Is ETFB p.Gln70fs (c.208del) pathogenic?

ETFB p.Gln70fs (c.208del) is classified Likely pathogenic in ETFB (ClinVar, Single submitter, 1 submitter; last evaluated 2023-05-23). Absent from gnomAD; Associated with multiple acyl-CoA dehydrogenase deficiency.

What condition is associated with ETFB p.Gln70fs (c.208del)?

ETFB p.Gln70fs (c.208del) is associated with multiple acyl-CoA dehydrogenase deficiency (ClinVar).

How common is ETFB p.Gln70fs (c.208del) in the general population?

ETFB p.Gln70fs (c.208del) is absent from gnomAD (gnomAD).

How is Multiple acyl-CoA dehydrogenase deficiency inherited?

Typically Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

ETFB p.Gln70fs

c.208del · rs2514155370 · VCV2675095

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

multiple acyl-CoA dehydrogenase deficiency

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 2 of 6
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 4.9	GERP 0.53, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: ETFB
Protein: p.Gln70fs
Coding: c.208del
MANE Select: NM_001985
dbSNP: rs2514155370
Type: Deletion
Location: chr19:51354158 (GRCh38)
Gene constraint: LOEUF 1.1 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 96.19 · 4 PDB

Full ETFB gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

multiple acyl-CoA dehydrogenase deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Multiple acyl-CoA dehydrogenase deficiency (Orphanet):

Inheritance: Autosomal recessive
Onset: All ages
Prevalence: 1-9 / 1 000 000 (United States)

Similar variants

ETFB p.Arg21fs Pathogenic/Likely pathogenic ★★ same condition
ETFB p.Pro211fs Likely pathogenic ★★ same condition
ETFB p.Glu115del Uncertain significance ★★ same condition
ETFB c.341_375+154del Likely pathogenic ★ same condition
ETFB p.Asp32fs Likely pathogenic ★ same condition
ETFB p.Glu95fs Pathogenic ★ same condition
ETFB p.Gly123fs Pathogenic ★ same condition
ETFB p.Gly28fs 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-gln70fs (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown