FMN2 p.Pro947=
c.2841T>A · rs1340523358 · VCV3250663
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.017%, afr)
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 -3.4 | GERP -2.1 |
| Overall | ||
| CADD | 1.324 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.017%
African / African-American · 8/47,096 alleles
Filtering AF
0.00838%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00615%
Overall
0.00251%
35/1,393,724 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.017% | 5,887 |
| Finnishnot grpmax-eligible | 0.00573% | 17,445 |
| Admixed American | 0.0021% | 47,622 |
| European (non-Finnish) | 0.0021% | 47,636 |
| Remaining individualsnot grpmax-eligible | 0.00185% | 54,062 |
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.Pro947=
- Coding
- c.2841T>A
- MANE Select
- NM_020066
- dbSNP
- rs1340523358
- Type
- single nucleotide variant
- Location
- chr1:240207653 (GRCh38)
- Gene constraint
- LOEUF 0.51 · pLI 0.51 (gnomAD)
- Structure
- AlphaFold pLDDT 51.48 · 2 PDB
- Residue 947
- the fh1 domain; the 'disordered' region
Similar variants
- FMN2 p.Pro947Leu Benign/Likely benign ★★ same residue
- FMN2 p.Pro947Arg Likely benign ★ ⚠ same residue
- FMN2 p.Pro947fs Likely pathogenic ★ same residue
- FMN2 p.Pro947_Pro958delinsLeu Uncertain significance ★ 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
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-pro947 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown