NM_001943.5(DSG2):c.464_465insT (p.Glu156fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Mar 8, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000181238.2

Allele description [Variation Report for NM_001943.5(DSG2):c.464_465insT (p.Glu156fs)]

NM_001943.5(DSG2):c.464_465insT (p.Glu156fs)

Gene:
DSG2:desmoglein 2 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_001943.5(DSG2):c.464_465insT (p.Glu156fs)
HGVS:
  • NC_000018.10:g.31521184_31521185insT
  • NG_007072.3:g.27943_27944insT
  • NM_001943.5:c.464_465insTMANE SELECT
  • NP_001934.2:p.Glu156fs
  • LRG_397t1:c.464_465insT
  • LRG_397:g.27943_27944insT
  • NC_000018.9:g.29101147_29101148insT
  • NM_001943.3:c.464_465insT
  • p.E156RfsX14
Protein change:
E156fs
Links:
dbSNP: rs794728091
NCBI 1000 Genomes Browser:
rs794728091
Molecular consequence:
  • NM_001943.5:c.464_465insT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000233517GeneDxcriteria provided, single submitter
Pathogenic
(Mar 8, 2019)
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, SCV000233517.4

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

Description

Reported in at least one individual in association with ARVC in published literature (Bhonsale et al., 2015) and other individuals referred for ARVC genetic testing at GeneDx; Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 25616645, 31386562, 31589614)

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

Last Updated: Sep 26, 2021

Support Center