NM_001943.5(DSG2):c.3044T>C (p.Met1015Thr) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Oct 19, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000521532.1

Allele description [Variation Report for NM_001943.5(DSG2):c.3044T>C (p.Met1015Thr)]

NM_001943.5(DSG2):c.3044T>C (p.Met1015Thr)

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.3044T>C (p.Met1015Thr)
HGVS:
  • NC_000018.10:g.31546430T>C
  • NG_007072.3:g.53189T>C
  • NM_001943.5:c.3044T>CMANE SELECT
  • NP_001934.2:p.Met1015Thr
  • LRG_397t1:c.3044T>C
  • LRG_397:g.53189T>C
  • NC_000018.9:g.29126393T>C
  • NM_001943.3:c.3044T>C
  • NM_001943.4:c.3044T>C
Protein change:
M1015T
Links:
dbSNP: rs886053716
NCBI 1000 Genomes Browser:
rs886053716
Molecular consequence:
  • NM_001943.5:c.3044T>C - 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
SCV000617003GeneDxcriteria provided, single submitter
Uncertain significance
(Oct 19, 2017)
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, SCV000617003.1

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

Description

A variant of uncertain significance has been identified in the DSG2 gene. The M1015T variant 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 M1015T 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 where amino acids with similar properties to methionine (M) are tolerated across species. Finally, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.

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

Last Updated: Jun 19, 2021

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