Is ACADM p.Lys271= (c.813A>G) pathogenic?

ACADM p.Lys271= (c.813A>G) is classified Likely benign in ACADM (ClinVar, Single submitter, 1 submitter; last evaluated 2024-06-26). Absent from gnomAD v4.1; Associated with Inborn genetic diseases.

What condition is associated with ACADM p.Lys271= (c.813A>G)?

ACADM p.Lys271= (c.813A>G) is associated with Inborn genetic diseases (ClinVar).

How common is ACADM p.Lys271= (c.813A>G) in the general population?

ACADM p.Lys271= (c.813A>G) is absent from gnomAD v4.1 (gnomAD).

ACADM p.Lys271=

c.813A>G · VCV3464256

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

Inborn genetic diseases

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 3.9	GERP 0.66, phastCons 1
Overall
CADD	8.111	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: ACADM
Protein: p.Lys271=
Coding: c.813A>G
MANE Select: NM_000016
Type: single nucleotide variant
Location: chr1:75749523 (GRCh38)
Gene constraint: LOEUF 1.072 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 93.15 · 7 PDB
Residue 271: a modified residue (n6-acetyllysine; alternate); a modified residue (n6-succinyllysine; alternate); an α-helix

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

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

ACADM p.Lys271Asn Uncertain significance ★★ ⚠ same residue
ACADM p.Ala340Val Uncertain significance ★★ ⚠ same condition
ACADM p.Ala369Thr Uncertain significance ★★ ⚠ same condition
ACADM p.Asn28Ser Uncertain significance ★★ ⚠ same condition
ACADM p.Ile135Thr Uncertain significance ★★ ⚠ same condition
ACADM p.Ile364Thr Uncertain significance ★★ ⚠ same condition
ACADM p.Lys259Glu Uncertain significance ★★ ⚠ same condition
ACADM p.Met131Ile Uncertain significance ★★ ⚠ 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/acadm-p-lys271 (accessed [today's date]).

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