Is ACAD9 p.Pro492Arg (c.1475_1476delinsGT) pathogenic?

ACAD9 p.Pro492Arg (c.14751476delinsGT) is classified Uncertain significance in ACAD9 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-08-09). Absent from gnomAD.

How common is ACAD9 p.Pro492Arg (c.1475_1476delinsGT) in the general population?

ACAD9 p.Pro492Arg (c.1475_1476delinsGT) is absent from gnomAD (gnomAD).

ACAD9 p.Pro492Arg

c.1475_1476delinsGT · rs2529279353 · VCV1987752

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.76	GERP 0.49, phastCons 0.008
Regional constraint	o/e 0.97	unconstrained · MANE · 33 kb · p 0.36 · regional, not allelic

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: ACAD9
Protein: p.Pro492Arg
Coding: c.1475_1476delinsGT
MANE Select: NM_014049
dbSNP: rs2529279353
Type: Indel
Location: chr3:128909089 (GRCh38)
Gene constraint: LOEUF 0.884 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 92.09 · 2 PDB
Residue 492: an α-helix

Full ACAD9 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ACAD9 p.Pro492= Benign ★★ same residue
ACAD9 p.Pro492Ser Uncertain significance ★ ⚠ same residue
ACAD9 c.1671_1693-79delinsCTGAT Likely pathogenic ★ same type
ACAD9 p.Asp240fs Likely pathogenic ★ same type
ACAD9 p.Gly252fs Likely pathogenic ★ same type
ACAD9 p.Lys228_Glu230delinsGlnTer Likely pathogenic ★ same type
ACAD9 p.Lys459_Ser461delinsThrCys Likely pathogenic ★ same type
ACAD9 c.346+14_346+15delinsTA 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/acad9-p-pro492arg (accessed [today's date]).

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