ENG rs1064793889: Understanding This Rare Genetic Variant
The genetic variant rs1064793889 is located within the ENG gene, which provides instructions for making the endoglin protein. This variant has been identified in individuals diagnosed with hereditary hemorrhagic telangiectasia (HHT), a condition characterized by abnormal blood vessel development.
What each genotype means
Typical ENG gene profile
This genotype represents the common, non-pathogenic sequence for this specific location in the ENG gene. It is not associated with the development of hereditary hemorrhagic telangiectasia (HHT) based on current clinical research.
This is the most common genotype found in the general population across all ancestries.
Potential HHT risk variant
This genotype indicates the presence of a variant in the ENG gene that has been associated with hereditary hemorrhagic telangiectasia (HHT), an autosomal dominant vascular disorder. Because HHT is a multisystemic condition, individuals with this finding should consult with a clinical geneticist or a specialist familiar with HHT to discuss the clinical significance of this specific variant in the context of their personal and family health history.
This specific variant is rare and is not commonly found in the general population.
Potential HHT risk variant
This genotype indicates the presence of two copies of a variant in the ENG gene associated with hereditary hemorrhagic telangiectasia (HHT). HHT is typically inherited in an autosomal dominant manner, meaning a single copy is often sufficient to manifest the condition, and individuals with this finding should seek professional medical evaluation to assess their risk for vascular anomalies and related symptoms.
This genotype is extremely rare in the general population.
What is the rs1064793889 Variant?
The rs1064793889 variant is a specific change in the DNA sequence of the ENG gene. In genomics, an rsID (reference SNP cluster ID) acts as a unique identifier for a specific location in the human genome where a variation has been observed. This particular variant is categorized as a trait-associated marker. It is important to understand that the presence of a variant does not automatically imply a diagnosis. Instead, researchers study these markers to understand how specific changes in our genetic code might influence biological processes or contribute to the development of certain health conditions. Because this variant is rare, it is not typically included in standard, broad-spectrum consumer genetic tests. Its identification usually occurs within the context of targeted clinical genetic panels designed to investigate specific symptoms or family histories related to vascular health.
The Role of the ENG Gene
The ENG gene is responsible for producing a protein called endoglin. Endoglin is primarily found on the surface of endothelial cells, which are the cells that line the interior of blood vessels. This protein plays a critical role in the transforming growth factor-beta (TGF-beta) signaling pathway, which is essential for maintaining the structural integrity of blood vessels and regulating the formation of new blood vessels, a process known as angiogenesis. When the ENG gene is altered, it can lead to a reduction in functional endoglin protein, a concept known as haploinsufficiency. Without enough functional endoglin, the signaling pathways that keep blood vessels stable may be disrupted. This instability can lead to the formation of arteriovenous malformations, where blood flows directly from arteries to veins without passing through the small capillaries that normally slow the blood flow and reduce pressure.
Research and Evidence Strength
Current research associates variants in the ENG gene with hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome. HHT is an autosomal dominant disorder, meaning that a single copy of a pathogenic variant is often sufficient to influence the development of the condition. The evidence linking ENG mutations to HHT is considered high, as the gene is a primary focus in clinical diagnostic panels for the condition. However, the specific evidence strength for the individual variant rs1064793889 is classified as moderate. This indicates that while the variant has been observed in clinical settings among individuals with HHT, ongoing research is required to fully characterize its functional impact and penetrance. It is essential to distinguish between a variant being present and a variant being the definitive cause of a clinical phenotype, as genetic testing results must always be interpreted by a qualified medical professional in the context of a patient's full clinical presentation.
Navigating Genetic Information
If you have received information about this variant, it is important to understand what you can and cannot do with it. Genetic data is complex and should never be used for self-diagnosis or to make independent medical decisions. If you are concerned about HHT or other vascular conditions, the most appropriate step is to consult with a genetic counselor or a physician who specializes in vascular genetics. They can help you understand the clinical significance of your results, discuss the necessity of further diagnostic testing, and explain how this information might affect your family members. Because this variant is rare, it is not a standard marker in general wellness reports. If you have questions about your health, focus on your clinical symptoms and family history, and use genetic information only as a tool to facilitate a productive conversation with your healthcare provider.
How common is this variant?
The rs1064793889 variant is classified as rare in the general population. Its frequency is not widely distributed across common ancestry groups, and it is typically identified only in specific clinical cohorts.
Frequently asked questions
What is hereditary hemorrhagic telangiectasia (HHT)?
HHT is a genetic disorder that causes abnormal blood vessel formation, leading to issues like frequent nosebleeds and skin lesions. It is caused by mutations in genes like ENG or ACVRL1 that regulate vascular stability.
Does having this variant mean I have HHT?
No, having a genetic variant does not automatically mean you have a disease. Clinical diagnosis of HHT is based on specific criteria, such as physical symptoms and family history, which should be evaluated by a doctor.
Should I get tested for this variant?
Genetic testing is usually recommended only if you have symptoms of HHT or a strong family history of the condition. You should discuss the risks and benefits of testing with a genetic counselor.
Is there a cure for HHT?
While there is no cure for the underlying genetic cause of HHT, many of its symptoms can be managed effectively. Treatments focus on preventing bleeding and managing complications related to vascular malformations.
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.