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NM_001943.5(DSG2):c.3052dup (p.Glu1018fs) AND Cardiomyopathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 24, 2022
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:
RCV002282534.1

Allele description [Variation Report for NM_001943.5(DSG2):c.3052dup (p.Glu1018fs)]

NM_001943.5(DSG2):c.3052dup (p.Glu1018fs)

Genes:
DSG2-AS1:DSG2 antisense RNA 1 [Gene - HGNC]
DSG2:desmoglein 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_001943.5(DSG2):c.3052dup (p.Glu1018fs)
HGVS:
  • NC_000018.10:g.31546438dup
  • NG_007072.3:g.53197dup
  • NM_001943.5:c.3052dupMANE SELECT
  • NP_001934.2:p.Glu1018fs
  • LRG_397:g.53197dup
  • NC_000018.9:g.29126398_29126399insG
  • NC_000018.9:g.29126401dup
  • NM_001943.3:c.3052dupG
  • NM_001943.4:c.3052dupG
Protein change:
E1018fs
Links:
dbSNP: rs1261674855
NCBI 1000 Genomes Browser:
rs1261674855
Molecular consequence:
  • NM_001943.5:c.3052dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cardiomyopathy (CMYO)
Synonyms:
Cardiomyopathies
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002572293Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Likely pathogenic
(Aug 24, 2022)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002572293.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: DSG2 c.3052dupG (p.Glu1018GlyfsX20), located in the last exon (stop codon spans c.3355 to c.3357 at position 1119), results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 8e-06 in 249390 control chromosomes (gnomAD). To our knowledge, no occurrence of c.3052dupG in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted a clinical-significance assessment for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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

Last Updated: Sep 29, 2024