NM_001943.5(DSG2):c.889G>A (p.Asp297Asn) AND Cardiomyopathy

Clinical significance:Uncertain significance (Last evaluated: Dec 14, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001189659.1

Allele description [Variation Report for NM_001943.5(DSG2):c.889G>A (p.Asp297Asn)]

NM_001943.5(DSG2):c.889G>A (p.Asp297Asn)

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.889G>A (p.Asp297Asn)
Other names:
p.D297N:GAT>AAT
HGVS:
  • NC_000018.10:g.31524763G>A
  • NG_007072.3:g.31522G>A
  • NM_001943.5:c.889G>AMANE SELECT
  • NP_001934.2:p.Asp297Asn
  • LRG_397t1:c.889G>A
  • LRG_397:g.31522G>A
  • NC_000018.9:g.29104726G>A
  • NM_001943.3:c.889G>A
  • NM_001943.4:c.889G>A
Protein change:
D297N
Links:
dbSNP: rs751012696
NCBI 1000 Genomes Browser:
rs751012696
Molecular consequence:
  • NM_001943.5:c.889G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001356990Color Health, Inccriteria provided, single submitter
Uncertain significance
(Dec 14, 2018)
germlineclinical testing

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

Description

Variant of Uncertain Significance due to insufficient evidence: This missense variant is located in the extracellular cadherin domain 3 of the DSG2 protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant. This variant has been reported in two individuals affected with arrhythmogenic right ventricular cardiomyopathy (PMID: 20031616, PMID: 20857253). One of these individuals was homozygous for this variant (PMID: 20031616). This variant has also been identified in 3/277036 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.

SCV001356990

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 Color Health, Inc, SCV001356990.1

#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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