DUOX2 p.Phe776fs
c.2327_2328del · VCV3577191
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
thyroid dyshormonogenesis 6
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 18 of 34 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.4 | GERP -2.2, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DUOX2
- Protein
- p.Phe776fs
- Coding
- c.2327_2328del
- MANE Select
- NM_001363711
- Type
- Deletion
- Location
- chr15:45105649 (GRCh38)
- Gene constraint
- LOEUF 1.165 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.37
Disease context
thyroid dyshormonogenesis 6 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Genetic transient congenital hypothyroidism (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Infancy, Neonatal
Similar variants
- DUOX2 c.3516_3531del Pathogenic ★★ same condition
- DUOX2 p.Ala1004fs Likely pathogenic ★★ same condition
- DUOX2 p.Gln202fs Pathogenic/Likely pathogenic ★★ same condition
- DUOX2 p.Gln466fs Pathogenic/Likely pathogenic ★★ same condition
- DUOX2 p.Glu160fs Pathogenic ★★ same condition
- DUOX2 p.Gly1386fs Pathogenic/Likely pathogenic ★★ same condition
- DUOX2 p.Gly624fs Pathogenic/Likely pathogenic ★★ same condition
- DUOX2 p.His1223fs Pathogenic/Likely pathogenic ★★ 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/duox2-p-phe776fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown