MAFB p.Asp213=
c.639C>T · rs17853698 · VCV1649915
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0159%, eas)
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 2.6 | GERP -0.76, phastCons 1 |
| Overall | ||
| CADD | 12.57 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0159%
East Asian · 7/44,124 alleles
Filtering AF
0.00737%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00522%
Overall
0.000503%
8/1,589,202 alleles · ultra-rare
exomes 7/1,436,852 · genomes 1/152,350 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0159% | 6,303 |
| Admixed American | 0.00172% | 58,182 |
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
- MAFB
- Protein
- p.Asp213=
- Coding
- c.639C>T
- MANE Select
- NM_005461
- dbSNP
- rs17853698
- Type
- single nucleotide variant
- Location
- chr20:40688212 (GRCh38)
- Gene constraint
- LOEUF 0.469 · pLI 0.98 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 63.87
Similar variants
- MAFB p.Pro59Leu Pathogenic/Likely pathogenic ★★ same type
- MAFB p.Pro63Leu Pathogenic ★★ same type
- MAFB p.Ser54Leu Pathogenic ★★ ⚠ same type
- MAFB p.Ser69Leu Pathogenic/Likely pathogenic ★★ same type
- MAFB p.Ser70Leu Pathogenic/Likely pathogenic ★★ same type
- MAFB p.Thr62Ala Pathogenic ★★ same type
- MAFB c.-77C>G Uncertain significance ★★ same type
- MAFB p.Ala107Thr 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/mafb-p-asp213 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown