DMBT1 p.Asp328=
c.984C>T · VCV3353093
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.267%, eas)
Conditions
1
DMBT1-related disorder
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 -20 | GERP -3.7 |
| Overall | ||
| CADD | 1.565 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.267%
East Asian · 120/44,868 alleles
Filtering AF
0.229%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.214%
Overall
0.0125%
201/1,613,836 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.267% | 374 |
| Admixed American | 0.015% | 6,669 |
| South Asian | 0.0132% | 7,589 |
| Remaining individualsnot grpmax-eligible | 0.0064% | 15,618 |
| European (non-Finnish) | 0.00458% | 21,847 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,604 |
| African / African-American | 0.00133% | 75,044 |
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
- DMBT1
- Protein
- p.Asp328=
- Coding
- c.984C>T
- MANE Select
- NM_001377530
- Type
- single nucleotide variant
- Location
- chr10:122579882 (GRCh38)
- Gene constraint
- LOEUF 0.904 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 74.29 · 6 PDB
- Residue 328
- the srcr 2 domain; a disulfide bond
Disease context
DMBT1-related disorder
Similar variants
- DMBT1 c.1033+10C>T Likely benign same condition
- DMBT1 c.1459+7A>T Likely benign same condition
- DMBT1 c.6026-9G>C Benign same condition
- DMBT1 c.6548+10C>T Likely benign same condition
- DMBT1 p.Ala268Val Benign same condition
- DMBT1 p.Arg1098Gln Benign same condition
- DMBT1 p.Arg1626His Likely benign same condition
- DMBT1 p.Arg2060= Likely benign same condition
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/dmbt1-p-asp328 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown