DNM1 p.Ser264=
c.792T>A · rs1206202964 · VCV1761283
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 6.84e-05%)
Conditions
2
Inborn genetic diseases
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 3.3 | GERP 0.65, phastCons 1 |
| Overall | ||
| CADD | 13.33 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
6.84e-05%
Overall
6.84e-05%
1/1,461,888 alleles · very rare
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
- DNM1
- Protein
- p.Ser264=
- Coding
- c.792T>A
- MANE Select
- NM_004408
- dbSNP
- rs1206202964
- Type
- single nucleotide variant
- Location
- chr9:128220284 (GRCh38)
- Gene constraint
- LOEUF 0.417 · pLI 1.00 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 78.87 · 22 PDB
- Residue 264
- the dynamin-type g domain; a UniProt-annotated variant site (in dee31b); a turn
Similar variants
- DNM1 p.Ser264Tyr Likely benign ★ same residue
- DNM1 c.1335+1638G>A Pathogenic/Likely pathogenic ★★ same condition
- DNM1 p.Arg237Trp Pathogenic ★★ same condition
- DNM1 p.Arg361Gly Likely pathogenic ★★ same condition
- DNM1 p.Arg399Ter Pathogenic/Likely pathogenic ★★ same condition
- DNM1 p.Asp211Val Pathogenic/Likely pathogenic ★★ same condition
- DNM1 p.Gln148Arg Pathogenic/Likely pathogenic ★★ same condition
- DNM1 p.Gln148Lys Likely pathogenic ★★ 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/dnm1-p-ser264 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown