MRTFB p.Asn47=
c.141C>T · rs79629931 · VCV710820
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.463%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -7.7 | GERP -4.1 |
| Overall | ||
| CADD | 6.311 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.463%
European (non-Finnish) · 5,469/1,179,984 alleles
Filtering AF
0.453%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.449%
Overall
0.375%
6,052/1,613,960 alleles · rare
exomes 5,671/1,461,834 · genomes 381/152,126 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.463% | 216 |
| Remaining individualsnot grpmax-eligible | 0.392% | 255 |
| Admixed American | 0.328% | 305 |
| Amishnot grpmax-eligible | 0.219% | 456 |
| South Asian | 0.0604% | 1,656 |
| African / African-American | 0.0547% | 1,829 |
| Finnishnot grpmax-eligible | 0.0531% | 1,882 |
| Middle Eastern | 0.0495% | 2,021 |
| East Asian | 0.00892% | 11,213 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00676% | 14,801 |
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
- MRTFB
- Protein
- p.Asn47=
- Coding
- c.141C>T
- MANE Select
- NM_001308142
- dbSNP
- rs79629931
- Type
- single nucleotide variant
- Location
- chr16:14140747 (GRCh38)
- Gene constraint
- LOEUF 0.351 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 53.38
Similar variants
- MRTFB p.Ser643= Benign ★★ same type
- MRTFB p.Thr9= Benign ★★ same type
- MRTFB p.Ala91Pro Pathogenic ★ same type
- MRTFB p.Leu160Pro Likely pathogenic ★ same type
- MRTFB c.693+1G>T Uncertain significance ★ same type
- MRTFB p.Ala1080Val Uncertain significance ★ same type
- MRTFB p.Ala138Glu Uncertain significance ★ same type
- MRTFB p.Ala17Thr 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/mrtfb-p-asn47 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown