SDCCAG8 p.Pro205=
c.615A>G · VCV4949727
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0165%, 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 -0.23 | GERP -1.2 |
| Overall | ||
| CADD | 3.015 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0165%
Middle Eastern · 1/6,062 alleles
Overall
0.000186%
3/1,614,066 alleles · ultra-rare
exomes 3/1,461,834 · genomes 0/152,232 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0165% | 6,062 |
| Finnishnot grpmax-eligible | 0.00156% | 64,010 |
| European (non-Finnish) | 8.47e-05% | 1,179,990 |
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
- SDCCAG8
- Protein
- p.Pro205=
- Coding
- c.615A>G
- MANE Select
- NM_006642
- Type
- single nucleotide variant
- Location
- chr1:243293159 (GRCh38)
- Gene constraint
- LOEUF 0.843 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 78.67
- Residue 205
- the 'disordered' region
Similar variants
- SDCCAG8 p.Pro205Ser Uncertain significance ★ ⚠ same residue
- SDCCAG8 c.1356+1G>C Likely pathogenic ★★ same type
- SDCCAG8 c.221-2A>G Pathogenic ★★ same type
- SDCCAG8 c.420+1G>C Likely pathogenic ★★ same type
- SDCCAG8 c.546+1G>A Likely pathogenic ★★ same type
- SDCCAG8 c.740+356C>T Pathogenic/Likely pathogenic ★★ same type
- SDCCAG8 p.Arg374Ter Pathogenic/Likely pathogenic ★★ same type
- SDCCAG8 p.Gln161Ter 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/sdccag8-p-pro205 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown