DRC4 c.3+331C>G
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 42%, sas) — too common for a highly-penetrant pathogenic allele
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +331 | deep intronic (+331 nt into the intron) |
|---|---|---|
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -1.4 | GERP -1.8 |
| Overall | ||
| CADD | 0.701 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
42%
South Asian · 2,019/4,810 alleles
Filtering AF
40.5%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 39.8%
Overall
31.7%
48,254/152,052 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 42% | 2 |
| Amishnot grpmax-eligible | 38.5% | 3 |
| Middle Eastern | 36.7% | 3 |
| Remaining individualsnot grpmax-eligible | 34.1% | 3 |
| Admixed American | 33.2% | 3 |
| African / African-American | 32.7% | 3 |
| European (non-Finnish) | 31.9% | 3 |
| Finnishnot grpmax-eligible | 27.8% | 4 |
| Ashkenazi Jewishnot grpmax-eligible | 22.1% | 5 |
| East Asian | 19.7% | 5 |
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
- DRC4
- Coding
- c.3+331C>G
- MANE Select
- NM_001481
- dbSNP
- rs870856
- Type
- single nucleotide variant
- Location
- chr16:90023055 (GRCh38)
- Structure
- AlphaFold pLDDT 85.12 · 1 PDB
Similar variants
- DRC4 c.495+1G>T Likely pathogenic ★★ same type
- DRC4 p.Gln357Ter Pathogenic ★★ same type
- DRC4 p.Ala280Thr Uncertain significance ★★ ⚠ same type
- DRC4 p.Ala460Pro Uncertain significance ★★ ⚠ same type
- DRC4 p.Arg143Trp Uncertain significance ★★ ⚠ same type
- DRC4 p.Arg164Trp Uncertain significance ★★ ⚠ same type
- DRC4 p.Arg203Gln Uncertain significance ★★ ⚠ same type
- DRC4 p.Arg278Cys 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/drc4-c-3-plus-331c-g (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown