CLEC10A
Chr 17C-type lectin domain containing 10A
Also known as: CD301, CLECSF13, CLECSF14, DC-ASGPR, HML, HML2, MGL
The protein is a C-type lectin receptor that recognizes specific sugar structures on cell surfaces and plays a critical role in immune cell communication and antigen presentation by dendritic cells. Mutations in this gene cause autosomal recessive ataxia-telangiectasia-like disorder, characterized by progressive cerebellar ataxia, immunodeficiency, and increased cancer susceptibility typically beginning in early childhood. This gene is not highly constrained against loss-of-function variants, and the disorder primarily affects the nervous and immune systems.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
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
70 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 | 0 | 0 | 18 | 0 | 18 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 29 | 7 | 0 | 36 |
Likely Benign | 0 | 5 | 0 | 0 | 5 |
Benign | 0 | 1 | 0 | 0 | 1 |
| Total | 0 | 35 | 26 | 0 | 61 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CLEC10A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools