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NM_001943.5(DSG2):c.2802A>G (p.Ile934Met) AND Dilated Cardiomyopathy, Dominant

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000340907.5

Allele description [Variation Report for NM_001943.5(DSG2):c.2802A>G (p.Ile934Met)]

NM_001943.5(DSG2):c.2802A>G (p.Ile934Met)

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.2802A>G (p.Ile934Met)
HGVS:
  • NC_000018.10:g.31546188A>G
  • NG_007072.3:g.52947A>G
  • NM_001943.5:c.2802A>GMANE SELECT
  • NP_001934.2:p.Ile934Met
  • LRG_397t1:c.2802A>G
  • LRG_397:g.52947A>G
  • NC_000018.9:g.29126151A>G
  • NM_001943.3:c.2802A>G
Protein change:
I934M
Links:
dbSNP: rs368584610
NCBI 1000 Genomes Browser:
rs368584610
Molecular consequence:
  • NM_001943.5:c.2802A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Dilated Cardiomyopathy, Dominant
Identifiers:
MedGen: CN239310

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000408257Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000408257.2

#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: Aug 4, 2024