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.797A>G (p.Asn266Ser)

Help
Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Mar 7, 2006
Accession:
VCV000016815.1
Variation ID:
16815
Description:
single nucleotide variant
Help

NM_001943.5(DSG2):c.797A>G (p.Asn266Ser)

Allele ID
31854
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q12.1
Genomic location
18: 31524554 (GRCh38) GRCh38 UCSC
18: 29104517 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.31524554A>G
NC_000018.9:g.29104517A>G
NM_001943.5:c.797A>G MANE Select NP_001934.2:p.Asn266Ser missense
... more HGVS
Protein change
N266S
Other names
-
Canonical SPDI
NC_000018.10:31524553:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA022263
OMIM: 125671.0006
dbSNP: rs121913011
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Mar 7, 2006 RCV000018308.28
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
Pathogenic
(Mar 07, 2006)
no assertion criteria provided
Method: literature only
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10
Allele origin: germline
OMIM
Accession: SCV000038587.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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
Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Pilichou K Circulation 2006 PMID: 16505173

Text-mined citations for rs121913011...

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 Jan 25, 2021