MYD88
Chr 3ARMYD88 innate immune signal transduction adaptor
Also known as: IMD68, MYD88D, WM1
This gene encodes a cytosolic adapter protein that plays a central role in the innate and adaptive immune response. This protein functions as an essential signal transducer in the interleukin-1 and Toll-like receptor signaling pathways. These pathways regulate that activation of numerous proinflammatory genes. The encoded protein consists of an N-terminal death domain and a C-terminal Toll-interleukin1 receptor domain. Patients with defects in this gene have an increased susceptibility to pyogenic bacterial infections. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene — mechanism propensity
The highest-scoring mechanism for this gene is gain-of-function.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
193 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 2 | 1 | 1 | 0 | 4 |
Likely Pathogenic | 2 | 1 | 0 | 0 | 3 |
VUS | 4 | 70 | 10 | 0 | 84 |
Likely Benign | 0 | 10 | 28 | 46 | 84 |
Benign | 0 | 3 | 1 | 3 | 7 |
Conflicting | — | 2 | |||
| Total | 8 | 85 | 40 | 49 | 184 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →11 pathogenic / likely-pathogenic (of 19) ClinVar copy-number / structural variants overlap MYD88 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →
Protein Context — Lollipop Plot
MYD88 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Ibrutinib Before and After Stem Cell Transplant in Treating Patients With Relapsed or Refractory Diffuse Large B-cell Lymphoma
ACTIVE NOT RECRUITINGStudy of the Effect of Innate on the Inflammatory Response to Endotoxin
RECRUITINGPrognostic Analyses on a Validation Series of Patients With Waldenström's Disease
RECRUITINGIbrutinib Followed by BR (Bendamustine and Rituximab) as a Time-Limited Therapy for Waldenström Macroglobulinemia
NOT YET RECRUITINGStudy of HMPL-760 Plus R-GemOx Versus Placebo Plus R-GemOx in Relapsed/Refractory DLBCL
ACTIVE NOT RECRUITINGAnti-inflammatory Activities of Vitamin C Supplementation on the Gut Barrier Function in Adults With Obesity
RECRUITINGIbrutinib + Venetoclax in Untreated WM
ACTIVE NOT RECRUITINGA Phase III Study of HMPL-760 Plus R-GemOx VS Placebo Plus R-GemOx in Relapsed/Refractory DLBCL
RECRUITINGPrognostic Value of Circulating Tumoral DNA After the First 6 Months of Treatment in Patients With Waldenström Macroglobulinemia
RECRUITINGExternal Resources
Links to major genomics databases and tools