DGCR2 p.Ser226=
c.678T>G · rs148321597 · VCV733935
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.759%, 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 -1.1 | GERP -2.1 |
| Overall | ||
| CADD | 7.799 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.759%
African / African-American · 569/75,004 alleles
Filtering AF
0.707%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.687%
Overall
0.0394%
634/1,608,332 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.759% | 132 |
| Admixed American | 0.0525% | 1,906 |
| Remaining individualsnot grpmax-eligible | 0.0514% | 1,947 |
| Middle Eastern | 0.0165% | 6,054 |
| European (non-Finnish) | 8.49e-05% | 1,177,476 |
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
- DGCR2
- Protein
- p.Ser226=
- Coding
- c.678T>G
- MANE Select
- NM_005137
- dbSNP
- rs148321597
- Type
- single nucleotide variant
- Location
- chr22:19057110 (GRCh38)
- Gene constraint
- LOEUF 0.686 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 63.74
- Residue 226
- a disulfide bond; the c-type lectin domain
Similar variants
- DGCR2 p.Arg74His Uncertain significance ★★ ⚠ same type
- DGCR2 p.Val102Met Uncertain significance ★★ ⚠ same type
- DGCR2 p.Ala141= Benign ★★ same type
- DGCR2 p.Leu11= Benign/Likely benign ★★ same type
- DGCR2 p.Pro439= Benign/Likely benign ★★ same type
- DGCR2 p.Ala142Glu Uncertain significance ★ ⚠ same type
- DGCR2 p.Ala153Thr Uncertain significance ★ ⚠ same type
- DGCR2 p.Ala469Gly 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/dgcr2-p-ser226 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown