Is DST p.Ser7080Lys (c.21239_21240delinsAA) pathogenic?

DST p.Ser7080Lys (c.2123921240delinsAA) is classified Uncertain significance in DST (ClinVar, Single submitter, 1 submitter; last evaluated 2024-09-21). Associated with epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency.

DST p.Ser7080Lys

Q: What condition is associated with DST p.Ser7080Lys (c.21239_21240delinsAA)?

DST p.Ser7080Lys (c.21239_21240delinsAA) 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.21239_21240delinsAA · VCV3762420

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

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.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 6.7	GERP 2.4, phastCons 1
Regional constraint	o/e 0.83	unconstrained · MANE · 46 kb · p 3.7e-11 · regional, not allelic

Variant & gene context

Gene: DST
Protein: p.Ser7080Lys
Coding: c.21239_21240delinsAA
MANE Select: NM_001374736
Type: Indel
Location: chr6:56482845 (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.Ala4419Leu Uncertain significance ★★ same condition
DST p.Ala5119Leu Uncertain significance ★ same condition
DST p.Gln1393_Leu1394delinsHisPhe Uncertain significance ★ same condition
DST p.Lys2630fs Conflicting classifications of pathogenicity ★ ⚠ same condition
DST p.Ser7810Pro Uncertain significance ★ same condition
DST c.12903+10_12903+11delinsTT Likely benign ★ same condition
DST c.22959+1G>A Likely pathogenic ★★ same condition
DST p.Ala1128fs 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-ser7080lys (accessed [today's date]).

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