BACH1 p.Asp280=
c.840C>T · rs77477102 · VCV3046654
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.12%, afr)
Conditions
1
BACH1-related disorder
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 1.3 | GERP -3.9, phastCons 1 |
| Overall | ||
| CADD | 6.426 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.12%
African / African-American · 90/74,970 alleles
Filtering AF
0.1%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0925%
Overall
0.00706%
114/1,614,022 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.12% | 833 |
| Remaining individualsnot grpmax-eligible | 0.0096% | 10,417 |
| Admixed American | 0.00667% | 15,002 |
| European (non-Finnish) | 0.0011% | 90,769 |
| South Asian | 0.0011% | 91,070 |
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
- BACH1
- Protein
- p.Asp280=
- Coding
- c.840C>T
- MANE Select
- NM_032043 · reported on NM_001186
- dbSNP
- rs77477102
- Type
- single nucleotide variant
- Location
- chr21:29326664 (GRCh38)
- Structure
- AlphaFold pLDDT 64.19 · 6 PDB
- Residue 280
- the helicase atp-binding domain
Disease context
BACH1-related disorder
Similar variants
- BRIP1 p.Asp280Gly Uncertain significance ★★ same residue
- BRIP1 p.Asp280Tyr Uncertain significance ★★ ⚠ same residue
- BRIP1 p.Asp280Val Uncertain significance ★ ⚠ same residue
- BRIP1 c.918+1G>A Pathogenic/Likely pathogenic ★★ same condition
- BRIP1 p.Arg798Ter Pathogenic/Likely pathogenic ★★ same condition
- BRIP1 p.Gln414Ter Pathogenic/Likely pathogenic ★★ same condition
- BRIP1 p.Gln499Ter Pathogenic/Likely pathogenic ★★ same condition
- BRIP1 p.Ser624Ter Pathogenic/Likely pathogenic ★★ same condition
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/bach1-p-asp280 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown