AMHR2 rs121913348: Understanding Persistent Müllerian Duct Syndrome
The rs121913348 variant is a rare genetic alteration located within the AMHR2 gene. It is associated with persistent Müllerian duct syndrome (PMDS), a condition where individuals with a 46,XY karyotype retain female reproductive structures like a uterus and fallopian tubes.
What each genotype means
Typical AMHR2 function
This genotype represents the common, functional version of the AMHR2 gene. Individuals with this profile do not carry the specific inactivating mutation associated with persistent Müllerian duct syndrome at this location.
This is the most common genotype found in the general population across all ancestries.
Carrier of variant
This genotype indicates you carry one copy of the rare inactivating variant and one functional copy of the gene. Because persistent Müllerian duct syndrome is an autosomal recessive condition, carriers typically do not exhibit symptoms of the disorder.
This genotype is extremely rare, as the pathogenic variant itself is found in less than 0.01% of the population according to gnomAD data.
Increased risk of PMDS
This genotype indicates you carry two copies of the inactivating variant, which is associated with persistent Müllerian duct syndrome (PMDS) type II. This condition is a rare disorder of sexual development in males where Müllerian structures, such as a uterus or fallopian tubes, persist despite otherwise normal male sexual differentiation.
This genotype is exceptionally rare and is not expected to be found in the general population at any significant frequency.
What is the rs121913348 Variant?
The rs121913348 variant is a specific change in the DNA sequence of the AMHR2 gene, which is located on the long arm of chromosome 12. In the context of human genetics, this variant is categorized as a rare pathogenic mutation. It is identified by its unique reference SNP cluster ID (rsID) in public databases. This variant specifically affects the instructions for building the anti-Müllerian hormone receptor type 2 protein. When this genetic code is altered, the resulting protein may be dysfunctional, misfolded, or fail to reach the cell surface where it is needed to perform its biological role. Because this variant is extremely rare, it is not typically included in standard consumer genetic testing panels, and its presence is usually investigated only in clinical settings following specific medical findings related to reproductive development.
The Role of the AMHR2 Gene
The AMHR2 gene provides the blueprint for the anti-Müllerian hormone receptor type 2. During typical male fetal development, the testes produce anti-Müllerian hormone (AMH). This hormone binds to the AMHR2 receptor on the surface of cells within the Müllerian ducts—structures that are precursors to the uterus and fallopian tubes in females. When AMH successfully binds to the AMHR2 receptor, it triggers a signal that causes these ducts to regress or disappear. This process is essential for normal male sexual differentiation. If the AMHR2 gene contains a mutation that prevents the receptor from functioning correctly, the signal for the ducts to disappear is never received. Consequently, the Müllerian ducts persist, leading to the development of female reproductive organs in an individual who otherwise has male external genitalia and a 46,XY chromosomal makeup.
Research and Clinical Associations
Research strongly associates pathogenic variants in the AMHR2 gene with persistent Müllerian duct syndrome (PMDS) type II. Clinical studies have documented that individuals with these variants often present with bilateral cryptorchidism (undescended testes) and inguinal hernias. The evidence for the link between AMHR2 dysfunction and PMDS is well-established in medical literature, as the receptor's failure to facilitate the regression of Müllerian structures is a direct cause of the syndrome. While the association is clear, the clinical presentation can vary, and some cases may involve additional, less common features such as skeletal or craniofacial dysmorphism. It is important to note that PMDS is a rare disorder, and the specific impact of any single variant is determined by its effect on protein function. Clinicians use genetic testing to confirm these diagnoses when physical examinations and imaging suggest the presence of retained Müllerian remnants.
Population Frequency and Interpretation
The rs121913348 variant is classified as a rare pathogenic mutation. According to population databases like gnomAD, the frequency of this variant is extremely low, typically reported as less than 0.0001. Because it is so rare, it is not considered a common polymorphism in the general population. The rarity of the variant means that most individuals will not carry it. When it is identified, it is usually in the context of a clinical investigation into a specific disorder of sexual development. Because the variant is rare and its clinical significance is tied to specific developmental outcomes, it is not a marker used for general health screening or predicting common traits. If you or a family member have received a report mentioning this variant, it is essential to consult with a genetic counselor or a specialist in reproductive endocrinology to understand the specific clinical implications for your health.
What You Can Do With This Information
Genetic information regarding rare variants like rs121913348 is highly specialized and should be interpreted within a clinical context. If you have concerns about reproductive health or developmental history, the most appropriate step is to consult a healthcare professional, such as a urologist, endocrinologist, or a clinical geneticist. They can provide context based on your personal and family medical history, which is far more informative than a single genetic variant result. Do not attempt to diagnose yourself or others based on genetic data found online. If this variant was identified through a clinical test, your medical team will guide you on the next steps, which may include further hormonal evaluation or imaging. Always discuss any medical questions or concerns with your clinician, as they are the only ones qualified to provide medical advice or interpret genetic findings in relation to your specific health needs.
How common is this variant?
The rs121913348 variant is a rare pathogenic mutation with a frequency in gnomAD of less than 0.0001 across all populations.
Frequently asked questions
What is persistent Müllerian duct syndrome?
Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sexual development in 46,XY individuals. It is characterized by the presence of a uterus and fallopian tubes in an individual who otherwise has normal male external genitalia.
Is rs121913348 common?
No, this variant is extremely rare. It is not a common genetic variation found in the general population.
Can I test for this variant at home?
Most direct-to-consumer genetic tests do not screen for rare, clinical-grade variants like rs121913348. If you have clinical concerns, you should speak with a doctor about professional diagnostic testing.
What should I do if I have this variant?
If you have been identified as a carrier or have this variant, you should consult with a genetic counselor or a medical specialist. They can help you understand what this means for your health and reproductive development.
Does this variant cause infertility?
Variants in the AMHR2 gene are associated with PMDS, which can be linked to cryptorchidism and other reproductive issues. You should discuss any concerns regarding fertility with a reproductive specialist.
Sources & further reading
Educational information only, last refreshed 10/15/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs121913348?
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 AMHR2
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.
Pathogenic loss-of-function variant in AMHR2 associated with persistent Müllerian duct syndrome in genetic males.