Is ELANE p.Arg182fs (c.544del) pathogenic?

ELANE p.Arg182fs (c.544del) is classified Pathogenic in ELANE (ClinVar, Single submitter, 1 submitter; last evaluated 2021-11-01). Absent from gnomAD.

How common is ELANE p.Arg182fs (c.544del) in the general population?

ELANE p.Arg182fs (c.544del) is absent from gnomAD (gnomAD).

ELANE p.Arg182fs

c.544del · rs2145148879 · VCV1335314

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

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.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 4 of 5
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 11	GERP 2.1, 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: ELANE
Protein: p.Arg182fs
Coding: c.544del
MANE Select: NM_001972
dbSNP: rs2145148879
Type: Deletion
Location: chr19:855740 (GRCh38)
Gene constraint: LOEUF 1.245 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 88.42 · 38 PDB
Residue 182: a disulfide bond; the peptidase s1 domain

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

Similar variants

ELANE p.Arg182Cys Uncertain significance ★ ⚠ same residue
ELANE p.Arg182Ser Uncertain significance ★ ⚠ same residue
ELANE p.Arg182= Likely benign ★ same residue
ELANE p.Pro111_Val112insTer Uncertain significance ★★ same type
ELANE c.597+5del Pathogenic ★ same type
ELANE p.Ala195fs Likely pathogenic ★ same type
ELANE p.Ala236fs Likely pathogenic ★ same type
ELANE p.Asn113_Ile120del Pathogenic ★ 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/elane-p-arg182fs (accessed [today's date]).

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