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.918G>A (p.Trp306Ter)

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jul 13, 2017)
Last evaluated:
Oct 5, 2011
Accession:
VCV000016811.2
Variation ID:
16811
Description:
single nucleotide variant
Help

NM_001943.5(DSG2):c.918G>A (p.Trp306Ter)

Allele ID
31850
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q12.1
Genomic location
18: 31524792 (GRCh38) GRCh38 UCSC
18: 29104755 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_397t1:c.918G>A LRG_397p1:p.Trp306Ter
LRG_397:g.31551G>A
NC_000018.10:g.31524792G>A
... more HGVS
Protein change
W306*
Other names
W305*
p.W306*:TGG>TGA
Canonical SPDI
NC_000018.10:31524791:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs121913007
ClinGen: CA022354
OMIM: 125671.0002
VarSome
Comment on variant
NCBI staff reviewed the sequence information reported in PubMed 16773573 to determine the location of this allele on current reference sequence.
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Oct 5, 2011 RCV000181248.2
Pathogenic 1 no assertion criteria provided Jul 1, 2006 RCV000018304.31
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
655 1113

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 05, 2011)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000233527.9
Submitted: (Jul 13, 2017)
Evidence details
Comment:
This variant is denoted Trp306Stop (aka W306X) at the protein level and c.918 G>A at the cDNA level. A G>A nucleotide substitution was identified in … (more)
Pathogenic
(Jul 01, 2006)
no assertion criteria provided
Method: literature only
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10
Allele origin: germline
OMIM
Accession: SCV000038583.5
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
DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. Awad MM American journal of human genetics 2006 PMID: 16773573

Text-mined citations for rs121913007...

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 Dec 04, 2021