NM_001943.5(DSG2):c.2953G>A (p.Val985Ile) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Feb 1, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000489811.1

Allele description [Variation Report for NM_001943.5(DSG2):c.2953G>A (p.Val985Ile)]

NM_001943.5(DSG2):c.2953G>A (p.Val985Ile)

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.2953G>A (p.Val985Ile)
HGVS:
  • NC_000018.10:g.31546339G>A
  • NG_007072.3:g.53098G>A
  • NM_001943.5:c.2953G>AMANE SELECT
  • NP_001934.2:p.Val985Ile
  • LRG_397t1:c.2953G>A
  • LRG_397:g.53098G>A
  • NC_000018.9:g.29126302G>A
  • NM_001943.3:c.2953G>A
  • NM_001943.4:c.2953G>A
Protein change:
V985I
Links:
dbSNP: rs749540432
NCBI 1000 Genomes Browser:
rs749540432
Molecular consequence:
  • NM_001943.5:c.2953G>A - 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
SCV000577571GeneDxcriteria provided, single submitter
Uncertain significance
(Feb 1, 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, SCV000577571.4

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

Description

The V985I variant of uncertain significance in the DSG2 gene has not been published as pathogenic or benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Nevertheless, V985I is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution also occurs at a position where amino acids with similar properties to valine are tolerated across species, and isoleucine is the wild type in at least two species. In silico analysis predicts this variant likely does not alter the protein structure/function. Moreover, no missense variants in nearby residues have been reported in the Human Gene Mutation Database in association with cardiomyopathy (Stenson et al., 2014).

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

Last Updated: Jun 19, 2021

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