FMN2 p.Ala940=
c.2820G>A · VCV4948517
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0494%, amr)
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 -1.3 | GERP -0.8 |
| Overall | ||
| CADD | 7.396 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0494%
Admixed American · 20/40,524 alleles
Filtering AF
0.0327%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0273%
Overall
0.0272%
301/1,107,032 alleles · ultra-rare
exomes 278/1,028,638 · genomes 23/78,394 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0494% | 2,026 |
| Remaining individualsnot grpmax-eligible | 0.0426% | 2,350 |
| East Asian | 0.0332% | 3,008 |
| European (non-Finnish) | 0.0278% | 3,596 |
| Finnishnot grpmax-eligible | 0.019% | 5,253 |
| South Asian | 0.0124% | 8,078 |
| African / African-American | 0.00862% | 11,603 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00731% | 13,678 |
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
- FMN2
- Protein
- p.Ala940=
- Coding
- c.2820G>A
- MANE Select
- NM_020066
- Type
- single nucleotide variant
- Location
- chr1:240207632 (GRCh38)
- Gene constraint
- LOEUF 0.51 · pLI 0.51 (gnomAD)
- Structure
- AlphaFold pLDDT 51.48 · 2 PDB
- Residue 940
- the fh1 domain; the 'disordered' region
Similar variants
- FMN2 p.Ala940Val Likely benign ★ same residue
- FMN2 p.Ile183Phe Likely pathogenic ★★ ⚠ same type
- FMN2 p.Ala1691Val Uncertain significance ★★ ⚠ same type
- FMN2 p.Ala367Val Uncertain significance ★★ ⚠ same type
- FMN2 p.Ala508Val Uncertain significance ★★ ⚠ same type
- FMN2 p.Asp352Tyr Uncertain significance ★★ ⚠ same type
- FMN2 p.Gln192Leu Uncertain significance ★★ ⚠ same type
- FMN2 p.Gln210Arg 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/fmn2-p-ala940 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown