CHD6 p.Arg2095=
c.6285C>T · rs143690698 · VCV722426
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0205%, 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 -5.4 | GERP -4.9 |
| Overall | ||
| CADD | 1.765 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0205%
African / African-American · 15/73,172 alleles
Filtering AF
0.0126%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0102%
Overall
0.00678%
106/1,563,332 alleles · ultra-rare
exomes 95/1,411,206 · genomes 11/152,126 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0205% | 4,878 |
| European (non-Finnish) | 0.00764% | 13,093 |
| Remaining individualsnot grpmax-eligible | 0.00332% | 30,124 |
| East Asian | 0.0023% | 43,510 |
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
- CHD6
- Protein
- p.Arg2095=
- Coding
- c.6285C>T
- MANE Select
- NM_032221
- dbSNP
- rs143690698
- Type
- single nucleotide variant
- Location
- chr20:41416789 (GRCh38)
- Gene constraint
- LOEUF 0.221 · pLI 1.00 (gnomAD)
Similar variants
- CHD6 p.Arg2095Gly Uncertain significance ★ ⚠ same residue
- CHD6 p.Arg2095His Uncertain significance ★ same residue
- CHD6 c.1858-19G>A Benign ★★ same type
- CHD6 c.554+5G>A Benign/Likely benign ★★ same type
- CHD6 c.852+4T>C Benign ★★ same type
- CHD6 p.Ala1205Gly Benign ★★ same type
- CHD6 p.Arg2389Cys Benign ★★ same type
- CHD6 p.Glu1271= Benign ★★ 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/chd6-p-arg2095 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown