NM_001943.5(DSG2):c.2620del (p.Thr874fs) AND Arrhythmogenic right ventricular cardiomyopathy, type 10

Clinical significance:Pathogenic (Last evaluated: Mar 12, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001036046.2

Allele description [Variation Report for NM_001943.5(DSG2):c.2620del (p.Thr874fs)]

NM_001943.5(DSG2):c.2620del (p.Thr874fs)

Genes:
DSG2-AS1:DSG2 antisense RNA 1 [Gene - HGNC]
DSG2:desmoglein 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_001943.5(DSG2):c.2620del (p.Thr874fs)
HGVS:
  • NC_000018.10:g.31546006del
  • NG_007072.3:g.52765del
  • NM_001943.5:c.2620delMANE SELECT
  • NP_001934.2:p.Thr874fs
  • LRG_397t1:c.2620del
  • LRG_397:g.52765del
  • NC_000018.9:g.29125967del
  • NC_000018.9:g.29125969del
  • NM_001943.3:c.2620del
Protein change:
T874fs
Links:
dbSNP: rs755243947
NCBI 1000 Genomes Browser:
rs755243947
Molecular consequence:
  • NM_001943.5:c.2620del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001199392Invitaecriteria provided, single submitter
Pathogenic
(Mar 12, 2019)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy.

Lahtinen AM, Lehtonen E, Marjamaa A, Kaartinen M, Heliƶ T, Porthan K, Oikarinen L, Toivonen L, Swan H, Jula A, Peltonen L, Palotie A, Salomaa V, Kontula K.

Heart Rhythm. 2011 Aug;8(8):1214-21. doi: 10.1016/j.hrthm.2011.03.015. Epub 2011 Mar 10.

PubMed [citation]
PMID:
21397041

Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.

Christensen AH, Benn M, Bundgaard H, Tybjaerg-Hansen A, Haunso S, Svendsen JH.

J Med Genet. 2010 Nov;47(11):736-44. doi: 10.1136/jmg.2010.077891. Epub 2010 Sep 23.

PubMed [citation]
PMID:
20864495
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV001199392.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change results in a premature translational stop signal in the DSG2 gene (p.Thr874Leufs*29). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 245 amino acids of the DSG2 protein. This variant is present in population databases (rs755243947, ExAC 0.002%). This variant has not been reported in the literature in individuals with DSG2-related conditions. This variant disrupts the C-terminus of the DSG2 protein. Other variant(s) that disrupt this region (p.Glu1020Alafs*18) have been determined to be pathogenic (PMID: 21397041, 20864495, 23381804). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Nov 27, 2021

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