DCDC2 p.Ser221Gly
c.660_661inv · VCV2140544
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
2
autosomal recessive nonsyndromic hearing loss 66
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 0.67 | GERP -0.74, phastCons 1 |
| Regional constraint | o/e 0.98 | unconstrained · MANE · 183 kb · p 0.62 · regional, not allelic |
Variant & gene context
- Gene
- DCDC2
- Protein
- p.Ser221Gly
- Coding
- c.660_661inv
- MANE Select
- NM_016356
- Type
- Inversion
- Location
- chr6:24290975 (GRCh38)
- Gene constraint
- LOEUF 1.062 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 63.93 · 1 PDB
- Residue 221
- a UniProt-annotated variant site (in nsc); a UniProt-annotated variant site (in); the doublecortin 2 domain; an α-helix
Similar variants
- DCDC2 p.Ser221Asn Uncertain significance ★ ⚠ same residue
- DCDC2 c.294-2A>G Pathogenic ★★ same condition
- DCDC2 c.349-2A>G Pathogenic ★★ same condition
- DCDC2 c.705-2A>G Pathogenic ★★ same condition
- DCDC2 p.Ala324fs Pathogenic/Likely pathogenic ★★ same condition
- DCDC2 p.Gly315fs Pathogenic/Likely pathogenic ★★ same condition
- DCDC2 p.Ile177fs Pathogenic ★★ same condition
- DCDC2 p.Leu297Ter 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/dcdc2-p-ser221gly (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown