NM_001943.5(DSG2):c.*25del AND Dilated Cardiomyopathy, Dominant

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000342497.2

Allele description [Variation Report for NM_001943.5(DSG2):c.*25del]

NM_001943.5(DSG2):c.*25del

Genes:
DSG2-AS1:DSG2 antisense RNA 1 [Gene - HGNC]
DSG2:desmoglein 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_001943.5(DSG2):c.*25del
HGVS:
  • NC_000018.10:g.31546768del
  • NG_007072.3:g.53527del
  • NM_001943.5:c.*25delMANE SELECT
  • LRG_397t1:c.*25del
  • LRG_397:g.53527del
  • NC_000018.9:g.29126731del
  • NM_001943.3:c.*25delC
Links:
dbSNP: rs886053717
NCBI 1000 Genomes Browser:
rs886053717
Molecular consequence:
  • NM_001943.5:c.*25del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Dilated Cardiomyopathy, Dominant
Identifiers:
MedGen: CN239310

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000408274Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000408274.2

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

Last Updated: Sep 29, 2021

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