AMHR2 rs121913345: Understanding This Rare Genetic Variant
The rs121913345 variant is a rare genetic change located within the AMHR2 gene. It is primarily studied for its association with persistent Müllerian duct syndrome, a condition affecting sexual development in genetic males.
What each genotype means
Typical AMHR2 function
This genotype represents the common, functional version of the AMHR2 gene. Individuals with this profile produce the receptor necessary for normal Müllerian duct regression during male embryonic development.
This is the most common genotype found in the general population.
Carrier of variant
This genotype indicates you carry one copy of a rare variant in the AMHR2 gene. Because persistent Müllerian duct syndrome is an autosomal recessive condition, carriers typically do not exhibit symptoms, though they may pass the variant to their offspring.
This genotype is ultra-rare, occurring in less than 0.01% of the general population.
Potential AMHR2 deficiency
This genotype indicates the presence of two copies of a rare variant, which may disrupt the function of the AMHR2 protein. In genetic males, this is associated with persistent Müllerian duct syndrome, where Müllerian structures like a uterus or fallopian tubes may persist; please consult with a medical geneticist or specialist to discuss clinical implications.
This genotype is extremely rare and is not typically observed in the general population.
What is the rs121913345 Variant?
The rs121913345 variant is a specific change in the DNA sequence of the AMHR2 gene. In genetics, an rsID (reference SNP cluster ID) like rs121913345 acts as a unique identifier for a specific location in the human genome. This variant is categorized as a loss-of-function mutation, meaning it disrupts the normal instructions the gene provides to the body. Because this variant is extremely rare, it is not typically included in standard consumer ancestry or health trait reports. It is primarily identified through clinical genetic testing when individuals or families seek answers regarding specific disorders of sexual development. Understanding this variant requires looking at the specific protein-coding instructions it alters, which can prevent the body from correctly interpreting biological signals during early development.
The Role of the AMHR2 Gene
The AMHR2 gene provides instructions for making a protein called the anti-Müllerian hormone receptor type 2. During typical male fetal development, the testes produce a substance called anti-Müllerian hormone (AMH). This hormone binds to the AMHR2 receptor, which acts like a lock-and-key mechanism to signal the regression of the Müllerian ducts. These ducts are embryonic structures that would otherwise develop into a uterus and fallopian tubes. When the AMHR2 gene functions correctly, this signaling process ensures these structures disappear in males. If the receptor is defective due to a variant, the signal is not received, and the Müllerian ducts may persist. This biological pathway is essential for typical male sexual differentiation, and disruptions here are the primary cause of persistent Müllerian duct syndrome (PMDS).
Research and Clinical Associations
Research into rs121913345 and other AMHR2 variants is grounded in clinical studies of persistent Müllerian duct syndrome (PMDS). PMDS is a rare condition where individuals with a 46,XY karyotype (typically male) possess internal female reproductive organs, such as a uterus and fallopian tubes, alongside normal male external genitalia. The evidence linking pathogenic variants in AMHR2 to this condition is considered strong in clinical genetics. Studies often identify these variants in patients who present with undescended testes or inguinal hernias, which are common clinical findings in PMDS. Because this is a recessive condition, an individual typically needs to inherit a variant from both parents to manifest the clinical features. Current research focuses on identifying these mutations to provide accurate diagnoses for families and to better understand the molecular mechanisms of sexual development.
What You Can and Cannot Do With This Information
Genetic information regarding rare variants like rs121913345 is highly specialized and should be interpreted only by qualified medical professionals, such as clinical geneticists or genetic counselors. If you have received a report mentioning this variant, it is important to understand that this information is not a diagnosis on its own. Genetic testing results must be correlated with physical examinations, medical history, and other diagnostic tests. You cannot use this information to self-diagnose or predict health outcomes without expert guidance. If you are concerned about reproductive health or developmental conditions, consult with a healthcare provider who can explain the implications of your specific genetic findings. They can provide context on inheritance patterns, potential health impacts, and the availability of appropriate clinical management or support services.
How common is this variant?
The rs121913345 variant is ultra-rare in the general population, with a frequency of less than 0.0001 in the gnomAD database.
Frequently asked questions
What is persistent Müllerian duct syndrome?
Persistent Müllerian duct syndrome is a rare disorder of sexual development in 46,XY individuals. It is characterized by the presence of a uterus and fallopian tubes in a person who otherwise has male external genitalia.
Is rs121913345 common?
No, this variant is considered ultra-rare. It is not found in the vast majority of the human population.
How is this variant inherited?
Variants in the AMHR2 gene associated with PMDS are typically inherited in an autosomal recessive pattern. This means an affected individual usually inherits one copy of the variant from each parent.
Should I be worried if I have this variant?
Genetic variants should always be discussed with a healthcare professional or a genetic counselor. They can provide context based on your personal and family medical history.
Sources & further reading
Educational information only, last refreshed 10/16/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Pathogenic variant in AMHR2 associated with Persistent Müllerian Duct Syndrome (PMDS).
Promoter polymorphism (-482 A>G) in the AMH receptor type II gene associated with altered follicular responsiveness to gonadotropins during controlled ovarian stimulation.
Receptor inactivating variant causing persistent Müllerian duct syndrome with bilateral cryptorchidism and inguinal hernias.