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NM_001943.5(DSG2):c.523+2T>C AND Arrhythmogenic right ventricular dysplasia 10

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 10, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000232524.6

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]

Condition(s)

Name:
Arrhythmogenic right ventricular dysplasia 10
Synonyms:
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; Arrhythmogenic right ventricular cardiomyopathy, type 10; Arrhythmogenic right ventricular dysplasia/cardiomyopathy, type 10; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012434; MedGen: C1857777; OMIM: 610193

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000287244Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 10, 2023) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Long-term results after balloon pulmonary valvuloplasty.

McCrindle BW, Kan JS.

Circulation. 1991 Jun;83(6):1915-22.

PubMed [citation]
PMID:
2040044

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 (6)

Details of each submission

From Invitae, SCV000287244.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

This variant is present in population databases (rs397516709, gnomAD 0.002%). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 44321). Disruption of this splice site has been observed in individuals with arrhythmogenic right ventricular cardiomyopathy (PMID: 2040044, 20857253). This sequence change affects a donor splice site in intron 5 of the DSG2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DSG2 are known to be pathogenic (PMID: 17105751, 31386562).

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

Last Updated: May 7, 2024