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NM_001943.5(DSG2):c.464_465insT (p.Glu156fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 24, 2021)
Last evaluated:
Mar 8, 2019
Accession:
VCV000199822.4
Variation ID:
199822
Description:
1bp insertion
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NM_001943.5(DSG2):c.464_465insT (p.Glu156fs)

Allele ID
197968
Variant type
Insertion
Variant length
1 bp
Cytogenetic location
18q12.1
Genomic location
18: 31521184-31521185 (GRCh38) GRCh38 UCSC
18: 29101147-29101148 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.31521184_31521185insT
NC_000018.9:g.29101147_29101148insT
NG_007072.3:g.27943_27944insT
... more HGVS
Protein change
E156fs
Other names
-
Canonical SPDI
NC_000018.10:31521184::T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA022113
dbSNP: rs794728091
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 8, 2019 RCV000181238.2
Pathogenic 1 criteria provided, single submitter Oct 5, 2018 RCV000799959.1
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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
643 1101

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 08, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000233517.4
Submitted: (Sep 24, 2021)
Evidence details
Comment:
Reported in at least one individual in association with ARVC in published literature (Bhonsale et al., 2015) and other individuals referred for ARVC genetic testing … (more)
Pathogenic
(Oct 05, 2018)
criteria provided, single submitter
Method: clinical testing
Arrhythmogenic right ventricular cardiomyopathy, type 10
Allele origin: germline
Invitae
Accession: SCV000939651.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change creates a premature translational stop signal (p.Glu156Argfs*14) 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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs794728091...

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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 Sep 26, 2021