NM_001943.5(DSG2):c.2360A>G (p.Asp787Gly) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Aug 23, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000181251.3

Allele description [Variation Report for NM_001943.5(DSG2):c.2360A>G (p.Asp787Gly)]

NM_001943.5(DSG2):c.2360A>G (p.Asp787Gly)

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.2360A>G (p.Asp787Gly)
Other names:
p.D787G:GAT>GGT
HGVS:
  • NC_000018.10:g.31545746A>G
  • NG_007072.3:g.52505A>G
  • NM_001943.5:c.2360A>GMANE SELECT
  • NP_001934.2:p.Asp787Gly
  • LRG_397t1:c.2360A>G
  • LRG_397:g.52505A>G
  • NC_000018.9:g.29125709A>G
  • NM_001943.3:c.2360A>G
  • NM_001943.4:c.2360A>G
  • NR_045216.1:n.1506T>C
Protein change:
D787G
Links:
dbSNP: rs369868954
NCBI 1000 Genomes Browser:
rs369868954
Molecular consequence:
  • NM_001943.5:c.2360A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_045216.1:n.1506T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000233530GeneDxcriteria provided, single submitter
Uncertain significance
(Aug 23, 2021)
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, SCV000233530.11

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar (ClinVar Variant ID# 199832; Landrum et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26582918)

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

Last Updated: Oct 8, 2021

Support Center