CFB c.1408+7A>C
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 7 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.15%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +7 | near-intronic (+7 nt from the splice site) · inside the BP7-excluded zone |
|---|---|---|
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 1.6 | GERP -0.045 |
| Non-coding constraint | Z 3.31 | 1 kb window · o/e 0.77 · regional · uncalibrated |
| Overall | ||
| CADD | 4.665 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.15%
African / African-American · 866/75,058 alleles
Filtering AF
1.09%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.06%
Overall
0.0642%
1,035/1,612,990 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.15% | 87 |
| Middle Eastern | 0.148% | 674 |
| Admixed American | 0.135% | 741 |
| Remaining individualsnot grpmax-eligible | 0.109% | 919 |
| South Asian | 0.011% | 9,107 |
| European (non-Finnish) | 8.47e-05% | 1,180,038 |
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
- CFB
- Coding
- c.1408+7A>C
- MANE Select
- NM_001710
- dbSNP
- rs4151656
- Type
- single nucleotide variant
- Location
- chr6:31949564 (GRCh38)
- Gene constraint
- LOEUF 0.719 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.54 · 28 PDB
Similar variants
- CFB c.2140-1G>C Uncertain significance ★★ same type
- CFB c.-3G>A Uncertain significance ★★ same type
- CFB p.Ala162Val Uncertain significance ★★ ⚠ same type
- CFB p.Ala289Val Uncertain significance ★★ ⚠ same type
- CFB p.Ala567Gly Uncertain significance ★★ ⚠ same type
- CFB p.Arg117Trp Uncertain significance ★★ ⚠ same type
- CFB p.Arg138Gln Uncertain significance ★★ ⚠ same type
- CFB p.Arg138Trp Uncertain significance ★★ ⚠ 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/cfb-c-1408-plus-7a-c (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown