NM_001943.5(DSG2):c.495dup (p.Gly166fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Apr 28, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000290082.5

Allele description [Variation Report for NM_001943.5(DSG2):c.495dup (p.Gly166fs)]

NM_001943.5(DSG2):c.495dup (p.Gly166fs)

Gene:
DSG2:desmoglein 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_001943.5(DSG2):c.495dup (p.Gly166fs)
HGVS:
  • NC_000018.10:g.31521215dup
  • NG_007072.3:g.27974dup
  • NM_001943.5:c.495dupMANE SELECT
  • NP_001934.2:p.Gly166fs
  • LRG_397t1:c.495dup
  • LRG_397:g.27974dup
  • NC_000018.9:g.29101176_29101177insT
  • NC_000018.9:g.29101178dup
  • NM_001943.3:c.495dup
  • NM_001943.3:c.495dupT
Protein change:
G166fs
Links:
dbSNP: rs781532110
NCBI 1000 Genomes Browser:
rs781532110
Molecular consequence:
  • NM_001943.5:c.495dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000330130GeneDxcriteria provided, single submitter
Pathogenic
(Apr 28, 2021)
germlineclinical testing

Citation Link,

SCV002021789PerkinElmer Genomicsno assertion criteria providedPathogenic
(Jul 22, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000330130.5

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

Description

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); Observed in patients with ARVC referred for genetic testing at GeneDx and in the published literature (Walsh et al., 2017); Reported in ClinVar as pathogenic (ClinVar Variant ID# 280230; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 31447099, 31402444, 27532257)

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

From PerkinElmer Genomics, SCV002021789.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 28, 2021

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