RSRC2 rs752134549: Genetics, ClinVar, and Health Traits
The single nucleotide polymorphism rs752134549 is an extremely rare missense variant located within the RSRC2 gene on human chromosome 12. Clinically evaluated in public repositories like ClinVar, this variation has been studied for potential links to neurodevelopmental phenotypes and body mass index quantitative trait locus 11. Because it is observed at negligible frequencies across global populations, current evidence regarding its exact biological consequences remains preliminary.
What each genotype means
Common reference genotype
This is the most frequently observed genotype in the general population. It is considered the reference sequence for the RSRC2 gene at this location.
This is the predominant genotype found in the vast majority of individuals across all global populations.
Heterozygous carrier status
You carry one copy of the variant allele associated with potential neurodevelopmental and metabolic traits. Because this variant is extremely rare, its clinical significance in a heterozygous state is not fully established, and you should discuss any specific health concerns with a medical professional.
This genotype is extremely rare in general population databases, appearing in only a tiny fraction of individuals.
Rare variant genotype
You carry two copies of the variant allele, which has been identified in clinical databases in association with neurodevelopmental phenotypes and body mass index traits. Given the rarity of this genotype, the clinical impact is uncertain, and it is recommended to consult with a genetic counselor or physician to interpret these findings in the context of your personal health history.
This genotype is exceptionally rare and is not typically observed in standard population frequency datasets.
Genomic Identity and Molecular Characterization
The genetic marker rs752134549 represents a single nucleotide alteration situated on chromosome 12 (specifically mapped to 12q24.31). Within the reference assembly, the canonical nucleotide at this position is cytosine (C), whereas the reported variant allele is thymine (T), resulting in a genomic transition designated as c.C>T in the primary coding sequence. This change produces a missense mutation within the arginine and serine rich coiled-coil 2 (RSRC2) gene, substituting one amino acid for another in the resulting protein sequence. Because coding missense changes have the biological potential to alter protein folding, secondary coiled-coil structure, or intermolecular binding affinities, researchers track variants like rs752134549 to determine whether functional deficits emerge in human cellular pathways.
Biological Function of the RSRC2 Gene
The RSRC2 gene encodes a specialized nuclear protein characterized by arginine- and serine-rich (RS) motifs alongside a coiled-coil domain. In molecular biology, RS-domain proteins frequently participate in pre-messenger RNA splicing, transcriptional regulation, and cellular cycle fidelity. Research indicates that RSRC2 functions in part as an RNA-binding factor that helps maintain mitotic stability, interacting with regulatory non-coding RNAs during cell division. Expression studies demonstrate that RSRC2 is present across numerous human tissues, including brain regions and metabolically active tissues. Disruption of spliceosomal or cell-cycle components often impairs rapid developmental processes, leading researchers to examine RSRC2 as a plausible candidate gene when investigating congenital atypical development or systemic metabolic differences.
Clinical Evaluations and Studied Phenotypes
In genetic archives such as ClinVar, rs752134549 has appeared in clinical evaluation records where it was historically categorized with potential relevance to complex traits, including Body Mass Index Quantitative Trait Locus 11 (BMIQ11) as well as neurodevelopmental presentations such as developmental delay, autistic traits, seizures, and ocular phenotypes like strabismus or myopia. However, the available scientific evidence tying rs752134549 directly to these conditions remains limited and preliminary. Most records derive from isolated clinical submissions or case reports rather than large-scale, replicated genome-wide association studies. Because complex quantitative traits such as body mass index and multifaceted neurodevelopmental conditions involve hundreds of interacting genes and environmental influences, scientists emphasize that a single rare variant cannot yet be conclusively labeled as definitively causative.
Population Frequency and Database Insights
According to broad population reference databases such as the Genome Aggregation Database (gnomAD) and the 1000 Genomes Project, rs752134549 is an exceptionally rare allele in the general global population. The overwhelming majority of individuals across all major continental ancestries—including European, African, East Asian, South Asian, and Latino cohorts—carry two copies of the standard reference C allele. The variant T allele appears with an allele frequency far below 0.01%, qualifying it as an ultra-rare variant. Its extreme scarcity makes large-scale statistical replication challenging, as most standard commercial consumer genotyping microarrays do not reliably capture it or lack the statistical power to infer broad clinical risks from individual occurrences.
Translating Genetic Findings Responsibly
Encountering a rare variant like rs752134549 on an exome sequencing panel or raw genetic data export does not constitute a medical diagnosis. Genetic classifications in public repositories are subject to continuous reclassification under American College of Medical Genetics and Genomics (ACMG) guidelines as more ancestral cohorts are sequenced. This genetic finding should never be interpreted in isolation or used to self-manage medical conditions, weight management regimens, or pharmacological choices. Anyone exploring personal or familial health concerns regarding developmental traits or metabolic factors should review clinical-grade genetic test results in consultation with a board-certified genetic counselor or licensed medical professional.
How common is this variant?
The rs752134549 variant is extremely rare in general population databases like gnomAD, with the alternate T allele observed at frequencies near zero across all documented ancestral groups.
Frequently asked questions
What is rs752134549?
The marker rs752134549 is a rare missense genetic variant located in the RSRC2 gene on human chromosome 12. It alters a single base pair in the DNA sequence, leading to a modified amino acid in the encoded protein.
Does carrying rs752134549 mean a person will develop a medical disorder?
No. The presence of this variant does not confirm a clinical diagnosis. Evidence connecting it to conditions like obesity or neurodevelopmental phenotypes is preliminary and based on sparse clinical observations rather than definitive causation.
How common is the rs752134549 variant in the general population?
It is an ultra-rare variant. Global databases such as gnomAD show that almost everyone carries the reference CC genotype, with the variant allele seen only in rare individual cases.
What does the RSRC2 gene do?
The RSRC2 gene codes for an arginine- and serine-rich coiled-coil protein involved in RNA binding, pre-mRNA splicing, and cell division fidelity. Scientists continue to investigate its exact functional roles across various human tissues.
What should I do if this variant appears in my raw DNA data?
Raw consumer DNA outputs can produce false positives on rare variants. You should share your findings with a clinical geneticist or genetic counselor, who can order validated diagnostic testing and provide individualized interpretation.
Sources & further reading
Educational information only, last refreshed 9/7/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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