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NM_001943.5(DSG2):c.2880C>G (p.Ser960Arg)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 27, 2020
Accession:
VCV000199793.3
Variation ID:
199793
Description:
single nucleotide variant
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NM_001943.5(DSG2):c.2880C>G (p.Ser960Arg)

Allele ID
198004
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q12.1
Genomic location
18: 31546266 (GRCh38) GRCh38 UCSC
18: 29126229 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.31546266C>G
NC_000018.9:g.29126229C>G
NG_007072.3:g.53025C>G
... more HGVS
Protein change
S960R
Other names
p.S960R:AGC>AGG
Canonical SPDI
NC_000018.10:31546265:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00006
Links
ClinGen: CA021914
dbSNP: rs374807974
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Mar 25, 2014 RCV000181192.1
Uncertain significance 1 criteria provided, single submitter Oct 30, 2019 RCV001189657.1
Uncertain significance 1 criteria provided, single submitter Aug 27, 2020 RCV001373740.1
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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
DSG2-AS1 - - - GRCh38 - 435

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Mar 25, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000233470.10
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Uncertain significance
(Oct 30, 2019)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
Color Health, Inc
Accession: SCV001356988.1
Submitted: (May 19, 2020)
Comment:
This missense variant replaces serine with arginine at codon 960 of the DSG2 protein. Computational prediction tool suggests that this variant may not impact protein … (more)
Evidence details
Uncertain significance
(Aug 27, 2020)
criteria provided, single submitter
Method: clinical testing
Arrhythmogenic right ventricular cardiomyopathy, type 10
Allele origin: germline
Invitae
Accession: SCV001570472.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces serine with arginine at codon 960 of the DSG2 protein (p.Ser960Arg). The serine residue is moderately conserved and there is a … (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 rs374807974...

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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