Is DST p.Glu5012Ter (c.15033dup) pathogenic?

DST p.Glu5012Ter (c.15033dup) is classified Pathogenic in DST (ClinVar, Single submitter, 1 submitter; last evaluated 2025-01-08). Associated with epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency.

DST p.Glu5012Ter

Q: What condition is associated with DST p.Glu5012Ter (c.15033dup)?

DST p.Glu5012Ter (c.15033dup) is associated with epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, hereditary sensory and autonomic neuropathy type 6 (ClinVar).

Q: How is Epidermolysis bullosa simplex due to BP230 deficiency inherited?

Typically Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

c.15033dup · VCV3758038

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

nonsense (stop-gain)

predicted LoF

gnomAD v4.1

Rare

Conditions

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	nonsense (stop-gain)	predicted loss-of-function in a LoF-intolerant gene
NMD	predicted	premature termination codon in exon 60 of 104
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 4.9	GERP 1.9, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Variant & gene context

Gene: DST
Protein: p.Glu5012Ter
Coding: c.15033dup
MANE Select: NM_001374736
Type: Duplication
Location: chr6:56555447 (GRCh38)
Gene constraint: LOEUF 0.297 · pLI 1.00 (gnomAD)

Full DST gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: hereditary sensory and autonomic neuropathy type 6

For Epidermolysis bullosa simplex due to BP230 deficiency (Orphanet):

Inheritance: Autosomal recessive
Onset: Adult

Similar variants

DST p.Thr1727fs Pathogenic ★★ same condition
DST p.Tyr1196fs Pathogenic/Likely pathogenic ★★ same condition
DST p.Phe1022dup Uncertain significance ★★ same condition
DST p.Ala1361fs Pathogenic ★ same condition
DST p.Arg6274fs Pathogenic ★ same condition
DST p.Asn5081fs Pathogenic ★ same condition
DST p.Gln1818fs Pathogenic ★ same condition
DST p.Glu1516fs 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/dst-p-glu5012ter (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown