NM_001943.5(DSG2):c.2275G>A (p.Gly759Arg) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Mar 19, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000481316.1

Allele description [Variation Report for NM_001943.5(DSG2):c.2275G>A (p.Gly759Arg)]

NM_001943.5(DSG2):c.2275G>A (p.Gly759Arg)

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.2275G>A (p.Gly759Arg)
HGVS:
  • NC_000018.10:g.31542793G>A
  • NG_007072.3:g.49552G>A
  • NM_001943.5:c.2275G>AMANE SELECT
  • NP_001934.2:p.Gly759Arg
  • LRG_397t1:c.2275G>A
  • LRG_397:g.49552G>A
  • NC_000018.9:g.29122756G>A
  • NM_001943.3:c.2275G>A
  • NM_001943.4:c.2275G>A
Protein change:
G759R
Links:
dbSNP: rs765793636
NCBI 1000 Genomes Browser:
rs765793636
Molecular consequence:
  • NM_001943.5:c.2275G>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
SCV000571596GeneDxcriteria provided, single submitter
Uncertain significance
(Mar 19, 2018)
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, SCV000571596.3

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

Description

The G759R variant of uncertain significance in the DSG2 gene has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 0.002%-0.008% alleles across ethnic groups in large population cohorts (Lek et al., 2016). The G759R 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. Nevertheless, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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

Last Updated: Oct 8, 2021

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