NM_001943.5(DSG2):c.797A>G (p.Asn266Ser) AND Arrhythmogenic right ventricular cardiomyopathy, type 10

Clinical significance:Pathogenic (Last evaluated: Mar 7, 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:
RCV000018308.28

Allele description [Variation Report for NM_001943.5(DSG2):c.797A>G (p.Asn266Ser)]

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

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.797A>G (p.Asn266Ser)
HGVS:
  • NC_000018.10:g.31524554A>G
  • NG_007072.3:g.31313A>G
  • NM_001943.5:c.797A>GMANE SELECT
  • NP_001934.2:p.Asn266Ser
  • LRG_397t1:c.797A>G
  • LRG_397:g.31313A>G
  • LRG_397p1:p.Asn266Ser
  • NC_000018.9:g.29104517A>G
Protein change:
N266S; ASN266SER
Links:
OMIM: 125671.0006; dbSNP: rs121913011
NCBI 1000 Genomes Browser:
rs121913011
Molecular consequence:
  • NM_001943.5:c.797A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000038587OMIMno assertion criteria providedPathogenic
(Mar 7, 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

Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy.

Pilichou K, Nava A, Basso C, Beffagna G, Bauce B, Lorenzon A, Frigo G, Vettori A, Valente M, Towbin J, Thiene G, Danieli GA, Rampazzo A.

Circulation. 2006 Mar 7;113(9):1171-9. Epub 2006 Feb 27.

PubMed [citation]
PMID:
16505173

Details of each submission

From OMIM, SCV000038587.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 55-year-old woman with arrhythmogenic right ventricular dysplasia (ARVD10; 610193), Pilichou et al. (2006) identified heterozygosity for a 797A-G transition in exon 7 of the DSG2 gene, resulting in an asn266-to-ser (N266S) substitution at a highly conserved residue located in a putative calcium-binding site. An unaffected 32-year-old daughter also carried the mutation, as did a 24-year-old son, who was found to have negative T waves in V1 and V2 on ECG, right ventricular dilation and kinetic abnormalities on 2-D echocardiogram, and nonsustained ventricular arrhythmias.

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

Last Updated: Jan 25, 2021

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