BACH2 p.Ser436del
c.1300TCC[1] · VCV4708188
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00223%, eas)
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 4.2 | GERP 1.5, phastCons 1 |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00223%
East Asian · 1/44,860 alleles
Filtering AF
0.000124%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 9e-05%
Overall
0.000434%
7/1,614,138 alleles · very rare
exomes 7/1,461,858 · genomes 0/152,280 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.00223% | 44,860 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,512 |
| European (non-Finnish) | 0.000424% | 236,006 |
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
- BACH2
- Protein
- p.Ser436del
- Coding
- c.1300TCC[1]
- MANE Select
- NM_021813
- Type
- Microsatellite
- Location
- chr6:89950801 (GRCh38)
- Gene constraint
- LOEUF 0.164 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 54.66 · 2 PDB
Similar variants
- BACH2 p.Ser436= Likely benign ★ same residue
- BACH2 p.Arg795del Uncertain significance ★ same type
- BACH2 p.Glu164del Uncertain significance ★ same type
- BACH2 p.Phe433del Uncertain significance ★ same type
- BACH2 p.Ser247del 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-ser436del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown