CENPF
Chr 1ARcentromere protein F
Also known as: CENF, CILD31, PRO1779, STROMS, hcp-1
The encoded protein is a component of the centromere-kinetochore complex that associates with kinetochores from late G2 through early anaphase and is essential for proper chromosome segregation during mitosis. Loss-of-function mutations cause Stromme syndrome, an autosomal recessive disorder characterized by intestinal atresia, microcephaly, and ocular abnormalities. The pathogenic mechanism involves de novo dominant effects despite the recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
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
599 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 | 0 | 4 | 0 | 15 |
Likely Pathogenic | 18 | 0 | 0 | 0 | 18 |
VUS | 1 | 380 | 6 | 0 | 387 |
Likely Benign | 0 | 30 | 14 | 75 | 119 |
Benign | 0 | 4 | 6 | 3 | 13 |
Conflicting | — | 18 | |||
| Total | 30 | 414 | 30 | 78 | 570 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CENPF · 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