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NM_001943.5(DSG2):c.2620del (p.Thr874fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 12, 2019
Accession:
VCV000835215.2
Variation ID:
835215
Description:
1bp deletion
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NM_001943.5(DSG2):c.2620del (p.Thr874fs)

Allele ID
846796
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
18q12.1
Genomic location
18: 31546004 (GRCh38) GRCh38 UCSC
18: 29125967 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.31546006del
NC_000018.9:g.29125969del
NG_007072.3:g.52765del
... more HGVS
Protein change
T874fs
Other names
-
Canonical SPDI
NC_000018.10:31546003:AAA:AA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs755243947
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Mar 12, 2019 RCV001036046.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DSG2 Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
655 1113
DSG2-AS1 - - - GRCh38 - 437

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 12, 2019)
criteria provided, single submitter
Method: clinical testing
Arrhythmogenic right ventricular cardiomyopathy, type 10
Allele origin: germline
Invitae
Accession: SCV001199392.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change results in a premature translational stop signal in the DSG2 gene (p.Thr874Leufs*29). While this is not anticipated to result in nonsense mediated … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy. Rasmussen TB Human mutation 2013 PMID: 23381804
Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy. Lahtinen AM Heart rhythm 2011 PMID: 21397041
Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy. Christensen AH Journal of medical genetics 2010 PMID: 20864495

Text-mined citations for rs755243947...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021