NM_001943.5(DSG2):c.523+2T>C AND Cardiovascular phenotype

Clinical significance:Pathogenic (Last evaluated: Jun 15, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000241644.2

Allele description [Variation Report for NM_001943.5(DSG2):c.523+2T>C]

NM_001943.5(DSG2):c.523+2T>C

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.523+2T>C
HGVS:
  • NC_000018.10:g.31521245T>C
  • NG_007072.3:g.28004T>C
  • NM_001943.5:c.523+2T>CMANE SELECT
  • LRG_397t1:c.523+2T>C
  • LRG_397:g.28004T>C
  • NC_000018.9:g.29101208T>C
  • NM_001943.3:c.523+2T>C
  • c.523+2T>C
Links:
dbSNP: rs397516709
NCBI 1000 Genomes Browser:
rs397516709
Molecular consequence:
  • NM_001943.5:c.523+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000320191Ambry Geneticscriteria provided, single submitter
Pathogenic
(Jun 15, 2020)
germlineclinical testing

PubMed (9)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice.

Fressart V, Duthoit G, Donal E, Probst V, Deharo JC, Chevalier P, Klug D, Dubourg O, Delacretaz E, Cosnay P, Scanu P, Extramiana F, Keller D, Hidden-Lucet F, Simon F, Bessirard V, Roux-Buisson N, Hebert JL, Azarine A, Casset-Senon D, Rouzet F, Lecarpentier Y, et al.

Europace. 2010 Jun;12(6):861-8. doi: 10.1093/europace/euq104. Epub 2010 Apr 16.

PubMed [citation]
PMID:
20400443

Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Tan BY, Jain R, den Haan AD, Chen Y, Dalal D, Tandri H, Amat-Alarcon N, Daly A, Tichnell C, James C, Calkins H, Judge DP.

J Cardiovasc Transl Res. 2010 Dec;3(6):663-73. doi: 10.1007/s12265-010-9224-4. Epub 2010 Sep 21.

PubMed [citation]
PMID:
20857253
PMCID:
PMC3138067
See all PubMed Citations (9)

Details of each submission

From Ambry Genetics, SCV000320191.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (9)

Description

The c.523+2T>C intronic pathogenic mutation results from a T to C substitution two nucleotides after coding exon 5 of the DSG2 gene. This alteration has been previously reported in several patients with arrhythmogenic right ventricular cardiomyopathy (ARVC), sometimes in conjunction with other ARVC variants (Fressart V, Europace 2010 Jun; 12(6):861-8; Tan BY, J Cardiovasc Transl Res 2010 Dec; 3(6):663-73). This variant has also been detected in a sudden infant death syndrome cohort (Tester DJ et al. J. Am. Coll. Cardiol., 2018 03;71:1217-1227). In addition to the clinical data presented in the literature, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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