Is ACE p.Arg862fs (c.2585_2586del) pathogenic?

ACE p.Arg862fs (c.25852586del) is classified Likely pathogenic in ACE (ClinVar, Single submitter, 1 submitter; last evaluated 2024-05-14). Associated with renal tubular dysgenesis of genetic origin.

What condition is associated with ACE p.Arg862fs (c.2585_2586del)?

ACE p.Arg862fs (c.2585_2586del) is associated with renal tubular dysgenesis of genetic origin, microvascular complications of diabetes, susceptibility to, 3, hemorrhage, intracerebral, susceptibility to (ClinVar).

ACE p.Arg862fs

c.2585_2586del · VCV3582545

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

renal tubular dysgenesis of genetic origin

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 17 of 25
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 4.8	GERP 0.58, phastCons 1

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

Variant & gene context

Gene: ACE
Protein: p.Arg862fs
Coding: c.2585_2586del
MANE Select: NM_000789
Type: Deletion
Location: chr17:63489076 (GRCh38)
Gene constraint: LOEUF 0.88 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 91.38 · 97 PDB
Residue 862: an α-helix; the peptidase m2 2 domain

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

Disease context

renal tubular dysgenesis of genetic origin — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: microvascular complications of diabetes, susceptibility to, 3 hemorrhage, intracerebral, susceptibility to

Similar variants

ACE p.Arg862His Uncertain significance ★★ ⚠ same residue
ACE p.Arg8fs Pathogenic/Likely pathogenic ★★ same condition
ACE p.Pro504fs Likely pathogenic ★★ same condition
ACE p.Lys722fs Likely pathogenic ★ same condition
ACE p.Ser1131fs Likely pathogenic ★ same condition
ACE p.Val325fs Likely pathogenic ★ same condition
ACE c.1922-236_1922-219del Uncertain significance ★ same condition
ACE p.Gly1174fs Conflicting classifications of pathogenicity ★ 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/ace-p-arg862fs (accessed [today's date]).

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