ENG rs150932144: What Your Genotype Means
The genetic variant rs150932144 is located within the ENG gene, which provides instructions for making the endoglin protein. This specific variant has been identified in clinical research as being associated with hereditary hemorrhagic telangiectasia (HHT), a condition characterized by abnormal blood vessel development.
What each genotype means
Typical ENG genotype
This is the common, reference genotype for this position in the ENG gene. It is not associated with the pathogenic changes linked to hereditary hemorrhagic telangiectasia (HHT) at this specific site.
This is the most common genotype observed across all global populations.
Potential HHT risk carrier
This genotype indicates the presence of one copy of the T allele, which is classified as pathogenic in clinical databases. Because HHT is an autosomal dominant condition, individuals with this variant should consult with a genetic counselor or physician to discuss clinical screening and family history.
This genotype is rare and typically identified in clinical settings rather than the general population.
Associated with HHT risk
This genotype involves two copies of the T allele, which is documented as a pathogenic variant in the ENG gene. This variant is associated with hereditary hemorrhagic telangiectasia (HHT) and primary pulmonary hypertension; please discuss these findings with a medical professional for appropriate clinical evaluation.
This genotype is extremely rare in the general population.
Understanding the SNP and Its Location
The variant rs150932144 is a single nucleotide polymorphism (SNP) situated on chromosome 9 at position 127,825,744. In the context of human genetics, a SNP represents a variation at a single position in the DNA sequence among individuals. This specific location falls within the ENG gene, which is located on the long arm of chromosome 9 (9q3.3-q3.4). Because this variant is located within a gene that is critical for vascular health, researchers monitor it closely to understand how changes in the DNA sequence might alter the function of the resulting protein. Genetic databases like dbSNP catalog this variant to help scientists track its presence across different populations and its potential impact on human health.
The Role of the ENG Gene
The ENG gene encodes a protein called endoglin, which is a type III receptor for transforming growth factor-beta (TGF-beta). Endoglin is primarily expressed on the surface of endothelial cells, which are the cells that line the interior surface of blood vessels. It plays a vital role in the TGF-beta signaling pathway, which is essential for the development, proliferation, and migration of these cells. When the ENG gene is functioning correctly, it helps maintain the structural integrity of blood vessels. However, when mutations or variants disrupt the production or function of endoglin, it can lead to vascular dysplasia. This disruption is a primary cause of HHT type 1, a condition where blood vessels may form improperly, leading to symptoms such as recurrent nosebleeds and arteriovenous malformations.
Research Associations and Evidence
Research into rs150932144 has linked it to hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome. Clinical evidence, including data found in the ClinVar database, classifies this variant as pathogenic in the context of HHT1. HHT is an autosomal dominant disorder, meaning that a single copy of a pathogenic variant is typically sufficient to increase the risk of developing the condition. The evidence for this association is considered moderate to strong in clinical literature, as it is part of a broader group of over 900 mutations identified in the ENG and ACVRL1 genes that contribute to the disease. While the association is well-documented in clinical settings, it is important to note that the presence of a variant does not guarantee a specific clinical outcome, as individual health is influenced by a complex interplay of genetics and environment.
Population Frequency and Prevalence
The variant rs150932144 is classified as rare in the general population. Because HHT is a relatively uncommon condition, the specific pathogenic variants associated with it are typically found at very low frequencies across global ancestries. Recent studies estimating the prevalence of HHT using data from large-scale genomic projects like gnomAD suggest that the combined allele frequency of pathogenic variants in the ENG and ACVRL1 genes is quite low, often estimated in the range of a few individuals per several thousand. This rarity means that the variant is not commonly encountered in the general population, and its identification is usually limited to clinical diagnostic testing for individuals or families presenting with symptoms of vascular dysplasia.
Interpreting Genetic Information
Information regarding genetic variants like rs150932144 is intended for educational purposes and should not be used for self-diagnosis or medical decision-making. If you have concerns about your genetic health or a family history of vascular conditions, it is essential to consult with a qualified healthcare professional, such as a genetic counselor or a specialist in vascular medicine. They can provide context based on your personal medical history and guide you through appropriate diagnostic testing if necessary. Genetic information is complex, and clinical interpretation requires professional expertise to understand the implications for your health. Never make changes to your medical care or lifestyle based solely on information found in genetic databases or online resources without first discussing it with your clinician.
How common is this variant?
The variant rs150932144 is considered rare, with pathogenic variants in the ENG gene occurring at very low frequencies across all major ancestral populations.
Frequently asked questions
What is hereditary hemorrhagic telangiectasia (HHT)?
HHT is an inherited disorder that causes abnormal blood vessel formation, often leading to frequent nosebleeds and vascular malformations in organs like the lungs or brain. It is typically caused by mutations in genes like ENG or ACVRL1.
Is rs150932144 a cause of HHT?
Yes, this variant is associated with HHT type 1. Clinical databases classify it as pathogenic, meaning it is linked to the development of the condition.
Should I get tested for this variant?
Genetic testing is usually recommended by a doctor if you or your family members show symptoms of HHT. You should discuss the necessity and implications of such testing with a genetic counselor.
Can I change my risk if I have this variant?
While you cannot change your genetic sequence, knowing your status can help you and your doctor monitor your health more effectively. Early detection and management of vascular issues are key to managing the condition.
Sources & further reading
Educational information only, last refreshed 10/1/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Genetic variant identified in the ENG gene, relevant for clinical screening of vascular disorders.
A known pathogenic mutation in the ENG gene linked to vascular malformations.
Pathogenic variant in the ENG gene associated with hereditary hemorrhagic telangiectasia type 1.
A variant in the ENG gene potentially impacting protein function related to vascular development.
This variant is located within the ENG gene, which is associated with hereditary hemorrhagic telangiectasia.
Clinically significant variant in the ENG gene associated with hereditary hemorrhagic telangiectasia.