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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 17, 2019
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:
RCV002336442.2

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:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002639892Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(May 17, 2019) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers.

Bhonsale A, Groeneweg JA, James CA, Dooijes D, Tichnell C, Jongbloed JD, Murray B, te Riele AS, van den Berg MP, Bikker H, Atsma DE, de Groot NM, Houweling AC, van der Heijden JF, Russell SD, Doevendans PA, van Veen TA, Tandri H, Wilde AA, Judge DP, van Tintelen JP, Calkins H, et al.

Eur Heart J. 2015 Apr 7;36(14):847-55. doi: 10.1093/eurheartj/ehu509. Epub 2015 Jan 23.

PubMed [citation]
PMID:
25616645

Details of each submission

From Ambry Genetics, SCV002639892.2

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

Description

The c.464_465insT pathogenic mutation, located in coding exon 5 of the DSG2 gene, results from an insertion of one nucleotide at position 464, causing a translational frameshift with a predicted alternate stop codon (p.E156Rfs*14). This mutation was identified in 1 individual from an arrhythmogenic right ventricular cardiomyopathy registry (Bhonsale A et al. Eur. Heart J., 2015 Apr;36:847-55). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: May 7, 2024