NLRP7 rs104895502: What Your Genotype Means
The rs104895502 variant is a genetic change located within the NLRP7 gene. It is primarily studied for its potential association with recurrent hydatidiform moles, a rare form of pregnancy loss characterized by abnormal placental development.
What each genotype means
Common genetic profile
This genotype represents the most frequently observed sequence at this position in the NLRP7 gene. It is generally considered the baseline state in the absence of specific pathogenic mutations associated with reproductive conditions.
This is the most common genotype found across global populations.
Heterozygous genetic profile
This genotype indicates that one copy of the gene carries the C allele and the other carries the G allele. The clinical significance of this specific heterozygous state is not well-established, and it is often observed in individuals without reproductive complications.
This genotype is observed at a low frequency in the general population.
Rare genetic profile
This genotype indicates that both copies of the gene carry the G allele. While NLRP7 variants are linked to recurrent hydatidiform moles, the specific impact of this homozygous state remains under investigation and is not definitively classified as pathogenic in all contexts.
This genotype is rare and infrequently reported in large-scale population databases.
Understanding the Variant and Its Location
The variant rs104895502 is a single nucleotide polymorphism (SNP) situated on the long arm of chromosome 19 at position 19q13.4. This region contains the NLRP7 gene, which encodes a protein belonging to the nucleotide-binding oligomerization domain (NOD)-like receptor family. SNPs are common variations in the DNA sequence where a single building block, or nucleotide, is replaced by another. While many SNPs are neutral, some occur in regions that are critical for biological function. In the case of rs104895502, researchers are interested in how this specific change might influence the protein's role in reproductive health. Because this variant is located in a gene highly expressed in reproductive tissues, it has been a subject of investigation regarding its potential impact on early embryonic development.
The Role of the NLRP7 Gene
The NLRP7 gene is essential for female reproductive processes, specifically in the establishment and maintenance of maternal imprinting. Genomic imprinting is a biological process where certain genes are expressed in a parent-of-origin-specific manner, which is vital for normal fetal and placental development. Research indicates that NLRP7 is involved in regulating the maternal germline and ensuring that embryos receive the correct epigenetic instructions. When the function of this gene is disrupted, it can lead to failures in early pregnancy, such as the development of hydatidiform moles. These are abnormal pregnancies where the placenta develops into a mass of cysts rather than a healthy fetus. Studies have shown that while NLRP7 mutations can have significant effects on female reproduction, they do not appear to have similar adverse effects on male reproductive outcomes.
Research Associations and Evidence Strength
The association between NLRP7 variants and reproductive wastage is well-documented in clinical literature, particularly regarding recurrent hydatidiform moles. However, the evidence for the specific variant rs104895502 is considered limited. While some variants in NLRP7 are clearly pathogenic, the clinical significance of individual, rare variants remains a subject of ongoing scientific debate. Some studies suggest that certain heterozygous variants may contribute to reproductive failure, but more data are required to fully understand the penetrance and expressivity of these changes. It is important to note that not all individuals with a variant in this gene will experience the same reproductive outcomes. Because the field is still evolving, researchers emphasize that genetic testing results should be interpreted with caution and in the context of a patient's full clinical history.
Population Frequency and Clinical Context
The rs104895502 variant is classified as rare in the general population. Because it is not a common polymorphism, it is not typically found in large-scale population screening studies at high frequencies. The rarity of this variant makes it difficult to establish definitive statistical associations across diverse ancestral groups. In clinical settings, testing for NLRP7 variants is usually reserved for individuals or couples who have experienced recurrent pregnancy loss or hydatidiform moles. If you have received information about this variant, it is essential to discuss the findings with a genetic counselor or a reproductive specialist. They can provide context based on your personal and family medical history, helping you understand what this information means for your reproductive health and what, if any, clinical steps are appropriate.
How common is this variant?
The rs104895502 variant is rare across all major ancestral populations. Due to its low frequency, it is not commonly observed in the general public.
Frequently asked questions
What is a hydatidiform mole?
A hydatidiform mole is a rare complication of pregnancy where the placenta develops abnormally, often forming fluid-filled cysts. It prevents the normal development of a fetus and requires medical management.
Does having this variant mean I cannot have children?
No, having a genetic variant does not automatically determine your ability to have children. You should consult with a reproductive endocrinologist or genetic counselor to discuss your specific situation and reproductive options.
Is rs104895502 the only cause of pregnancy loss?
No, recurrent pregnancy loss is a complex condition with many potential causes, including chromosomal, hormonal, and anatomical factors. Genetic variants in NLRP7 are only one of many areas that researchers investigate.
Should I get tested for this variant?
Genetic testing is typically recommended by a physician based on your personal or family medical history. If you are concerned about reproductive health, speak with your doctor about whether testing is appropriate for you.
Sources & further reading
Educational information only, last refreshed 9/18/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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