NM_001943.5(DSG2):c.1397C>T (p.Thr466Ile) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Oct 25, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000485460.1

Allele description [Variation Report for NM_001943.5(DSG2):c.1397C>T (p.Thr466Ile)]

NM_001943.5(DSG2):c.1397C>T (p.Thr466Ile)

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.1397C>T (p.Thr466Ile)
HGVS:
  • NC_000018.10:g.31535386C>T
  • NG_007072.3:g.42145C>T
  • NM_001943.5:c.1397C>TMANE SELECT
  • NP_001934.2:p.Thr466Ile
  • LRG_397t1:c.1397C>T
  • LRG_397:g.42145C>T
  • NC_000018.9:g.29115349C>T
  • NM_001943.3:c.1397C>T
  • NM_001943.4:c.1397C>T
Protein change:
T466I
Links:
dbSNP: rs769137357
NCBI 1000 Genomes Browser:
rs769137357
Molecular consequence:
  • NM_001943.5:c.1397C>T - 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
SCV000571941GeneDxcriteria provided, single submitter
Uncertain significance
(Oct 25, 2016)
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, SCV000571941.4

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

Description

A variant of uncertain significance has been identified in the DSG2 gene. The T466I variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The T466I 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. However, this substitution occurs at a position that is not conserved across species and where Isoleucine is the wild type the opossum. Finally, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the 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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