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NM_001943.5(DSG2):c.2923del (p.Leu974_Val975insTer)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 29, 2019)
Last evaluated:
Jun 12, 2018
Accession:
VCV000199801.2
Variation ID:
199801
Description:
1bp deletion
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NM_001943.5(DSG2):c.2923del (p.Leu974_Val975insTer)

Allele ID
198006
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
18q12.1
Genomic location
18: 31546308 (GRCh38) GRCh38 UCSC
18: 29126271 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.31546309del
NC_000018.9:g.29126272del
NM_001943.5:c.2923del MANE Select NP_001934.2:p.Leu974_Val975insTer nonsense
... more HGVS
Protein change
-
Other names
p.V975*:GTA>TAG
Canonical SPDI
NC_000018.10:31546307:GG:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA021938
dbSNP: rs794728084
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Feb 2, 2018 RCV000181209.2
Pathogenic 1 criteria provided, single submitter Jun 12, 2018 RCV000687936.1
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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
638 1094
DSG2-AS1 - - - GRCh38 - 435

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 12, 2018)
criteria provided, single submitter
Method: clinical testing
Arrhythmogenic right ventricular cardiomyopathy, type 10
Allele origin: germline
Invitae
Accession: SCV000815529.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change results in a premature translational stop signal in the DSG2 gene (p.Val975*). While this is not anticipated to result in nonsense mediated … (more)
Likely pathogenic
(Feb 02, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000233487.8
Submitted: (Jan 29, 2019)
Evidence details
Comment:
Although the c.2923delG likely pathogenic variant in the DSG2 gene has not been reported to our knowledge, this variant has been identified in one other … (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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
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 rs794728084...

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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 Feb 27, 2021