CCDC18 p.Glu670=
c.2010A>G · rs201591350 · VCV3048752
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.328%, afr)
Conditions
1
CCDC18-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.353 | indeterminate |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 4.5 | GERP 0.48, phastCons 1 |
| Overall | ||
| CADD | 8.444 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.328%
African / African-American · 238/72,644 alleles
Filtering AF
0.293%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.28%
Overall
0.017%
269/1,578,408 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.328% | 305 |
| Middle Eastern | 0.0837% | 1,194 |
| Remaining individualsnot grpmax-eligible | 0.0262% | 3,811 |
| Admixed American | 0.0157% | 6,389 |
| South Asian | 0.00121% | 82,782 |
| European (non-Finnish) | 8.56e-05% | 1,168,702 |
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
- CCDC18
- Protein
- p.Glu670=
- Coding
- c.2010A>G
- MANE Select
- NM_001378204
- dbSNP
- rs201591350
- Type
- single nucleotide variant
- Location
- chr1:93221656 (GRCh38)
- Gene constraint
- LOEUF 0.901 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 71.83
Disease context
CCDC18-related disorder
Similar variants
- CCDC18 c.2982-6T>C Likely benign same condition
- CCDC18 c.569+9A>G Benign same condition
- CCDC18 p.Ala153= Likely benign same condition
- CCDC18 p.Arg1108= Benign same condition
- CCDC18 p.Arg1108Ser Benign same condition
- CCDC18 p.Arg1281= Benign same condition
- CCDC18 p.Arg429Cys Benign same condition
- CCDC18 p.Asn314= Benign same condition
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/ccdc18-p-glu670 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown