NM_001943.5(DSG2):c.973A>G (p.Thr325Ala) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Mar 8, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000523912.2

Allele description [Variation Report for NM_001943.5(DSG2):c.973A>G (p.Thr325Ala)]

NM_001943.5(DSG2):c.973A>G (p.Thr325Ala)

Gene:
DSG2:desmoglein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_001943.5(DSG2):c.973A>G (p.Thr325Ala)
HGVS:
  • NC_000018.10:g.31524847A>G
  • NG_007072.3:g.31606A>G
  • NM_001943.5:c.973A>GMANE SELECT
  • NP_001934.2:p.Thr325Ala
  • LRG_397t1:c.973A>G
  • LRG_397:g.31606A>G
  • NC_000018.9:g.29104810A>G
  • NM_001943.3:c.973A>G
Protein change:
T325A
Links:
dbSNP: rs745763739
NCBI 1000 Genomes Browser:
rs745763739
Molecular consequence:
  • NM_001943.5:c.973A>G - 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
SCV000619702GeneDxcriteria provided, single submitter
Uncertain significance
(Mar 8, 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, SCV000619702.2

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

Description

The T325A 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 not observed at a significant frequency in large population cohorts (Lek et al., 2016). The T325A 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. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. However, this variant lacks observation in a significant number of affected individuals, segregation data, and functional evidence, which would further clarify its pathogenicity.

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

Last Updated: Feb 27, 2021

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