DMPK p.Ala435=
c.1305G>A · rs771536499 · VCV3046615
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0508%, afr)
Conditions
1
DMPK-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 -1.5 | GERP -1.4 |
| Overall | ||
| CADD | 6.363 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0508%
African / African-American · 35/68,962 alleles
Filtering AF
0.0374%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0329%
Overall
0.00529%
81/1,532,586 alleles · ultra-rare
exomes 47/1,380,364 · genomes 34/152,222 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0508% | 1,970 |
| Remaining individualsnot grpmax-eligible | 0.00677% | 14,777 |
| Admixed American | 0.00482% | 20,735 |
| European (non-Finnish) | 0.0033% | 30,274 |
| Finnishnot grpmax-eligible | 0.00158% | 63,322 |
| South Asian | 0.00129% | 77,344 |
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
- DMPK
- Protein
- p.Ala435=
- Coding
- c.1305G>A
- MANE Select
- NM_004409
- dbSNP
- rs771536499
- Type
- single nucleotide variant
- Location
- chr19:45772680 (GRCh38)
- Gene constraint
- LOEUF 0.67 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.91 · 2 PDB
Disease context
DMPK-related disorder
Similar variants
- DMPK c.161-5C>G Likely benign same condition
- DMPK p.Ala425= Likely benign same condition
- DMPK p.Asp69Asn Benign same condition
- DMPK p.Gly326= Likely benign same condition
- DMPK p.His296= Likely benign same condition
- DMPK p.Lys89= Likely benign same condition
- DMPK p.Pro337Arg Likely benign ⚠ same condition
- DMPK p.Thr225= 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/dmpk-p-ala435 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown