DMTF1 p.Thr534fs
c.1601_1605del · VCV4896485
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 15 of 18 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 3.2 | GERP -4.1, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DMTF1
- Protein
- p.Thr534fs
- Coding
- c.1601_1605del
- MANE Select
- NM_001142327
- Type
- Deletion
- Location
- chr7:87193304 (GRCh38)
- Gene constraint
- LOEUF 0.539 · pLI 0.72 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 53.56 · 1 PDB
- Residue 534
- the 'required for transcriptional activation' region; the 'interaction with ccnd1, ccnd2 and ccnd3' region
Similar variants
- DMP1 p.Glu179fs Likely pathogenic ★ same type
- DMP1 p.Ser92fs Pathogenic ★ same type
- DMP1 p.Ile501fs Uncertain significance ★ same type
- DMP1 c.135+12del Likely benign ★ same type
- DMP1 c.55-13del 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/dmtf1-p-thr534fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown