DMAC2 p.Ser207=
c.621G>A · rs143331885 · VCV3082990
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.099%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.029 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -6.1 | GERP -3.1 |
| Overall | ||
| CADD | 0.431 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.099%
Middle Eastern · 6/6,060 alleles
Filtering AF
0.0531%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0478%
Overall
0.0221%
356/1,613,878 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.099% | 1,010 |
| African / African-American | 0.068% | 1,471 |
| European (non-Finnish) | 0.0244% | 4,097 |
| Remaining individualsnot grpmax-eligible | 0.008% | 12,499 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,600 |
| Admixed American | 0.00333% | 30,001 |
| East Asian | 0.00223% | 44,868 |
| South Asian | 0.0022% | 45,542 |
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.Ser207=
- Coding
- c.621G>A
- MANE Select
- NM_018035
- dbSNP
- rs143331885
- Type
- single nucleotide variant
- Location
- chr19:41432384 (GRCh38)
- Gene constraint
- LOEUF 1.319 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.56
Similar variants
- DMAC2 p.Ser207Leu Uncertain significance ★ ⚠ same residue
- 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
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-ser207 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown