CFHR5 p.Ser207=
c.621A>G · VCV3717059
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.033%, mid)
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 -7.2 | GERP -3.1 |
| Overall | ||
| CADD | 0.006 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.033%
Middle Eastern · 2/6,052 alleles
Filtering AF
0.00583%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00242%
Overall
0.00062%
10/1,612,980 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.033% | 3,026 |
| Admixed American | 0.00667% | 14,997 |
| South Asian | 0.0011% | 91,058 |
| European (non-Finnish) | 0.000254% | 393,014 |
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
- CFHR5
- Protein
- p.Ser207=
- Coding
- c.621A>G
- MANE Select
- NM_030787
- Type
- single nucleotide variant
- Location
- chr1:196995730 (GRCh38)
- Gene constraint
- LOEUF 1.466 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 83.76
- Residue 207
- the sushi 4 domain
Similar variants
- CFHR5 c.430+5G>T Uncertain significance ★★ same type
- CFHR5 c.607+4A>G Uncertain significance ★★ same type
- CFHR5 c.608-3T>A Uncertain significance ★★ same type
- CFHR5 p.Arg132Gln Uncertain significance ★★ ⚠ same type
- CFHR5 p.Arg132Trp Uncertain significance ★★ ⚠ same type
- CFHR5 p.Arg354Gly Uncertain significance ★★ ⚠ same type
- CFHR5 p.Arg356Cys Uncertain significance ★★ ⚠ same type
- CFHR5 p.Arg364Ser 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/cfhr5-p-ser207 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown