DMAC2 p.Cys229=
c.687C>T · rs201804717 · VCV3082992
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0263%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.072 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Pangolin | Δ0.34 | gain · loss 0.00 · not in the SpliceAI release · independent |
| Constraint at this position | ||
| Conservation | phyloP -0.92 | GERP -3.1 |
| Overall | ||
| CADD | 1.453 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0263%
South Asian · 24/91,092 alleles
Filtering AF
0.0181%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0154%
Overall
0.00266%
43/1,614,046 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0263% | 3,795 |
| East Asian | 0.0245% | 4,081 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,243 |
| African / African-American | 0.00267% | 37,463 |
| Admixed American | 0.00167% | 59,998 |
| European (non-Finnish) | 0.000254% | 393,348 |
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
- DMAC2
- Protein
- p.Cys229=
- Coding
- c.687C>T
- MANE Select
- NM_018035
- dbSNP
- rs201804717
- Type
- single nucleotide variant
- Location
- chr19:41432318 (GRCh38)
- Gene constraint
- LOEUF 1.319 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.56
Similar variants
- DMAC2 p.His23Arg Likely benign ★★ same type
- DMAC2 p.Ala193Thr Uncertain significance ★ ⚠ same type
- DMAC2 p.Ala237Thr Uncertain significance ★ ⚠ same type
- DMAC2 p.Ala27Val Uncertain significance ★ ⚠ same type
- DMAC2 p.Ala86Thr Uncertain significance ★ ⚠ same type
- DMAC2 p.Arg107Ser Uncertain significance ★ ⚠ same type
- DMAC2 p.Arg146Gly Uncertain significance ★ ⚠ same type
- DMAC2 p.Arg146His 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/dmac2-p-cys229 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown