Is DSG2 p.Lys362fs (c.1084_1086delinsT) pathogenic?

DSG2 p.Lys362fs (c.10841086delinsT) is classified Likely pathogenic in DSG2 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-03-04). Absent from gnomAD.

How common is DSG2 p.Lys362fs (c.1084_1086delinsT) in the general population?

DSG2 p.Lys362fs (c.1084_1086delinsT) is absent from gnomAD (gnomAD).

DSG2 p.Lys362fs

c.1084_1086delinsT · rs2144332631 · VCV1343046

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

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 9 of 15
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.9	GERP -0.92, phastCons 1

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

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: DSG2
Protein: p.Lys362fs
Coding: c.1084_1086delinsT
MANE Select: NM_001943
dbSNP: rs2144332631
Type: Indel
Location: chr18:31531056 (GRCh38)
Gene constraint: LOEUF 0.764 · pLI <0.01 · ClinGen HI 2/3 (gnomAD)
Structure: AlphaFold pLDDT 65.27 · 12 PDB
Residue 362: a turn; the 'interacts with human adenovirus b3 fiber protein' region; the cadherin 3 domain

Full DSG2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

DSG2 p.Leu29fs Pathogenic/Likely pathogenic ★★ same type
DSG2 p.Val288Leu Uncertain significance ★★ same type
DSG2 p.Ala313_Ser314delinsGluMetLysGluValIleSerPheIleTer Pathogenic ★ same type
DSG2 p.Asp304_Ser314delinsGluIleGlyTrpGlnIleLeuHisLeuLysTer Pathogenic ★ same type
DSG2 c.1014+4_1014+5delinsGA Uncertain significance ★ same type
DSG2 c.81+16_81+17delinsTG Conflicting classifications of pathogenicity ★ same type
DSG2 c.81+5_81+10delinsAAGGCAG Uncertain significance ★ same type
DSG2 p.Arg292_Ile293delinsHisVal Uncertain significance ★ 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/dsg2-p-lys362fs (accessed [today's date]).

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