NM_001943.5(DSG2):c.1959G>A (p.Met653Ile) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 19, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000181228.1

Allele description [Variation Report for NM_001943.5(DSG2):c.1959G>A (p.Met653Ile)]

NM_001943.5(DSG2):c.1959G>A (p.Met653Ile)

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.1959G>A (p.Met653Ile)
Other names:
p.M653I:ATG>ATA
HGVS:
  • NC_000018.10:g.31541272G>A
  • NG_007072.3:g.48031G>A
  • NM_001943.5:c.1959G>AMANE SELECT
  • NP_001934.2:p.Met653Ile
  • LRG_397t1:c.1959G>A
  • LRG_397:g.48031G>A
  • NC_000018.9:g.29121235G>A
  • NM_001943.3:c.1959G>A
  • NM_001943.4:c.1959G>A
Protein change:
M653I
Links:
dbSNP: rs794728088
NCBI 1000 Genomes Browser:
rs794728088
Molecular consequence:
  • NM_001943.5:c.1959G>A - 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
SCV000233507GeneDxcriteria provided, single submitter
Uncertain significance
(Jun 19, 2014)
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, SCV000233507.9

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

Description

p.Met653Ile (ATG>ATA): c.1959 G>A in exon 13 of the DSG2 gene (NM_001943.3). The M653I variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The M653I 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 M653I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function, but at least two algorithms concur that this variant is possibly benign. Furthermore, no missense mutations in nearby residues have been reported in association with familial arrhythmia, indicating that this region of the protein may be tolerant of change. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in ARRHYTHMIA panel(s).

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

Last Updated: Oct 8, 2021

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