NM_001943.5(DSG2):c.676_680del (p.Thr226fs) AND Arrhythmogenic right ventricular cardiomyopathy, type 10

Clinical significance:Pathogenic (Last evaluated: Feb 12, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001389001.1

Allele description [Variation Report for NM_001943.5(DSG2):c.676_680del (p.Thr226fs)]

NM_001943.5(DSG2):c.676_680del (p.Thr226fs)

Gene:
DSG2:desmoglein 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_001943.5(DSG2):c.676_680del (p.Thr226fs)
HGVS:
  • NC_000018.10:g.31522235_31522239del
  • NG_007072.3:g.28994_28998del
  • NM_001943.5:c.676_680delMANE SELECT
  • NP_001934.2:p.Thr226fs
  • LRG_397:g.28994_28998del
  • NC_000018.9:g.29102196_29102200del
  • NC_000018.9:g.29102198_29102202del
Protein change:
T226fs
Links:
Molecular consequence:
  • NM_001943.5:c.676_680del - 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
SCV001590202Invitaecriteria provided, single submitter
Pathogenic
(Feb 12, 2020)
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

Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease.

Haskell GT, Jensen BC, Samsa LA, Marchuk D, Huang W, Skrzynia C, Tilley C, Seifert BA, Rivera-Muñoz EA, Koller B, Wilhelmsen KC, Liu J, Alhosaini H, Weck KE, Evans JP, Berg JS.

Circ Cardiovasc Genet. 2017 Jun;10(3). doi:pii: e001443. 10.1161/CIRCGENETICS.116.001443.

PubMed [citation]
PMID:
28611029
PMCID:
PMC5497793

Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy.

Rasmussen TB, Palmfeldt J, Nissen PH, Magnoni R, Dalager S, Jensen UB, Kim WY, Heickendorff L, Mølgaard H, Jensen HK, Baandrup UT, Bross P, Mogensen J.

Hum Mutat. 2013 May;34(5):697-705. doi: 10.1002/humu.22289. Epub 2013 Mar 11.

PubMed [citation]
PMID:
23381804
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV001590202.1

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

Description

This sequence change creates a premature translational stop signal (p.Thr226Glyfs*40) in the DSG2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be homozygous in an individual affected with hypertrophic cardiomyopathy (PMID: 28611029). This variant is also known as c.674_678delTTACC in the literature. Loss-of-function variants in DSG2 are known to be pathogenic (PMID: 23381804, 23911551). 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: May 14, 2021

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