DDC p.Ser194=
c.582A>G · VCV4683267
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 8.47e-05%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.046 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
| Constraint at this position | ||
| Conservation | phyloP -14 | GERP -5.4 |
| Overall | ||
| CADD | 0.017 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
8.47e-05%
European (non-Finnish) · 1/1,179,988 alleles
Overall
6.2e-05%
1/1,614,088 alleles · very rare
exomes 1/1,461,820 · genomes 0/152,268 · joint denominator
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
- DDC
- Protein
- p.Ser194=
- Coding
- c.582A>G
- MANE Select
- NM_001082971
- Type
- single nucleotide variant
- Location
- chr7:50528269 (GRCh38)
- Gene constraint
- LOEUF 0.922 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 96.88 · 8 PDB
- Residue 194
- an α-helix
Similar variants
- DDC c.1041+1G>A Pathogenic/Likely pathogenic ★★ same type
- DDC c.201+1G>C Likely pathogenic ★★ same type
- DDC c.201+5G>C Pathogenic/Likely pathogenic ★★ same type
- DDC c.714+4A>T Pathogenic ★★ same type
- DDC p.Ala275Thr Pathogenic/Likely pathogenic ★★ same type
- DDC p.Ala91Val Pathogenic/Likely pathogenic ★★ same type
- DDC p.Arg160Trp Pathogenic/Likely pathogenic ★★ same type
- DDC p.Arg347Gln Pathogenic/Likely pathogenic ★★ 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/ddc-p-ser194 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown