Is INF2 p.Arg820fs (c.2458dup) pathogenic?

INF2 p.Arg820fs (c.2458dup) is classified Uncertain significance in INF2 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-12-02). No gnomAD frequency available for this variant; Associated with Inborn genetic diseases.

What condition is associated with INF2 p.Arg820fs (c.2458dup)?

INF2 p.Arg820fs (c.2458dup) is associated with Inborn genetic diseases (ClinVar).

How common is INF2 p.Arg820fs (c.2458dup) in the general population?

INF2 p.Arg820fs (c.2458dup) is no gnomAD frequency available for this variant (gnomAD).

INF2 p.Arg820fs

c.2458dup · rs2541940343 · VCV2327088

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Inborn genetic diseases

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 16 of 23
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.034	GERP -1.8, phastCons 0.29

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: INF2
Protein: p.Arg820fs
Coding: c.2458dup
MANE Select: NM_022489
dbSNP: rs2541940343
Type: Duplication
Location: chr14:104711664 (GRCh38)
Gene constraint: LOEUF 0.526 · pLI 0.33 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 67.34 · 10 PDB
Residue 820: an α-helix; the fh2 domain

Full INF2 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

INF2 p.Arg820Trp Benign/Likely benign ★★ same residue
INF2 c.2611-3dup Uncertain significance ★ same condition
INF2 p.Arg820Gln Conflicting classifications of pathogenicity ★ ⚠ same residue
INF2 c.2418+3G>A Uncertain significance ★★ same condition
INF2 p.Ala1003Thr Uncertain significance ★★ ⚠ same condition
INF2 p.Ala149Ser Uncertain significance ★★ ⚠ same condition
INF2 p.Ala7Val Uncertain significance ★★ ⚠ same condition
INF2 p.Ala95Thr 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/inf2-p-arg820fs (accessed [today's date]).

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