Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001943.5(DSG2):c.216+3A>C

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 24, 2021)
Last evaluated:
Oct 21, 2020
Accession:
VCV000199797.6
Variation ID:
199797
Description:
single nucleotide variant
Help

NM_001943.5(DSG2):c.216+3A>C

Allele ID
197966
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q12.1
Genomic location
18: 31519940 (GRCh38) GRCh38 UCSC
18: 29099903 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_397:g.26699A>C
NC_000018.10:g.31519940A>C
NC_000018.9:g.29099903A>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000018.10:31519939:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00010
Links
ClinGen: CA021695
dbSNP: rs774208829
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Apr 11, 2019 RCV000181201.4
Uncertain significance 1 criteria provided, single submitter Oct 21, 2020 RCV001044064.2
Uncertain significance 1 criteria provided, single submitter Aug 21, 2019 RCV001189658.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 11, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000233479.10
Submitted: (Sep 24, 2021)
Evidence details
Comment:
In silico analysis, which includes splice predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our … (more)
Uncertain significance
(Aug 21, 2019)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
Color Health, Inc
Accession: SCV001356989.1
Submitted: (May 19, 2020)
Comment:
This variant causes an A>C nucleotide substitution at the +3 position of intron 3 of the DSG2 gene. Splice site prediction tools predict that this … (more)
Evidence details
Uncertain significance
(Oct 21, 2020)
criteria provided, single submitter
Method: clinical testing
Arrhythmogenic right ventricular cardiomyopathy, type 10
Allele origin: germline
Invitae
Accession: SCV001207838.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change falls in intron 3 of the DSG2 gene. It does not directly change the encoded amino acid sequence of the DSG2 protein, … (more)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Buratti E Nucleic acids research 2007 PMID: 17576681
Statistical features of human exons and their flanking regions. Zhang MQ Human molecular genetics 1998 PMID: 9536098

Text-mined citations for rs774208829...

Help
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