ACAD11

Chr 3

acyl-CoA dehydrogenase family member 11

Also known as: ACAD-11

NCBI Gene: 84129 ENSG00000240303 UniProt: Q709F0 OMIM: 614288

This gene encodes an acyl-CoA dehydrogenase enzyme with a preference for carbon chain lengths between 20 and 26. Naturally occurring read-through transcription occurs between the upstream gene NPHP3 (nephronophthisis 3 (adolescent)) and this gene. [provided by RefSeq, Aug 2015]

OMIM Research

OMIM ResearchGenerating clinical summary…

DNmechanismLOEUF 0.88

Clinical Summary— ACAD11

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

1 unique Pathogenic / Likely Pathogenic· 101 VUS of 120 total submissions

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.88LOEUF

pLI 0.000

Z-score 2.20

OE 0.65 (0.49–0.88)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.51Z-score

OE missense 0.93 (0.86–1.01)

396 obs / 425.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.65 (0.49–0.88)

0≤0.351.4

Missense OE?0.93 (0.86–1.01)

0≤0.61.4

Synonymous OE?1.13

0≤1.21.6

LoF obs/exp: 30 / 46.1Missense obs/exp: 396 / 425.5Syn Z: -1.24

This gene — mechanism propensity

0.76top 25%

GOF

0.6248th %ile

LOF

0.2777th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

120 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic1

VUS101

Likely Benign10

Benign1

Conflicting1

Pathogenic

101

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	1	0	1
Likely Pathogenic	0	0	0	0	0
VUS	0	100	0	1	101
Likely Benign	0	6	0	4	10
Benign	0	0	1	0	1
Conflicting	—				1
Total	0	106	2	5	114

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

12 pathogenic / likely-pathogenic (of 21) ClinVar copy-number / structural variants overlap ACAD11 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →