SMARCB1 rs1060503016: What Your Genotype Means
The rs1060503016 variant is a rare genetic change located within the SMARCB1 gene. It is associated with an increased risk for Rhabdoid Tumor Predisposition Syndrome 1, a condition that affects how the body regulates cell growth.
What each genotype means
Typical SMARCB1 gene profile
This genotype represents the common, non-variant form of the SMARCB1 gene. Individuals with this profile do not carry the specific genetic alteration associated with Rhabdoid Tumor Predisposition Syndrome 1.
This is the most common genotype found in the general population.
Increased rhabdoid tumor risk
This genotype indicates the presence of a heterozygous germline variant in the SMARCB1 gene, which is linked to Rhabdoid Tumor Predisposition Syndrome 1. Carriers of this variant have an increased susceptibility to developing rare, aggressive rhabdoid tumors, and clinical surveillance or genetic counseling is often recommended for affected families.
This specific variant is very rare in the general population.
Understanding the Variant and Its Location
The variant rs1060503016 is a specific change in the DNA sequence of the SMARCB1 gene. This gene is located on chromosome 22 at position 22q11.23. In genetics, a variant like this represents a single point of difference in the genetic code compared to the most common sequence found in the human population. Because this variant is located within a gene that acts as a critical tumor suppressor, researchers monitor it closely to understand how it might alter the production or function of the SMARCB1 protein. While many variants in the human genome are neutral, those occurring in genes responsible for regulating cell division are of particular interest to scientists studying hereditary cancer syndromes.
The Role of the SMARCB1 Gene
The SMARCB1 gene provides instructions for creating a protein that serves as a core subunit of the SWI/SNF chromatin remodeling complex. This complex is essential for regulating gene expression by modifying how DNA is packaged within the cell nucleus. By controlling the structure of chromatin, the SMARCB1 protein helps determine which genes are turned on or off during critical processes like cell growth, division, and maturation. Because it ensures that cells do not divide uncontrollably, SMARCB1 is classified as a tumor suppressor gene. When the function of this protein is impaired, the regulatory "brakes" on cell growth may be compromised, which can contribute to the development of various tumors.
Research and Clinical Associations
Current research associates variants in the SMARCB1 gene with Rhabdoid Tumor Predisposition Syndrome 1 (RTPS1). This syndrome is characterized by an increased risk of developing aggressive, malignant tumors, such as atypical teratoid rhabdoid tumors (ATRT), particularly in early childhood. The evidence linking specific germline variants in SMARCB1 to this syndrome is well-documented in clinical literature, though the functional impact of every individual variant can vary. In many cases, the development of tumors requires a 'two-hit' mechanism: an individual inherits one altered copy of the gene (germline variant), and a second, somatic mutation occurs later in specific cells, leading to a complete loss of SMARCB1 function. The strength of evidence for specific rare variants like rs1060503016 remains limited, and clinical interpretation often requires expert genetic counseling.
Population Frequency and Interpretation
The rs1060503016 variant is classified as very rare across global populations. Because it is not a common polymorphism, it is not typically found in the general population at high frequencies. When a variant is this rare, it is often identified in the context of clinical diagnostic testing for individuals or families with a history of specific tumor types. Because the frequency is so low, there is limited data regarding its distribution across different ancestral groups. If you have received information about this variant from a clinical report, it is important to discuss the findings with a medical geneticist or a genetic counselor who can provide context based on your personal and family health history.
What You Can Do With This Information
Genetic information regarding rare variants should always be handled in consultation with healthcare professionals. If you or a family member have been identified as a carrier of a SMARCB1 variant, you should consult with a clinical geneticist or an oncologist who specializes in hereditary cancer syndromes. They can help interpret what this means for your health and whether specific screening or surveillance protocols are appropriate. It is important to remember that having a genetic variant does not guarantee the development of a health condition; rather, it indicates a potential predisposition. Avoid making medical decisions based solely on raw genetic data. Always rely on professional clinical guidance to understand the implications of your genetic results and to determine the best path forward for your health.
How common is this variant?
This variant is documented as very rare in human populations, with no significant frequency data available across major ancestral groups.
Frequently asked questions
What is Rhabdoid Tumor Predisposition Syndrome 1?
RTPS1 is a rare hereditary condition caused by pathogenic variants in the SMARCB1 gene. It increases the risk of developing certain aggressive tumors, such as atypical teratoid rhabdoid tumors.
Does having this variant mean I will get cancer?
No, having a variant in a tumor suppressor gene does not mean you will definitely develop cancer. It indicates a predisposition, and you should discuss the specific risks and surveillance options with a medical professional.
How is this variant detected?
This variant is typically identified through clinical genetic testing, such as sequencing of the SMARCB1 gene. This is usually performed in a clinical setting following a referral from a doctor.
What should I do if I have this variant?
If you have been informed that you carry this variant, you should consult with a genetic counselor or a specialist in hereditary cancer. They can provide personalized guidance based on your clinical history.
Sources & further reading
Educational information only, last refreshed 9/22/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Pathogenic variant associated with Rhabdoid tumor predisposition syndrome 1.
Pathogenic variant associated with Rhabdoid tumor predisposition syndrome 1.
Pathogenic variant associated with Rhabdoid tumor predisposition syndrome 1.