DST p.Gln1852fs
c.5556_5557del · VCV3895813
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene; NMD-escape possible for C-terminal truncations |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 2.5, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DST
- Protein
- p.Gln1852fs
- Coding
- c.5556_5557del
- MANE Select
- NM_001374736 · reported on NM_001723
- Type
- Deletion
- Location
- chr6:56618477 (GRCh38)
- Gene constraint
- LOEUF 0.297 · pLI 1.00 (gnomAD)
Disease context
epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Epidermolysis bullosa simplex due to BP230 deficiency (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Adult
Similar variants
- DST p.Gln1852Arg Uncertain significance ★ same residue
- DST p.Ala1128fs Pathogenic ★★ same condition
- DST p.Ala7253fs Pathogenic ★★ same condition
- DST p.Arg4211_Lys4215del Uncertain significance ★★ same condition
- DST p.Ser2388fs Uncertain significance ★★ same condition
- DST c.14441-7del Benign/Likely benign ★★ same condition
- DST c.21676-15_21676-14del Benign/Likely benign ★★ same condition
- DST c.2697+16del Benign/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/dst-p-gln1852fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown