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NM_001943.5(DSG2):c.676_680del (p.Thr226fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 12, 2020
Accession:
VCV001075406.1
Variation ID:
1075406
Description:
5bp deletion
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NM_001943.5(DSG2):c.676_680del (p.Thr226fs)

Allele ID
1064521
Variant type
Deletion
Variant length
5 bp
Cytogenetic location
18q12.1
Genomic location
18: 31522233-31522237 (GRCh38) GRCh38 UCSC
18: 29102196-29102200 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.31522235_31522239del
NC_000018.9:g.29102198_29102202del
NM_001943.5:c.676_680del MANE Select NP_001934.2:p.Thr226fs frameshift
... more HGVS
Protein change
T226fs
Other names
-
Canonical SPDI
NC_000018.10:31522232:TTACCTT:TT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Feb 12, 2020 RCV001389001.1
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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

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Feb 12, 2020)
criteria provided, single submitter
Method: clinical testing
Arrhythmogenic right ventricular cardiomyopathy, type 10
Allele origin: germline
Invitae
Accession: SCV001590202.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Thr226Glyfs*40) in the DSG2 gene. It is expected to result in an absent or disrupted protein … (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
Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease. Haskell GT Circulation. Cardiovascular genetics 2017 PMID: 28611029
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

Record last updated May 13, 2021