DCC p.Cys740fs
c.2216_2217dup · VCV3600486
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
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 15 of 29 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 2.5, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DCC
- Protein
- p.Cys740fs
- Coding
- c.2216_2217dup
- MANE Select
- NM_005215
- Type
- Duplication
- Location
- chr18:53339763 (GRCh38)
- Gene constraint
- LOEUF 0.414 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 68.60 · 9 PDB
- Residue 740
- the fibronectin type-iii 4 domain; a UniProt-annotated variant site (in mrmv1; likely pathogenic)
Similar variants
- DCC p.Asn925fs Pathogenic same condition
- DCC p.Val191fs Pathogenic same condition
- DCC p.Arg1025Ter Pathogenic/Likely pathogenic ★★ same condition
- DCC p.Arg275Ter Pathogenic ★★ same condition
- DCC p.Arg879Ter Pathogenic/Likely pathogenic ★★ same condition
- DCC p.Gly803Arg Uncertain significance ★★ ⚠ same condition
- DCC c.2053+13A>G Benign ★★ same condition
- DCC c.2053+9T>C Benign/Likely benign ★★ 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/dcc-p-cys740fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown