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NM_001943.5(DSG2):c.3266G>T (p.Gly1089Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 2, 2021)
Last evaluated:
Mar 8, 2021
Accession:
VCV000191632.7
Variation ID:
191632
Description:
single nucleotide variant
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NM_001943.5(DSG2):c.3266G>T (p.Gly1089Val)

Allele ID
189993
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q12.1
Genomic location
18: 31546652 (GRCh38) GRCh38 UCSC
18: 29126615 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_397t1:c.3266G>T
LRG_397:g.53411G>T
NC_000018.10:g.31546652G>T
... more HGVS
Protein change
G1089V
Other names
-
Canonical SPDI
NC_000018.10:31546651:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00005
Links
ClinGen: CA022040
dbSNP: rs200264407
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Mar 8, 2021 RCV000171906.3
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Mar 18, 2020 RCV001170381.2
Uncertain significance 1 criteria provided, single submitter Mar 13, 2019 RCV001050763.1
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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
Uncertain significance
(Jun 24, 2013)
criteria provided, single submitter
Method: research
Not provided
Allele origin: unknown
Biesecker Lab/Clinical Genomics Section,National Institutes of Health
Study: ClinSeq
Accession: SCV000050908.1
Submitted: (Mar 10, 2015)
Comments (2):
The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:23861362 for … (more)
Medical sequencing
Evidence details
Uncertain significance
(Nov 07, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario
Accession: SCV001332958.1
Submitted: (Mar 03, 2020)
Evidence details
Uncertain significance
(Mar 18, 2020)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
Color Health, Inc
Accession: SCV001343359.1
Submitted: (May 19, 2020)
Comment:
This missense variant replaces glycine with valine at codon 1089 of the DSG2 protein. Computational prediction suggests that this variant may not impact protein structure … (more)
Evidence details
Uncertain significance
(Mar 13, 2019)
criteria provided, single submitter
Method: clinical testing
Arrhythmogenic right ventricular cardiomyopathy, type 10
Allele origin: germline
Invitae
Accession: SCV001214885.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces glycine with valine at codon 1089 of the DSG2 protein (p.Gly1089Val). The glycine residue is weakly conserved and there is a … (more)
Uncertain significance
(Mar 08, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001826587.1
Submitted: (Sep 02, 2021)
Evidence details
Comment:
Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Reported in ClinVar but additional evidence is not available (ClinVar Variant … (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 rs200264407...

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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