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NM_001943.5(DSG2):c.495dup (p.Gly166fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Nov 19, 2021)
Last evaluated:
Apr 28, 2021
Accession:
VCV000280230.7
Variation ID:
280230
Description:
1bp duplication
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NM_001943.5(DSG2):c.495dup (p.Gly166fs)

Allele ID
264903
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
18q12.1
Genomic location
18: 31521213-31521214 (GRCh38) GRCh38 UCSC
18: 29101176-29101177 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.31521215dup
NC_000018.9:g.29101178dup
NG_007072.3:g.27974dup
... more HGVS
Protein change
G166fs
Other names
-
Canonical SPDI
NC_000018.10:31521213:TT:TTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA8928333
dbSNP: rs781532110
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter Apr 28, 2021 RCV000290082.5
Pathogenic 1 criteria provided, single submitter Oct 20, 2020 RCV000813935.3
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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

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Apr 28, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000330130.5
Submitted: (Sep 25, 2021)
Evidence details
Comment:
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not … (more)
Pathogenic
(Oct 20, 2020)
criteria provided, single submitter
Method: clinical testing
Arrhythmogenic right ventricular cardiomyopathy, type 10
Allele origin: germline
Invitae
Accession: SCV000954319.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Gly166Trpfs*4) in the DSG2 gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Jul 22, 2020)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
PerkinElmer Genomics
Accession: SCV002021789.1
Submitted: (Nov 19, 2021)
Evidence details

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
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Walsh R Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 27532257
Mechanistic basis of desmosome-targeted diseases. Al-Jassar C Journal of molecular biology 2013 PMID: 23911551
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

Text-mined citations for rs781532110...

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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 28, 2021