Is DUOX2 p.Pro982Val (c.2944_2945delinsGT) pathogenic?

DUOX2 p.Pro982Val (c.29442945delinsGT) is classified Uncertain significance in DUOX2 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-10-13). No gnomAD frequency available for this variant.

How common is DUOX2 p.Pro982Val (c.2944_2945delinsGT) in the general population?

DUOX2 p.Pro982Val (c.2944_2945delinsGT) is no gnomAD frequency available for this variant (gnomAD).

DUOX2 p.Pro982Val

c.2944_2945delinsGT · rs2504753471 · VCV1961870

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

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.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 1.3	GERP -3.4
Regional constraint	o/e 1.01	unconstrained · MANE · 17 kb · p 0.63 · regional, not allelic

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: DUOX2
Protein: p.Pro982Val
Coding: c.2944_2945delinsGT
MANE Select: NM_001363711
dbSNP: rs2504753471
Type: Indel
Location: chr15:45100815 (GRCh38)
Gene constraint: LOEUF 1.165 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 84.37
Residue 982: the 'interaction with txndc11' region; the 'disordered' region

Full DUOX2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

DUOX2 p.Pro982Ala Benign/Likely benign ★★ same residue
DUOX2 p.Pro982Leu Conflicting classifications of pathogenicity ★ ⚠ same residue
DUOX2 p.Pro982Ser Uncertain significance ★ ⚠ same residue
DUOX2 p.Pro982Thr Uncertain significance ★ ⚠ same residue
DUOX2 p.Leu489fs Likely pathogenic ★★ same type
DUOX2 p.Gln216fs Likely pathogenic ★ same type
DUOX2 p.Gly488Arg Pathogenic ★ same type
DUOX2 p.Leu1028_Gln1029delinsAlaSerTer 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/duox2-p-pro982val (accessed [today's date]).

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