DMBT1 p.Ser983=
c.2949G>A · rs764331560 · VCV2640934
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00223%, eas)
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 -11 | GERP -1.4 |
| Overall | ||
| CADD | 2.526 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00223%
East Asian · 1/44,870 alleles
Filtering AF
0.000542%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000428%
Overall
0.000889%
13/1,461,670 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.00223% | 44,870 |
| European (non-Finnish) | 0.00102% | 98,323 |
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.Ser983=
- Coding
- c.2949G>A
- MANE Select
- NM_001377530
- dbSNP
- rs764331560
- Type
- single nucleotide variant
- Location
- chr10:122598005 (GRCh38)
- Gene constraint
- LOEUF 0.904 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 74.29 · 6 PDB
Similar variants
- DMBT1 p.Ser983Leu Uncertain significance ★ ⚠ same residue
- DMBT1 p.Asp696Val Uncertain significance ★★ ⚠ same type
- DMBT1 p.His805Asn Uncertain significance ★★ ⚠ same type
- DMBT1 p.Arg670Cys Benign ★★ ⚠ same type
- DMBT1 p.Asp1796Glu Benign ★★ ⚠ same type
- DMBT1 p.Asp635Asn Benign ★★ ⚠ same type
- DMBT1 p.Asp668Asn Benign ★★ ⚠ same type
- DMBT1 p.Asp696= Likely benign ★★ 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/dmbt1-p-ser983 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown