactic surgeries or changing medications, without direct guidance from your clinical team. Genetic information is meant to inform personalized care plans, ensuring that you receive the appropriate level of screening and support tailored to your specific genetic profile.
How common is this variant?
The rs575825368 variant is documented as being very rare in the general population, with limited representation in large-scale genomic databases.
Frequently asked questions
What does it mean if a variant is classified as pathogenic?
A pathogenic classification means that scientific evidence indicates the variant is associated with an increased risk of a specific disease or condition. In the case of BRCA2, it suggests the variant may impair the gene's ability to suppress tumor growth.
Does having a BRCA2 variant mean I will definitely get cancer?
No, having a pathogenic BRCA2 variant does not mean you will definitely develop cancer. It indicates a higher statistical risk, but many other factors, including lifestyle, environment, and other genetic modifiers, influence actual health outcomes.
Should I share my genetic results with my family?
Genetic variants can be inherited, so sharing results with family members is often recommended. A genetic counselor can provide guidance on how to discuss these findings with relatives and explain the implications for their own health.
How can I find a genetic counselor?
You can find a qualified genetic counselor through professional organizations like the National Society of Genetic Counselors (NSGC). Your primary care physician can also provide a referral to a genetics clinic.
Sources & further reading
Educational information only, last refreshed 10/4/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Get my report — $29Related variants in BRCA2
An established pathogenic variant causing increased susceptibility to breast, ovarian, and prostate cancers.
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.
Pathogenic stop-gain variant associated with markedly increased risk of breast, ovarian, and prostate cancers.