NM_001943.5(DSG2):c.2360A>G (p.Asp787Gly) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Nov 18, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001193616.1

Allele description [Variation Report for NM_001943.5(DSG2):c.2360A>G (p.Asp787Gly)]

NM_001943.5(DSG2):c.2360A>G (p.Asp787Gly)

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.2360A>G (p.Asp787Gly)
Other names:
p.D787G:GAT>GGT
HGVS:
  • NC_000018.10:g.31545746A>G
  • NG_007072.3:g.52505A>G
  • NM_001943.5:c.2360A>GMANE SELECT
  • NP_001934.2:p.Asp787Gly
  • LRG_397t1:c.2360A>G
  • LRG_397:g.52505A>G
  • NC_000018.9:g.29125709A>G
  • NM_001943.3:c.2360A>G
  • NM_001943.4:c.2360A>G
  • NR_045216.1:n.1506T>C
Protein change:
D787G
Links:
dbSNP: rs369868954
NCBI 1000 Genomes Browser:
rs369868954
Molecular consequence:
  • NM_001943.5:c.2360A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_045216.1:n.1506T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001362565Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(Nov 18, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001362565.1

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

Description

Variant summary: DSG2 c.2360A>G (p.Asp787Gly) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2.8e-05 in 249394 control chromosomes, predominantly at a frequency of 0.00045 within the African or African-American subpopulation in the gnomAD database. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2360A>G in individuals affected with Cardiomyopathy and no experimental evidence demonstrating an impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Oct 8, 2021

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