C8G p.Ser154=
c.462G>A · rs1486354585 · VCV3048877
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00446%, eas)
Conditions
1
C8G-related disorder
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 -13 | GERP -2.3 |
| Overall | ||
| CADD | 0.195 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00446%
East Asian · 2/44,794 alleles
Filtering AF
0.00074%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000367%
Overall
0.00081%
13/1,605,006 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.00446% | 22,397 |
| European (non-Finnish) | 0.000936% | 106,862 |
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
- C8G
- Protein
- p.Ser154=
- Coding
- c.462G>A
- MANE Select
- NM_000606
- dbSNP
- rs1486354585
- Type
- single nucleotide variant
- Location
- chr9:136946472 (GRCh38)
- Gene constraint
- LOEUF 1.809 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 90.06 · 15 PDB
- Residue 154
- a β-strand; a disulfide bond
Disease context
C8G-related disorder
Similar variants
- C8G c.276-10G>A Likely benign same condition
- C8G c.*5G>A Likely benign same condition
- C8G p.Ala70= Likely benign same condition
- C8G p.Ser18= Likely benign same condition
- C8G p.Tyr151= Likely benign same condition
- C8G p.Tyr185= Benign same condition
- C8G c.276-3dup Benign same condition
- C8G p.Thr6fs Likely 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/c8g-p-ser154 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown