DCC p.Arg773Ser
c.2316_2317delinsAA · rs2057635830 · VCV1029949
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
1
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 -1.7 | GERP -5.1 |
| Regional constraint | o/e 0.98 | unconstrained · MANE · 1,190 kb · p 0.4 · regional, not allelic |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- DCC
- Protein
- p.Arg773Ser
- Coding
- c.2316_2317delinsAA
- MANE Select
- NM_005215
- dbSNP
- rs2057635830
- Type
- Indel
- Location
- chr18:53339864 (GRCh38)
- Gene constraint
- LOEUF 0.414 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 68.60 · 9 PDB
- Residue 773
- a β-strand; the fibronectin type-iii 4 domain; a UniProt-annotated variant site (in mrmv1; likely pathogenic)
Similar variants
- DCC p.Arg773His Likely benign same residue
- 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
- DCC c.3130+10A>G 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-arg773ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown