PANK2 rs138410292: Understanding This Genetic Variant
The rs138410292 variant is located within the PANK2 gene, which provides instructions for making an enzyme essential for coenzyme A metabolism. This specific variant is studied in the context of neurodegeneration with brain iron accumulation (NBIA), a rare group of inherited neurological disorders.
What each genotype means
Typical risk profile
You carry two copies of the common reference allele for this position in the PANK2 gene. You are not a carrier of the pathogenic founder variant linked to classic pantothenate kinase-associated neurodegeneration (PKAN) at this site. Because PKAN is an autosomal recessive condition caused by diverse mutations across PANK2, this result significantly reduces your carrier risk for this specific founder allele, though it does not eliminate risk for other rare variants.
Carried by over 99.9% of individuals across most global populations, though slightly lower in specific founder cohorts.
PKAN carrier status
You carry one copy of the pathogenic founder variant in the PANK2 gene. As pantothenate kinase-associated neurodegeneration (PKAN) is inherited in an autosomal recessive manner, carriers typically do not experience symptoms or neurodegeneration themselves. However, if you have children with another carrier of a pathogenic PANK2 variant, there is a 25% chance of passing on the condition to your offspring.
Carried by approximately 1 in 1,500 individuals globally (gnomAD MAF ~0.0003), but occurs at substantially higher frequencies in specific founder populations such as Dominican cohorts.
Pathogenic PKAN genotype
You carry two copies of the pathogenic PANK2 founder variant. Biallelic alterations in PANK2 disrupt mitochondrial pantothenate kinase 2 and coenzyme A synthesis, which is clinically associated with severe childhood-onset neurodegeneration with brain iron accumulation (PKAN). Because presentation and progression can be complex, comprehensive evaluation and management should be discussed with a neurologist and medical geneticist.
Extremely rare globally, estimated at less than 1 in 1,000,000 individuals, but found at higher incidence in specific isolated or founder communities.
What is the rs138410292 Variant?
The rs138410292 variant is a single nucleotide polymorphism (SNP) found within the PANK2 gene, located on chromosome 20. In genetics, a SNP represents a variation at a single position in the DNA sequence. While most genetic variations are harmless, some can alter the function of the proteins they encode. Researchers track these variants to understand their potential impact on human health. Because rs138410292 is located in a gene associated with rare metabolic conditions, it is often included in specialized genetic screening panels. It is important to note that the presence of a variant does not automatically imply a health condition; rather, it serves as a data point that scientists use to study the genetic architecture of rare diseases.
The Role of the PANK2 Gene
The PANK2 gene encodes the enzyme pantothenate kinase 2. This enzyme is critical for the synthesis of coenzyme A, a vital molecule involved in numerous metabolic processes within the body, particularly in the brain. When the PANK2 gene contains pathogenic mutations, it can lead to a deficiency in this enzyme, which is believed to disrupt normal cellular function. This disruption is the primary cause of pantothenate kinase-associated neurodegeneration (PKAN), a form of neurodegeneration with brain iron accumulation (NBIA). In these conditions, iron abnormally accumulates in specific regions of the brain, such as the globus pallidus, which can lead to progressive movement disorders and neurological decline. Understanding how PANK2 variants affect enzyme activity is a major focus of ongoing research into these complex disorders.
Research and Evidence Strength
The evidence linking specific PANK2 variants to clinical disease is often categorized as limited or specific to certain populations. While PANK2 mutations are well-established as the cause of PKAN, not every variant identified in the gene is pathogenic. Research into rs138410292 is ongoing, and its clinical significance is evaluated by comparing it against known pathogenic mutations and observing its frequency in both healthy populations and those with diagnosed conditions. Because NBIA is a rare, autosomal recessive disorder, it typically requires two copies of a pathogenic mutation—one from each parent—to manifest symptoms. Consequently, the presence of a single variant in a carrier does not typically result in the disease. Always consult with a medical geneticist or a qualified healthcare provider to interpret the results of any genetic test in the context of your personal and family medical history.
Population Frequency and Distribution
Genetic variants like rs138410292 are generally rare in the global population. According to data from the Genome Aggregation Database (gnomAD), the minor allele frequency is approximately 0.0003. However, frequency can vary significantly across different ancestral groups. In some cases, specific variants may be more common in founder populations—groups that originated from a small number of ancestors. Researchers use these frequency data to estimate the prevalence of PANK2-related conditions, which are estimated to occur in roughly 2 per 1 million live births globally. These statistics are essential for public health planning and for understanding the distribution of genetic traits across diverse human populations. It is important to remember that population-level data provides a broad context and cannot predict the specific health outcomes for an individual.
What You Can Do With This Information
If you have received information about the rs138410292 variant through a genetic screening report, the most important step is to discuss the findings with a healthcare professional, such as a genetic counselor or a medical geneticist. They can help you understand what the result means for you and your family, especially if you are considering family planning or have concerns about neurological health. Genetic information is complex, and results should never be used to self-diagnose or make medical decisions without expert guidance. A clinician can provide context, order confirmatory testing if necessary, and explain the implications of carrier status. Remember that genetic testing is a tool for information, and professional medical advice is essential for interpreting how that information applies to your unique health situation.
How common is this variant?
The rs138410292 variant is rare, with a minor allele frequency of approximately 0.0003 in the gnomAD database, though it may be higher in specific founder cohorts.
Frequently asked questions
Is rs138410292 a cause of PKAN?
While PANK2 mutations are the primary cause of PKAN, the clinical significance of every individual variant must be assessed by a professional. You should consult a genetic counselor to understand if this specific variant is considered pathogenic.
What does it mean to be a carrier of a PANK2 variant?
Being a carrier typically means you have one copy of a variant, but do not show symptoms of the associated recessive condition. Carriers may pass the variant to their children, which is why genetic counseling is recommended for family planning.
How is neurodegeneration with brain iron accumulation diagnosed?
Diagnosis is typically based on a combination of clinical symptoms, family history, and specialized imaging like MRI to detect iron accumulation in the brain. Genetic testing is used to confirm the presence of mutations in genes like PANK2.
Can I use this information to predict my future health?
Genetic variants are only one piece of the puzzle regarding your health. You should never use genetic data to predict future health outcomes without discussing the results with a qualified medical professional.
Sources & further reading
Educational information only, last refreshed 10/13/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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