NM_001943.5(DSG2):c.1105A>G (p.Lys369Glu) AND Primary dilated cardiomyopathy

Clinical significance:Uncertain significance (Last evaluated: Sep 29, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000157184.1

Allele description [Variation Report for NM_001943.5(DSG2):c.1105A>G (p.Lys369Glu)]

NM_001943.5(DSG2):c.1105A>G (p.Lys369Glu)

Gene:
DSG2:desmoglein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_001943.5(DSG2):c.1105A>G (p.Lys369Glu)
HGVS:
  • NC_000018.10:g.31531077A>G
  • NG_007072.3:g.37836A>G
  • NM_001943.5:c.1105A>GMANE SELECT
  • NP_001934.2:p.Lys369Glu
  • LRG_397t1:c.1105A>G
  • LRG_397:g.37836A>G
  • NC_000018.9:g.29111040A>G
  • NM_001943.3:c.1105A>G
  • NM_001943.4:c.1105A>G
Protein change:
K369E
Links:
dbSNP: rs727505208
NCBI 1000 Genomes Browser:
rs727505208
Molecular consequence:
  • NM_001943.5:c.1105A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Primary dilated cardiomyopathy (DCM)
Synonyms:
Congestive cardiomyopathy; Dilated Cardiomyopathy
Identifiers:
EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000206908Blueprint Geneticsno assertion criteria providedUncertain significance
(Sep 29, 2014)
germlineclinical testing

Description

Found together with likely pathogenic TTN:NM_001267550.1:c.69783G>A

SCV000206908

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Blueprint Genetics, SCV000206908.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 29, 2021

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