COLEC10
Chr 8ARcollectin subfamily member 10
Also known as: 3MC3, CL-10, CL-34, CLL1
This gene encodes a cytosolic lectin that binds to various sugars and acts as a chemoattractant involved in regulating cell migration. Mutations cause 3MC syndrome 3, a developmental disorder with craniofacial, skeletal, and other congenital anomalies. The condition follows autosomal recessive inheritance.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
126 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 | 3 | 1 | 56 | 0 | 60 |
Likely Pathogenic | 1 | 1 | 0 | 0 | 2 |
VUS | 0 | 43 | 8 | 0 | 51 |
Likely Benign | 0 | 4 | 0 | 4 | 8 |
Benign | 0 | 0 | 1 | 2 | 3 |
| Total | 4 | 49 | 65 | 6 | 124 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
COLEC10 · 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
Chimeric Antigen Receptor T-cells for The Treatment of AML Expressing CLL-1 Antigen
ACTIVE NOT RECRUITINGClinical Study on the Safety, Efficacy and Pharmacokinetics of Universal CLL1 Chimeric Antigen Receptor T-Cell in Relapsed/Refractory Acute Myeloid Leukemia
NOT YET RECRUITINGPhase I Clinical Study: BG1805 Injection in the Treatment of Relapsed or Refractory Acute Myeloid Leukemia
RECRUITINGBG1805 Injection in the Treatment of Relapsed or Refractory Acute Myeloid Leukemia in Children
NOT YET RECRUITINGA Clinical Study to Evaluate the Safety and Efficacy of CLL1 and CD38 Dual-Target CAR-T Cell Injection in the Treatment of Relapsed or Refractory Acute Myeloid Leukemia
RECRUITINGClinical Study of CLL-1 CAR-T in the Treatment of Children With R/R AML
NOT YET RECRUITINGMulti-CAR T Cell Therapy for Acute Myeloid Leukemia
RECRUITINGMultiple CAR-T Cell Therapy Targeting AML
RECRUITINGExternal Resources
Links to major genomics databases and tools