NM_001943.5(DSG2):c.523+2T>C AND not provided

Clinical significance:Pathogenic (Last evaluated: Jul 20, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000181206.3

Allele description [Variation Report for NM_001943.5(DSG2):c.523+2T>C]

NM_001943.5(DSG2):c.523+2T>C

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.523+2T>C
HGVS:
  • NC_000018.10:g.31521245T>C
  • NG_007072.3:g.28004T>C
  • NM_001943.5:c.523+2T>CMANE SELECT
  • LRG_397t1:c.523+2T>C
  • LRG_397:g.28004T>C
  • NC_000018.9:g.29101208T>C
  • NM_001943.3:c.523+2T>C
  • c.523+2T>C
Links:
dbSNP: rs397516709
NCBI 1000 Genomes Browser:
rs397516709
Molecular consequence:
  • NM_001943.5:c.523+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000233484GeneDxcriteria provided, single submitter
Pathogenic
(Jul 20, 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, SCV000233484.12

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

Description

The c.523+2 T>C variant has been reported in multiple unrelated individuals with arrhythmogenic right ventricular cardiomyopathy (ARVC) (Fressart et al., 2010; Tan et al., 2010). The c.523+2 T>C variant was not observed in approximately 5,900 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant destroys the canonical splice donor site in intron 5 and is predicted to cause abnormal gene splicing. Other splice site variants in the DSG2 gene have been reported in the Human Gene Mutation Database in association with ARVC (Stenson et al., 2014). In summary, c.523+2 T>C in the DSG2 gene is interpreted as a pathogenic variant. However, other genetic and environmental factors influence disease expression and severity, and some carriers may never become symptomatic. The variant is found in ARVC panel(s).

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

Last Updated: Jul 7, 2021

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