CFB c.897+7T>C
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0502%, mid)
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 -0.44 | GERP -1.6 |
| Non-coding constraint | Z 3.78 | 1 kb window · o/e 0.74 · regional · uncalibrated |
| Overall | ||
| CADD | 1.926 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0502%
Middle Eastern · 3/5,978 alleles
Filtering AF
0.0136%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00728%
Overall
0.000274%
4/1,461,694 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0502% | 1,993 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,488 |
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.897+7T>C
- MANE Select
- NM_001710
- dbSNP
- rs1327258503
- Type
- single nucleotide variant
- Location
- chr6:31948088 (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-897-plus-7t-c (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown