DCC p.Gly31fs
c.90dup · VCV4886830
Likely pathogenic
No assertion criteria
Classification
Likely pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
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 in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 1 of 29 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.21 | GERP -3.3, phastCons 0.001 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DCC
- Protein
- p.Gly31fs
- Coding
- c.90dup
- MANE Select
- NM_005215
- Type
- Duplication
- Location
- chr18:52340875 (GRCh38)
- Gene constraint
- LOEUF 0.414 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 68.60 · 9 PDB
- Residue 31
- the ig-like c2-type 1 domain
Similar variants
- DCC p.Ala713fs Pathogenic ★ same type
- DCC p.Cys740fs Likely pathogenic ★ same type
- DCC p.Ile1000fs Likely pathogenic ★ same type
- DCC c.4111+4_4111+8dup Uncertain significance ★ same type
- DCC p.Ser1406fs Uncertain significance ★ same type
- DCC p.Asn925fs Pathogenic same type
- DCC p.Val191fs Pathogenic same type
- DCC p.Pro1351fs 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/dcc-p-gly31fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown