NM_001943.5(DSG2):c.2923del (p.Leu974_Val975insTer) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Feb 2, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000181209.2

Allele description [Variation Report for NM_001943.5(DSG2):c.2923del (p.Leu974_Val975insTer)]

NM_001943.5(DSG2):c.2923del (p.Leu974_Val975insTer)

Genes:
DSG2-AS1:DSG2 antisense RNA 1 [Gene - HGNC]
DSG2:desmoglein 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_001943.5(DSG2):c.2923del (p.Leu974_Val975insTer)
Other names:
p.V975*:GTA>TAG
HGVS:
  • NC_000018.10:g.31546309del
  • NG_007072.3:g.53068del
  • NM_001943.5:c.2923delMANE SELECT
  • NP_001934.2:p.Leu974_Val975insTer
  • LRG_397t1:c.2923del
  • LRG_397:g.53068del
  • NC_000018.9:g.29126272del
  • NM_001943.3:c.2923delG
Links:
dbSNP: rs794728084
NCBI 1000 Genomes Browser:
rs794728084
Molecular consequence:
  • NM_001943.5:c.2923del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000233487GeneDxcriteria provided, single submitter
Likely pathogenic
(Feb 2, 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, SCV000233487.8

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

Description

Although the c.2923delG likely pathogenic variant in the DSG2 gene has not been reported to our knowledge, this variant has been identified in one other unrelated individual referred for ARVC genetic testing at GeneDx. The c.2923delG variant causes a shift in reading frame resulting in a nonsense change at codon 975, denoted p.Val975Stop. This likely pathogenic variant is expected to result in an abnormal, truncated protein product with loss of the last 144 amino acid residues. Multiple other frameshift and nonsense variants in the DSG2 gene have been reported in Human Gene Mutation Database in association with ARVC (Stenson et al., 2014). Furthermore, the c.2923delG variant has not been observed in large population cohorts (Lek et al., 2016).

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

Last Updated: Feb 27, 2021

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