NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely pathogenic(1);Uncertain significance(1) (Last evaluated: Mar 27, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000181231.4

Allele description [Variation Report for NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser)]

NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser)

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.2434G>A (p.Gly812Ser)
HGVS:
  • NC_000018.10:g.31545820G>A
  • NG_007072.3:g.52579G>A
  • NM_001943.5:c.2434G>AMANE SELECT
  • NP_001934.2:p.Gly812Ser
  • LRG_397t1:c.2434G>A
  • LRG_397:g.52579G>A
  • NC_000018.9:g.29125783G>A
  • NM_001943.3:c.2434G>A
  • NM_001943.4:c.2434G>A
  • NR_045216.1:n.1432C>T
  • p.G812S
Protein change:
G812S
Links:
dbSNP: rs121913010
NCBI 1000 Genomes Browser:
rs121913010
Molecular consequence:
  • NM_001943.5:c.2434G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_045216.1:n.1432C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000233510GeneDxcriteria provided, single submitter
Uncertain significance
(Mar 27, 2020)
germlineclinical testing

Citation Link,

SCV001151515CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely pathogenic
(Nov 1, 2018)
germlineclinical testing

Citation Link,

SCV001919564Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedUncertain significancegermlineclinical testing

SCV001970924Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedUncertain significancegermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000233510.11

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

Description

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: 30615648, 25213555, 23911551, 27532257, 28567303, 26633542, 20708101, 28454995, 30847666, 32516855, 31402444)

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

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001151515.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

From Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus, SCV001919564.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001970924.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2021

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