CENPF p.Glu2491=
c.7473G>A · VCV3646018
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.176%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.66 | GERP -4.2, phastCons 0.98 |
| Overall | ||
| CADD | 0.448 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.176%
African / African-American · 132/75,018 alleles
Filtering AF
0.152%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.142%
Overall
0.00867%
140/1,613,966 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.176% | 568 |
| Remaining individualsnot grpmax-eligible | 0.008% | 12,499 |
| Admixed American | 0.00333% | 29,996 |
| European (non-Finnish) | 8.47e-05% | 1,179,970 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- CENPF
- Protein
- p.Glu2491=
- Coding
- c.7473G>A
- MANE Select
- NM_016343
- Type
- single nucleotide variant
- Location
- chr1:214647043 (GRCh38)
- Gene constraint
- LOEUF 0.734 · pLI <0.01 (gnomAD)
- Residue 2491
- the 'sufficient for centromere localization' region; the 'sufficient for self-association' region
Similar variants
- CENPF c.1195-2A>G Likely pathogenic ★★ same type
- CENPF c.1323+1G>A Pathogenic ★★ same type
- CENPF p.Arg1667Ter Pathogenic/Likely pathogenic ★★ same type
- CENPF p.Arg2407Ter Pathogenic/Likely pathogenic ★★ same type
- CENPF p.Arg2898Ter Pathogenic ★★ same type
- CENPF p.Arg3094Ter Likely pathogenic ★★ same type
- CENPF p.Glu1257Ter Pathogenic ★★ same type
- CENPF p.Glu361Ter Likely pathogenic ★★ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/cenpf-p-glu2491 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown