What you carry at this position in your DNA and what research says about it.
Multiple Myeloma Risk: 9/10 evidence, 18 publications.
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Sample genotype (not yours): G/G
Typical Multiple Myeloma Risk
Carrying two copies of the reference G allele is associated with typical baseline risk for multiple myeloma. It is also linked to normal levels of B-cell maturation antigen and typical immunoglobulin G levels.
What this genotype means: Typical risk of multiple myeloma; Normal B-cell maturation antigen levels; Standard immunoglobulin G levels.
Sample genotype (not yours): A/A
Elevated Multiple Myeloma Risk
Carrying two copies of the A allele is associated with an elevated risk of multiple myeloma. This genotype also drives higher levels of B-cell maturation antigen and lower immunoglobulin G levels.
What this genotype means: Elevated risk of multiple myeloma; Higher B-cell maturation antigen levels; Lower immunoglobulin G levels.
Sample genotype (not yours): G/A
Moderately Increased Multiple Myeloma Risk
Carrying one copy of the A allele is associated with a moderately increased risk of multiple myeloma. It also leads to slightly elevated levels of B-cell maturation antigen and slightly lower immunoglobulin G levels.
What this genotype means: Moderately increased risk of multiple myeloma; Elevated B-cell maturation antigen levels; Slightly lower immunoglobulin G levels.
Gene function and biological role
Gene Function: The TNFRSF13B gene encodes a transmembrane receptor protein called TACI, which plays a critical role in B-cell development and survival [1]. This receptor interacts with specific ligands to regulate the production of antibodies and maintain humoral immunity [1]. While loss-of-function mutations in this gene are well-known causes of common variable immunodeficiency, other variations can lead to overactivity [1] [2]. Overactive signaling can drive excessive B-cell proliferation and survival, potentially predisposing cells to malignant transformation [2]. Understanding the genetic variations in this receptor helps clarify the balance between immune deficiency and blood cancers [2].
Variant Impact: The rs34562254 variant represents a missense change in the TNFRSF13B gene, substituting the amino acid proline with leucine at position 251 (p.Pro251Leu). This specific molecular alteration acts as a gain-of-function mutation, amplifying downstream B-cell signaling pathways [1]. The altered receptor leads to significantly elevated levels of circulating B-cell maturation antigen (BCMA) and interleukin-5 receptor alpha [1]. While typical loss-of-function variants in this gene impair immune responses, this gain-of-function variant increases the risk of plasma cell malignancies [1] [3]. It represents a key genetic link between normal immune regulation and the development of multiple myeloma [1].
Key Insight: While most mutations in this gene cause immune deficiencies, this specific variant does the opposite by boosting B-cell activity, which inadvertently increases the risk of multiple myeloma.
Location: TNFRSF13B. Chromosome 17 · 17p11.2 · 16.9 Mb
Estimated prevalence by population
Global 76.4%; European 80.0%; African 75.0%; East Asian 35.7%; South Asian 71.2%; Americas 77.2%; Ashkenazi 73.9%; Finnish 81.2%; Middle Eastern 83.7%; Amish 63.8%.
Estimated GG genotype frequency.
Global 21.7%; European 18.9%; African 23.2%; East Asian 48.1%; South Asian 26.4%; Americas 21.4%; Ashkenazi 24.1%; Finnish 17.8%; Middle Eastern 15.6%; Amish 32.1%.
Estimated GA genotype frequency.
Global 1.9%; European 1.1%; African 1.8%; East Asian 16.2%; South Asian 2.4%; Americas 1.5%; Ashkenazi 2.0%; Finnish 1.0%; Middle Eastern 0.7%; Amish 4.0%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Cancer & Oncology
Blood Cancers
Multiple Myeloma. Evidence: 9/10. Source: PMID 39103364. Typical Risk.
Immunity & Inflammation
Inflammatory & Circulating Protein Markers
BCMA Levels. Evidence: 10/10. Source: PMID 39789286. Typical.
Immunoglobulin G Levels. Evidence: 6/10. Source: PMID 28628107. Typical.
Nutrition & Metabolism
Blood Chemistry & Metabolites
Total Protein Levels. Evidence: 10/10. Source: PMID 39414775. Typical.
Cardiovascular & Metabolic
Blood Cell & Iron Traits
Red Blood Cell Density. Evidence: 8/10. Source: PMID 32888493. Typical.
Showing effects for A/A genotype
Multiple Myeloma. Evidence: 9/10. Source: PMID 39103364. Elevated Risk.
BCMA Levels. Evidence: 10/10. Source: PMID 39789286. Higher.
Immunoglobulin G Levels. Evidence: 6/10. Source: PMID 28628107. Lower.
Total Protein Levels. Evidence: 10/10. Source: PMID 39414775. Higher.
Red Blood Cell Density. Evidence: 8/10. Source: PMID 32888493. Lower.
Showing effects for G/A genotype
Multiple Myeloma. Evidence: 9/10. Source: PMID 39103364. ~1.3x Risk.
BCMA Levels. Evidence: 10/10. Source: PMID 39789286. Elevated.
Immunoglobulin G Levels. Evidence: 6/10. Source: PMID 28628107. Slightly Lower.
Total Protein Levels. Evidence: 10/10. Source: PMID 39414775. Slightly Higher.
Red Blood Cell Density. Evidence: 8/10. Source: PMID 32888493. Slightly Lower.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Proline is maintained at position 251 of the TACI receptor, ensuring normal B-cell signaling and typical antibody production [1]. This common genotype does not carry the gain-of-function risk associated with the variant leucine amino acid [2]. Consequently, baseline risk for plasma cell malignancies like multiple myeloma remains typical [2]. Circulating levels of B-cell maturation antigen (BCMA) are also maintained within the normal range [3]. Immunoglobulin G levels, which are crucial for fighting infections, show typical baseline concentrations [1]. Overall, this genotype represents the standard genetic profile for B-cell receptor activity in most populations.
Typical risk of multiple myeloma; Normal B-cell maturation antigen levels; Standard immunoglobulin G levels.
Sample genotype: AA (Homozygous)
Substituting proline with leucine on both copies of the TACI receptor maximizes the gain-of-function signaling effect [1]. This double dose of the variant significantly amplifies B-cell survival and proliferation pathways, increasing susceptibility to multiple myeloma [1] [2]. The risk is driven by a pronounced increase in circulating B-cell maturation antigen (BCMA) levels [3]. Concurrently, plasma levels of immunoglobulin G are typically lower, reflecting altered antibody distribution or production [4]. Total protein levels in the blood may also be elevated due to increased paraprotein production [5]. This homozygous profile is most frequently observed in East Asian ancestries, where the variant allele is highly prevalent.
Elevated risk of multiple myeloma; Higher B-cell maturation antigen levels; Lower immunoglobulin G levels.
Sample genotype: GA (Heterozygous)
Having one copy of the leucine-encoding A allele introduces a gain-of-function effect in the TACI receptor [1]. This altered receptor amplifies B-cell survival signals, leading to a modest increase in the risk of developing multiple myeloma [1] [2]. Studies indicate that carriers of this variant have an odds ratio of approximately 1.3 for plasma cell malignancies [2]. The variant also drives elevated levels of circulating B-cell maturation antigen (BCMA) in the blood [3]. Interestingly, while B-cell activity is amplified, overall immunoglobulin G levels tend to be slightly lower [4]. This genotype is relatively common, particularly in East Asian populations where the minor allele frequency reaches about 40%.
Moderately increased risk of multiple myeloma; Elevated B-cell maturation antigen levels; Slightly lower immunoglobulin G levels.
Variants with shared genetic architecture
rs72553883 · TNFRSF13B Gene · Chr 17 · Antibody Deficiency Risk
rs34557412 · TNFRSF13B Gene · Chr 17 · Immunodeficiency Risk
rs879882 · POU5F1 Gene · Chr 6 · Cancer and Diabetes Risk
Deciphering the genetics and mechanisms of predisposition to multiple myeloma.
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
Identification of sequence variants influencing immunoglobulin levels.
A scalable variational inference approach for increased mixed-model association power.
Genetic architecture of routinely acquired blood tests in a British South Asian cohort.
Content updated August 2026.
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