NM_001943.5(DSG2):c.918G>A (p.Trp306Ter) AND Arrhythmogenic right ventricular cardiomyopathy, type 10

Clinical significance:Pathogenic (Last evaluated: Jul 1, 2006)
Review status:(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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Based on:: 1 submission [Details]
Record status:: current
Accession:: RCV000018304.31

Allele description [Variation Report for NM_001943.5(DSG2):c.918G>A (p.Trp306Ter)]

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

Gene:

DSG2:desmoglein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q12.1

Genomic location:

Preferred name:

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

Other names:

W305*; p.W306*:TGG>TGA

HGVS:

NC_000018.10:g.31524792G>A
NG_007072.3:g.31551G>A
NM_001943.5:c.918G>AMANE SELECT
NP_001934.2:p.Trp306Ter
LRG_397t1:c.918G>A
LRG_397:g.31551G>A
LRG_397p1:p.Trp306Ter
NC_000018.9:g.29104755G>A
NG_007072.2:g.31551G>A
NM_001943.3:c.918G>A

Note:

NCBI staff reviewed the sequence information reported in PubMed 16773573 to determine the location of this allele on current reference sequence.

Protein change:

W306*; TRP305TER

Links:

OMIM: 125671.0002; dbSNP: rs121913007

NCBI 1000 Genomes Browser:

rs121913007

Molecular consequence:

NM_001943.5:c.918G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Arrhythmogenic right ventricular cardiomyopathy, type 10 (ARVD10)
Synonyms:: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; Arrhythmogenic right ventricular dysplasia type 10; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy10
Identifiers:: MONDO: MONDO:0012434; MedGen: C1857777; OMIM: 610193

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000038583	OMIM	no assertion criteria provided	Pathogenic (Jul 1, 2006)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000038583

OMIM

no assertion criteria provided

Pathogenic
(Jul 1, 2006)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Awad MM, Dalal D, Cho E, Amat-Alarcon N, James C, Tichnell C, Tucker A, Russell SD, Bluemke DA, Dietz HC, Calkins H, Judge DP.

Am J Hum Genet. 2006 Jul;79(1):136-42. Epub 2006 Apr 28.

PubMed [citation]

PMID:: 16773573
PMCID:: PMC1474134

Details of each submission

From OMIM, SCV000038583.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

For discussion of the trp305-to-ter (W305X) mutation in the DSG2 gene that was found in compound heterozygous state in a patient with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD10; 610193) by Awad et al. (2006), see 125671.0001.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 27, 2021

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