BMF p.Asn179=
c.537C>T · VCV4214223
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.395%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.061 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -3.5 | GERP -3.3 |
| Overall | ||
| CADD | 0.211 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.395%
African / African-American · 296/74,846 alleles
Filtering AF
0.358%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.344%
Overall
0.0248%
399/1,608,558 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.395% | 253 |
| Admixed American | 0.0621% | 1,612 |
| Remaining individualsnot grpmax-eligible | 0.0466% | 2,146 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0407% | 2,460 |
| South Asian | 0.00668% | 14,978 |
| European (non-Finnish) | 0.00161% | 61,994 |
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
- BMF
- Protein
- p.Asn179=
- Coding
- c.537C>T
- MANE Select
- NM_001003940
- Type
- single nucleotide variant
- Location
- chr15:40091805 (GRCh38)
- Gene constraint
- LOEUF 0.788 · pLI 0.10 (gnomAD)
- Structure
- AlphaFold pLDDT 62.81 · 5 PDB
Similar variants
- BMF p.Ala100Thr Uncertain significance ★ ⚠ same type
- BMF p.Ala171Thr Uncertain significance ★ ⚠ same type
- BMF p.Arg103Leu Uncertain significance ★ ⚠ same type
- BMF p.Arg135Gln Uncertain significance ★ ⚠ same type
- BMF p.Arg94Gln Uncertain significance ★ ⚠ same type
- BMF p.Asp12Asn Uncertain significance ★ ⚠ same type
- BMF p.Gln16His Uncertain significance ★ ⚠ same type
- BMF p.Glu118Val 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/bmf-p-asn179 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown