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NM_001943.5(DSG2):c.523+1G>C

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Aug 18, 2016)
Last evaluated:
Sep 17, 2014
Accession:
VCV000188450.1
Variation ID:
188450
Description:
single nucleotide variant
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NM_001943.5(DSG2):c.523+1G>C

Allele ID
186568
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q12.1
Genomic location
18: 31521244 (GRCh38) GRCh38 UCSC
18: 29101207 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.31521244G>C
NC_000018.9:g.29101207G>C
NG_007072.3:g.28003G>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000018.10:31521243:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (C)

Allele frequency
1000 Genomes Project 0.00020
Links
ClinGen: CA022140
dbSNP: rs553299589
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Sep 17, 2014 RCV000505605.1
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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
655 1113

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 17, 2014)
no assertion criteria provided
Method: research
Arrhythmogenic right ventricular cardiomyopathy, type 10
Dilated cardiomyopathy 1BB
GERMLINE
(Autosomal dominant inheritance)
Allele origin: germline
Donald Williams Parsons Laboratory,Baylor College of Medicine
Additional submitter:
Donald Williams Parsons Laboratory,Baylor College of Medicine
Study: CSER-BASIC3
Accession: SCV000599976.1
Submitted: (Aug 18, 2016)
Evidence details
Publications
PubMed (1)
Comment:
This splice site variant is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was an incidental finding in our study, in a 4-year-old female … (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
Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors. Parsons DW JAMA oncology 2016 PMID: 26822237

Text-mined citations for rs553299589...

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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 Oct 08, 2021