NM_001943.5(DSG2):c.2358A>C (p.Glu786Asp) AND Cardiomyopathy

Clinical significance:Uncertain significance (Last evaluated: Aug 27, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000769514.1

Allele description [Variation Report for NM_001943.5(DSG2):c.2358A>C (p.Glu786Asp)]

NM_001943.5(DSG2):c.2358A>C (p.Glu786Asp)

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.2358A>C (p.Glu786Asp)
HGVS:
  • NC_000018.10:g.31545744A>C
  • NG_007072.3:g.52503A>C
  • NM_001943.5:c.2358A>CMANE SELECT
  • NP_001934.2:p.Glu786Asp
  • LRG_397:g.52503A>C
  • NC_000018.9:g.29125707A>C
  • NM_001943.4:c.2358A>C
  • NR_045216.1:n.1508T>G
Protein change:
E786D
Links:
dbSNP: rs1567934256
NCBI 1000 Genomes Browser:
rs1567934256
Molecular consequence:
  • NM_001943.5:c.2358A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_045216.1:n.1508T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000900909CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario - Canadian Open Genetics Repositorycriteria provided, single submitter
Uncertain significance
(Aug 27, 2015)
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

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, SCV000900909.1

#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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