DRC3 p.Ser7=
c.21G>T · rs367593570 · VCV2647534
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.181%, mid)
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 -9.9 | GERP -2.8 |
| Overall | ||
| CADD | 0.02 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.181%
Middle Eastern · 11/6,084 alleles
Filtering AF
0.101%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0784%
Overall
0.00694%
112/1,613,868 alleles · rare
exomes 101/1,461,690 · genomes 11/152,178 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.181% | 553 |
| South Asian | 0.0154% | 6,506 |
| Remaining individualsnot grpmax-eligible | 0.00801% | 12,492 |
| European (non-Finnish) | 0.0067% | 14,935 |
| Admixed American | 0.005% | 20,001 |
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
- DRC3
- Protein
- p.Ser7=
- Coding
- c.21G>T
- MANE Select
- NM_031294
- dbSNP
- rs367593570
- Type
- single nucleotide variant
- Location
- chr17:17977619 (GRCh38)
- Gene constraint
- LOEUF 1.056 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 92.15 · 1 PDB
Similar variants
- DRC3 p.Ala201Val Uncertain significance ★ ⚠ same type
- DRC3 p.Ala221Thr Uncertain significance ★ ⚠ same type
- DRC3 p.Ala228Val Uncertain significance ★ ⚠ same type
- DRC3 p.Ala239Thr Uncertain significance ★ ⚠ same type
- DRC3 p.Ala255Thr Uncertain significance ★ same type
- DRC3 p.Arg120Gln Uncertain significance ★ ⚠ same type
- DRC3 p.Arg142Trp Uncertain significance ★ ⚠ same type
- DRC3 p.Arg191Gln 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/drc3-p-ser7 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown