Is FOXI3 p.Pro82fs (c.222_244dup) pathogenic?

FOXI3 p.Pro82fs (c.222244dup) is classified Uncertain significance in FOXI3 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-09-17). No gnomAD frequency available for this variant.

How common is FOXI3 p.Pro82fs (c.222_244dup) in the general population?

FOXI3 p.Pro82fs (c.222_244dup) is no gnomAD frequency available for this variant (gnomAD).

FOXI3 p.Pro82fs

c.222_244dup · rs2528917398 · VCV2031051

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

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 1 of 2
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 4.3	GERP -0.65, 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: FOXI3
Protein: p.Pro82fs
Coding: c.222_244dup
MANE Select: NM_001135649
dbSNP: rs2528917398
Type: Duplication
Location: chr2:88452291 (GRCh38)
Gene constraint: LOEUF 0.73 · pLI 0.65 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 59.00

Full FOXI3 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

FOXI3 p.Pro82= Likely benign ★ same residue
FOXI3 p.Thr297dup Benign ★★ same type
FOXI3 p.Ala122_Ala124dup Uncertain significance ★ same type
FOXI3 p.Ala124_Gly125insAlaProAlaSerProAlaAlaProAla Uncertain significance ★ same type
FOXI3 p.Ala124_Gly125insSerProAlaAlaProAla Uncertain significance ★ same type
FOXI3 p.Ala26fs Uncertain significance ★ same type
FOXI3 p.Ala32fs Conflicting classifications of pathogenicity ★ same type
FOXI3 p.Ala74_Tyr75insAlaAlaAlaAlaAla 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/foxi3-p-pro82fs (accessed [today's date]).

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