BACH2 p.Arg795del
c.2379GAG[1] · VCV3687422
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.1 | GERP -3.1, phastCons 1 |
Variant & gene context
- Gene
- BACH2
- Protein
- p.Arg795del
- Coding
- c.2379GAG[1]
- MANE Select
- NM_021813
- Type
- Microsatellite
- Location
- chr6:89932550 (GRCh38)
- Gene constraint
- LOEUF 0.164 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 54.66 · 2 PDB
- Residue 795
- the 'disordered' region
Similar variants
- BACH2 p.Arg795= Likely benign ★ same residue
- BACH2 p.Glu164del Uncertain significance ★ same type
- BACH2 p.Phe433del Uncertain significance ★ same type
- BACH2 p.Ser247del Uncertain significance ★ same type
- BACH2 p.Ser436del Uncertain significance ★ same type
- BACH2 c.2044-21_2044-20del Likely benign ★ same type
- BACH2 c.-12-18TTTC[3] Likely benign ★ same type
- BACH2 c.-12-18TTTC[5] Likely 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/bach2-p-arg795del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown