CHRD p.Gln608=
c.1824G>A · rs34052076 · VCV709674
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.59%, 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 3.9 | GERP 1, phastCons 1 |
| Overall | ||
| CADD | 5.229 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.59%
African / African-American · 2,694/75,048 alleles
Filtering AF
3.48%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.43%
Overall
0.232%
3,748/1,614,180 alleles · low-frequency
exomes 2,113/1,461,848 · genomes 1,635/152,332 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 3.59% | 28 |
| Middle Eastern | 1.04% | 96 |
| Admixed American | 0.427% | 234 |
| Remaining individualsnot grpmax-eligible | 0.413% | 242 |
| European (non-Finnish) | 0.0391% | 2,560 |
| South Asian | 0.0165% | 6,072 |
| Finnishnot grpmax-eligible | 0.00156% | 64,034 |
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
- CHRD
- Protein
- p.Gln608=
- Coding
- c.1824G>A
- MANE Select
- NM_003741
- dbSNP
- rs34052076
- Type
- single nucleotide variant
- Location
- chr3:184386051 (GRCh38)
- Gene constraint
- LOEUF 0.763 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 73.95 · 3 PDB
- Residue 608
- the chrd 4 domain
Similar variants
- CHRD p.Gly387Ser Benign ★★ same type
- CHRD p.Pro772= Benign ★★ same type
- CHRD p.Thr301= Benign ★★ same type
- CHRD p.Thr457Ser Likely benign ★★ same type
- CHRD p.Ala251Glu Uncertain significance ★ ⚠ same type
- CHRD p.Ala251Thr Uncertain significance ★ ⚠ same type
- CHRD p.Ala27Pro Uncertain significance ★ ⚠ same type
- CHRD p.Ala386Gly Uncertain significance ★ ⚠ 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/chrd-p-gln608 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown