NM_001943.5(DSG2):c.877A>T (p.Ile293Leu) AND Cardiovascular phenotype

Clinical significance:Uncertain significance (Last evaluated: Mar 10, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000621307.1

Allele description [Variation Report for NM_001943.5(DSG2):c.877A>T (p.Ile293Leu)]

NM_001943.5(DSG2):c.877A>T (p.Ile293Leu)

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.877A>T (p.Ile293Leu)
Other names:
p.I293L:ATA>TTA
HGVS:
  • NC_000018.10:g.31524751A>T
  • NG_007072.3:g.31510A>T
  • NM_001943.5:c.877A>TMANE SELECT
  • NP_001934.2:p.Ile293Leu
  • LRG_397t1:c.877A>T
  • LRG_397:g.31510A>T
  • NC_000018.9:g.29104714A>T
  • NM_001943.3:c.877A>T
  • NM_001943.4:c.877A>T
Protein change:
I293L
Links:
dbSNP: rs2230234
NCBI 1000 Genomes Browser:
rs2230234
Molecular consequence:
  • NM_001943.5:c.877A>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000736753Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Mar 10, 2019)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.

Klauke B, Kossmann S, Gaertner A, Brand K, Stork I, Brodehl A, Dieding M, Walhorn V, Anselmetti D, Gerdes D, Bohms B, Schulz U, Zu Knyphausen E, Vorgerd M, Gummert J, Milting H.

Hum Mol Genet. 2010 Dec 1;19(23):4595-607. doi: 10.1093/hmg/ddq387. Epub 2010 Sep 9.

PubMed [citation]
PMID:
20829228

Details of each submission

From Ambry Genetics, SCV000736753.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.I293L variant (also known as c.877A>T), located in coding exon 8 of the DSG2 gene, results from an A to T substitution at nucleotide position 877. The isoleucine at codon 293 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, leucine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Jun 19, 2021

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