CHRNG p.Cys83=
c.249C>T · rs376744239 · VCV3019466
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00401%, afr)
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 -4 | GERP -3 |
| Overall | ||
| CADD | 8.719 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00401%
African / African-American · 3/74,892 alleles
Filtering AF
0.00106%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000495%
Overall
0.000993%
16/1,611,416 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00401% | 24,964 |
| Admixed American | 0.00167% | 59,940 |
| European (non-Finnish) | 0.00102% | 98,318 |
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
- CHRNG
- Protein
- p.Cys83=
- Coding
- c.249C>T
- MANE Select
- NM_005199
- dbSNP
- rs376744239
- Type
- single nucleotide variant
- Location
- chr2:232540610 (GRCh38)
- Gene constraint
- LOEUF 1.286 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.91
Similar variants
- CHRNG p.Cys83Ter Likely pathogenic ★ same residue
- CHRNG c.1380+1G>A Pathogenic/Likely pathogenic ★★ same type
- CHRNG c.350+2T>C Pathogenic/Likely pathogenic ★★ same type
- CHRNG c.351-2A>G Likely pathogenic ★★ same type
- CHRNG c.56-1G>A Pathogenic ★★ same type
- CHRNG c.805+1G>A Likely pathogenic ★★ same type
- CHRNG p.Arg239Cys Pathogenic ★★ same type
- CHRNG p.Arg341Ter 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/chrng-p-cys83 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown