GJA8 p.Cys61=
c.183C>T · rs782213276 · VCV292463
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00339%, nfe)
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 -1.4 | GERP -0.43 |
| Overall | ||
| CADD | 10.25 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00339%
European (non-Finnish) · 40/1,180,030 alleles
Filtering AF
0.00255%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00225%
Overall
0.0026%
42/1,614,096 alleles · very rare
exomes 38/1,461,866 · genomes 4/152,230 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00339% | 29,501 |
| East Asian | 0.00223% | 44,890 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,488 |
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
- GJA8
- Protein
- p.Cys61=
- Coding
- c.183C>T
- MANE Select
- NM_005267
- dbSNP
- rs782213276
- Type
- single nucleotide variant
- Location
- chr1:147908138 (GRCh38)
- Gene constraint
- LOEUF 1.304 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 65.85
- Residue 61
- a disulfide bond
Similar variants
- GJA8 p.Arg76His Likely pathogenic ★★ same type
- GJA8 p.Asp47His Pathogenic/Likely pathogenic ★★ same type
- GJA8 p.Gly22Arg Likely pathogenic ★★ same type
- GJA8 p.Gly22Ser Pathogenic/Likely pathogenic ★★ same type
- GJA8 p.Gly46Glu Pathogenic ★★ same type
- GJA8 p.Gly60Ser Pathogenic/Likely pathogenic ★★ same type
- GJA8 p.Pro88Ala Pathogenic/Likely pathogenic ★★ same type
- GJA8 p.Pro88Gln 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/gja8-p-cys61 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown