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NM_001943.5(DSG2):c.1374_1388del (p.Arg458_Gly463delinsSer)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 11, 2020
Accession:
VCV001021091.1
Variation ID:
1021091
Description:
15bp deletion
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NM_001943.5(DSG2):c.1374_1388del (p.Arg458_Gly463delinsSer)

Allele ID
1013352
Variant type
Deletion
Variant length
15 bp
Cytogenetic location
18q12.1
Genomic location
18: 31535362-31535376 (GRCh38) GRCh38 UCSC
18: 29115325-29115339 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.31535363_31535377del
NC_000018.9:g.29115326_29115340del
NM_001943.5:c.1374_1388del MANE Select NP_001934.2:p.Arg458_Gly463delinsSer
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000018.10:31535361:GATATGTTCAAAATGG:G
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
Uncertain significance 1 criteria provided, single submitter Sep 11, 2020 RCV001320786.1
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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
Uncertain significance
(Sep 11, 2020)
criteria provided, single submitter
Method: clinical testing
Arrhythmogenic right ventricular cardiomyopathy, type 10
Allele origin: germline
Invitae
Accession: SCV001511584.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This variant, c.1374_1388del, results in the deletion of 6 and insertion of 1 amino acid(s) in the DSG2 protein (p.Arg458_Gly463delinsSer), but otherwise preserves the integrity … (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.

Record last updated Mar 17, 2021