BEST1 rs61750248: Understanding This Rare Genetic Variant
The rs61750248 variant is a rare genetic change in the BEST1 gene that alters the structure of the bestrophin-1 protein. This specific missense variant is associated with Best vitelliform macular dystrophy, an inherited condition that affects the central part of the retina.
What each genotype means
Typical BEST1 function
This genotype represents the common, non-pathogenic sequence for this position in the BEST1 gene. Individuals with this profile do not carry the specific p.Tyr227Asn mutation associated with Best vitelliform macular dystrophy.
This is the most common genotype found in the general population across all ancestries.
Pathogenic variant carrier
This genotype indicates the presence of one copy of the p.Tyr227Asn pathogenic variant. Because this condition is typically inherited in an autosomal dominant manner, carrying one copy is associated with an increased risk of developing Best vitelliform macular dystrophy, a condition that disrupts chloride channel function in the eye.
This genotype is extremely rare, with a global minor allele frequency reported as less than 0.00005 in large population databases.
Pathogenic homozygous profile
This genotype indicates the presence of two copies of the p.Tyr227Asn pathogenic variant. Research into BEST1-related disorders suggests that carrying two copies of a pathogenic mutation can lead to more severe or distinct clinical phenotypes, such as autosomal recessive bestrophinopathy, compared to single-copy carriers.
This genotype is exceptionally rare and is not typically observed in general population cohorts.
What is the rs61750248 Variant?
The rs61750248 variant is a specific change in the DNA sequence of the BEST1 gene, located on the long arm of chromosome 11. In genetic terms, this is a missense variant, meaning it results in a single amino acid substitution—specifically, the replacement of tyrosine with asparagine at position 227 (p.Tyr227Asn) in the resulting protein. Because this variant is located within the coding region of the gene, it has the potential to alter the function of the protein it encodes. Geneticists track this specific location using the reference SNP ID rs61750248. It is classified as a rare variant, meaning it is found at an extremely low frequency in the general population. Understanding such variants is a key part of genomic research, as they help scientists map the relationship between specific DNA sequences and human health traits.
The Role of the BEST1 Gene
The BEST1 gene provides instructions for making a protein called bestrophin-1. This protein is primarily found in the retinal pigment epithelium (RPE), a layer of cells located just beneath the light-sensitive retina at the back of the eye. Bestrophin-1 functions as a calcium-dependent chloride channel, which is essential for maintaining the proper environment for retinal cells. By regulating the flow of chloride ions, this protein helps control the fluid balance and electrical properties of the RPE. When the BEST1 gene is functioning correctly, it supports the health and survival of photoreceptor cells, which are responsible for vision. Disruptions to this protein, such as those caused by pathogenic variants, can interfere with these critical cellular processes, potentially leading to the accumulation of fluid or debris in the macula, the area of the retina responsible for sharp, central vision.
Research and Clinical Associations
Research has linked pathogenic variants in the BEST1 gene to a group of conditions known as bestrophinopathies. The rs61750248 variant is specifically associated with Best vitelliform macular dystrophy (BVMD), an autosomal dominant condition. In individuals with this condition, the RPE cells fail to function optimally, often leading to the formation of a yellow, egg-yolk-like lesion in the macula. While over 250 pathogenic variants have been identified in the BEST1 gene, the evidence for any single variant's impact is often derived from clinical case studies and family-based genetic testing. Because these conditions are rare, the strength of evidence for specific variants like rs61750248 is often categorized as limited or based on clinical observation rather than large-scale population studies. It is important to note that the presence of a variant does not guarantee a specific clinical outcome, as factors like genetic background and environmental influences can also play a role.
What This Information Means for You
If you have encountered information about the rs61750248 variant, it is important to understand that this is a rare, pathogenic finding typically identified through specialized clinical genetic testing. This information is for educational purposes and should not be used to diagnose or treat any medical condition. Genetic variants in the BEST1 gene are complex, and their clinical significance can only be accurately interpreted by a qualified healthcare professional, such as a genetic counselor or an ophthalmologist specializing in retinal diseases. If you have concerns about your vision or a family history of macular dystrophy, you should consult with a medical professional. They can provide appropriate clinical evaluations, such as electrophysiological testing or retinal imaging, which are the standard methods for assessing retinal health. Never make health decisions based solely on raw genetic data; always seek guidance from a clinician who can place your results in the context of your overall health.
How common is this variant?
The rs61750248 variant is extremely rare, with a global minor allele frequency (MAF) reported in gnomAD as less than 0.00005.
Frequently asked questions
What is Best vitelliform macular dystrophy?
Best vitelliform macular dystrophy is an inherited eye disorder that affects the macula, the center of the retina. It can cause progressive vision loss and is characterized by the accumulation of yellowish material under the retina.
Is rs61750248 common in the general population?
No, this variant is very rare. It is not a common polymorphism found in the general population and is typically only identified in individuals undergoing clinical genetic testing for specific retinal conditions.
Can I use a home DNA test to check for this variant?
Most consumer-grade DNA tests do not screen for rare, pathogenic variants like rs61750248. If you are concerned about a genetic eye condition, you should speak with a doctor about clinical-grade genetic testing.
What should I do if I have this variant?
If you have been informed that you carry this variant, you should consult with an ophthalmologist or a genetic counselor. They can provide a clinical assessment and discuss what this means for your eye health.
Sources & further reading
Educational information only, last refreshed 9/17/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs61750248?
Upload a raw DNA file from 23andMe, AncestryDNA, MyHeritage, or FamilyTreeDNA and see this variant — plus thousands more — interpreted in your full report.
Get my report — $29Related variants in BEST1
Encodes the Thr6Arg (T6R) missense change in Bestrophin 1 associated with autosomal dominant Best vitelliform macular dystrophy.
A missense alteration in bestrophin-1 linked to Best vitelliform macular dystrophy and central visual impairment.
Pathogenic missense variant in BEST1 (p.Ala146Thr) linked to autosomal dominant Best vitelliform macular dystrophy causing progressive loss of central vision.
Missense mutation in BEST1 causing classical Best vitelliform macular dystrophy type 2.
Pathogenic missense mutation (p.Arg218Cys) in bestrophin-1 causing Best vitelliform macular dystrophy with subretinal egg-yolk-like lesions.
Pathogenic missense variant (p.Thr6Arg) in BEST1 altering the bestrophin-1 channel causing autosomal dominant Best vitelliform macular dystrophy.