NM_001943.5(DSG2):c.464_465insT (p.Glu156fs) AND Arrhythmogenic right ventricular cardiomyopathy, type 10

Clinical significance:Pathogenic (Last evaluated: Oct 5, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000799959.1

Allele description [Variation Report for NM_001943.5(DSG2):c.464_465insT (p.Glu156fs)]

NM_001943.5(DSG2):c.464_465insT (p.Glu156fs)

Gene:
DSG2:desmoglein 2 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_001943.5(DSG2):c.464_465insT (p.Glu156fs)
HGVS:
  • NC_000018.10:g.31521184_31521185insT
  • NG_007072.3:g.27943_27944insT
  • NM_001943.5:c.464_465insTMANE SELECT
  • NP_001934.2:p.Glu156fs
  • LRG_397t1:c.464_465insT
  • LRG_397:g.27943_27944insT
  • NC_000018.9:g.29101147_29101148insT
  • NM_001943.3:c.464_465insT
  • p.E156RfsX14
Protein change:
E156fs
Links:
dbSNP: rs794728091
NCBI 1000 Genomes Browser:
rs794728091
Molecular consequence:
  • NM_001943.5:c.464_465insT - 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
SCV000939651Invitaecriteria provided, single submitter
Pathogenic
(Oct 5, 2018)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000939651.1

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

Description

This sequence change creates a premature translational stop signal (p.Glu156Argfs*14) 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 in an individual affected with arrythmogenic right ventricular cardiomyopathy (PMID: 25616645). ClinVar contains an entry for this variant (Variation ID: 199822). 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: Sep 26, 2021

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