NM_001943.5(DSG2):c.2714A>C (p.Glu905Ala) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Aug 7, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000520857.1

Allele description [Variation Report for NM_001943.5(DSG2):c.2714A>C (p.Glu905Ala)]

NM_001943.5(DSG2):c.2714A>C (p.Glu905Ala)

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.2714A>C (p.Glu905Ala)
HGVS:
  • NC_000018.10:g.31546100A>C
  • NG_007072.3:g.52859A>C
  • NM_001943.5:c.2714A>CMANE SELECT
  • NP_001934.2:p.Glu905Ala
  • LRG_397t1:c.2714A>C
  • LRG_397:g.52859A>C
  • NC_000018.9:g.29126063A>C
  • NM_001943.3:c.2714A>C
Protein change:
E905A
Links:
dbSNP: rs1555628237
NCBI 1000 Genomes Browser:
rs1555628237
Molecular consequence:
  • NM_001943.5:c.2714A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000619838GeneDxcriteria provided, single submitter
Uncertain significance
(Aug 7, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000619838.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The E905A variant of uncertain significance in the DSG2 gene has not been published as pathogenic or been reported as benign to our knowledge. E905A is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E905A variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Moreover, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Nevertheless, no pathogenic missense variants in nearby residues have been reported in the Human Gene Mutation Database (Stenson et al., 2014), indicating that this region of the gene is not known to harbor disease-causing variants.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 27, 2021

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