DCC p.Gly381=
c.1143A>T · rs111544101 · VCV785591
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.13%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.8 | GERP -1.9, phastCons 1 |
| Overall | ||
| CADD | 12.61 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.13%
African / African-American · 2,346/74,870 alleles
Filtering AF
3.03%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.98%
Overall
0.176%
2,837/1,612,994 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 3.13% | 32 |
| Middle Eastern | 0.297% | 336 |
| Admixed American | 0.264% | 379 |
| Remaining individualsnot grpmax-eligible | 0.263% | 381 |
| European (non-Finnish) | 0.012% | 8,305 |
| South Asian | 0.00878% | 11,384 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,562 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- DCC
- Protein
- p.Gly381=
- Coding
- c.1143A>T
- MANE Select
- NM_005215
- dbSNP
- rs111544101
- Type
- single nucleotide variant
- Location
- chr18:53066048 (GRCh38)
- Gene constraint
- LOEUF 0.414 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 68.60 · 9 PDB
- Residue 381
- a disulfide bond; a UniProt-annotated variant site (in mrmv1; likely pathogenic); the ig-like c2-type 4 domain
Similar variants
- DCC p.Arg1021Ter Pathogenic ★★ same type
- DCC p.Arg1025Ter Pathogenic/Likely pathogenic ★★ same type
- DCC p.Arg275Ter Pathogenic ★★ same type
- DCC p.Arg879Ter Pathogenic/Likely pathogenic ★★ same type
- DCC c.3620-2A>G Uncertain significance ★★ same type
- DCC p.Arg597Gln Uncertain significance ★★ ⚠ same type
- DCC p.Gly1294Arg Uncertain significance ★★ ⚠ same type
- DCC p.Gly55Arg 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-gly381 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown