DCDC2 p.Tyr472fs
c.1415_1416del · VCV4541105
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | escapes | premature termination codon in the last exon (10 of 10) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.8 | GERP 0.54, phastCons 0.93 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DCDC2
- Protein
- p.Tyr472fs
- Coding
- c.1415_1416del
- MANE Select
- NM_016356
- Type
- Deletion
- Location
- chr6:24174745 (GRCh38)
- Gene constraint
- LOEUF 1.062 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 63.93 · 1 PDB
- Residue 472
- a UniProt-annotated variant site (in nsc); the 'disordered' region
Similar variants
- DCDC2 p.Gly315fs Pathogenic/Likely pathogenic ★★ same type
- DCDC2 c.923-283_1023+141del Likely pathogenic ★ same type
- DCDC2 p.Glu222fs Likely pathogenic ★ same type
- DCDC2 p.Glu386fs Likely pathogenic ★ same type
- DCDC2 p.Leu179fs Pathogenic ★ same type
- DCDC2 p.Leu97fs Likely pathogenic ★ same type
- DCDC2 p.Lys298fs Likely pathogenic ★ same type
- DCDC2 p.Val113fs Likely 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/dcdc2-p-tyr472fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown