ETFB p.Arg164=
c.492G>A · rs1011643509 · VCV2919020
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
multiple acyl-CoA dehydrogenase deficiency
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 -0.36 | GERP 0.19, phastCons 0.082 |
| Overall | ||
| CADD | 8.519 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- ETFB
- Protein
- p.Arg164=
- Coding
- c.492G>A
- MANE Select
- NM_001985
- dbSNP
- rs1011643509
- Type
- single nucleotide variant
- Location
- chr19:51347005 (GRCh38)
- Gene constraint
- LOEUF 1.1 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 96.19 · 4 PDB
- Residue 164
- a UniProt-annotated variant site (in ga2b; reduced electron transfer activity); a β-strand
Disease context
multiple acyl-CoA dehydrogenase deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Multiple acyl-CoA dehydrogenase deficiency (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- All ages
- Prevalence
- 1-9 / 1 000 000 (United States)
Similar variants
- ETFB p.Arg164Gln Pathogenic/Likely pathogenic ★★ ⚠ same residue
- ETFB p.Arg164Leu Likely pathogenic ★ same residue
- ETFB p.Arg164Trp Conflicting classifications of pathogenicity ★ ⚠ same residue
- ETFB c.375+1G>A Likely pathogenic ★★ same condition
- ETFB c.375+1G>T Likely pathogenic ★★ same condition
- ETFB p.Arg21Ter Pathogenic/Likely pathogenic ★★ same condition
- ETFB p.Arg85Ter Pathogenic/Likely pathogenic ★★ same condition
- ETFB p.Cys42Arg Pathogenic/Likely pathogenic ★★ same condition
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/etfb-p-arg164 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown