C12ORF57
Chr 12ARchromosome 12 open reading frame 57
Also known as: C10, GRCC10
This protein is required for corpus callosum development in the brain and is ubiquitously expressed across human tissues. Mutations cause Temtamy syndrome, which is inherited in an autosomal recessive pattern. The gene shows low constraint against loss-of-function variants (pLI ~0, LOEUF 1.86), consistent with its recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
363 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 | 11 | 2 | 45 | 0 | 58 |
Likely Pathogenic | 7 | 2 | 7 | 0 | 16 |
VUS | 5 | 88 | 36 | 1 | 130 |
Likely Benign | 0 | 0 | 67 | 60 | 127 |
Benign | 0 | 0 | 17 | 1 | 18 |
Conflicting | — | 8 | |||
| Total | 23 | 92 | 172 | 62 | 357 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
C12ORF57 · 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