NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter) AND Cardiomyopathy

Clinical significance:Uncertain significance (Last evaluated: Oct 16, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000769518.2

Allele description [Variation Report for NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter)]

NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter)

Genes:
DSG2-AS1:DSG2 antisense RNA 1 [Gene - HGNC]
DSG2:desmoglein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter)
HGVS:
  • NC_000018.10:g.31546425C>A
  • NG_007072.3:g.53184C>A
  • NM_001943.5:c.3039C>AMANE SELECT
  • NP_001934.2:p.Tyr1013Ter
  • LRG_397t1:c.3039C>A
  • LRG_397:g.53184C>A
  • NC_000018.9:g.29126388C>A
  • NM_001943.3:c.3039C>A
  • NM_001943.4:c.3039C>A
Protein change:
Y1013*
Links:
dbSNP: rs539821357
NCBI 1000 Genomes Browser:
rs539821357
Molecular consequence:
  • NM_001943.5:c.3039C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Cardiomyopathy (CMYO)
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
SCV000900913CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario - Canadian Open Genetics Repositorycriteria provided, single submitter
Uncertain significance
(Nov 30, 2016)
germlineclinical testing

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

SCV001343658Color Health, Inccriteria provided, single submitter
Uncertain significance
(Oct 16, 2019)
germlineclinical testing

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

Description

This variant changes 1 nucleotide in exon 15 of the DSG2 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 18/280770 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Clinical significance of loss-of-function truncations variants in the DSC2 gene is not clearly established. The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

SCV001343658

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository, SCV000900913.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Color Health, Inc, SCV001343658.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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