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

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000038583OMIMno assertion criteria providedPathogenic
(Jul 1, 2006)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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