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NM_001943.5(DSG2):c.266A>G (p.Tyr89Cys)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
12 (Most recent: Sep 30, 2021)
Last evaluated:
Nov 28, 2020
Accession:
VCV000044306.12
Variation ID:
44306
Description:
single nucleotide variant
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NM_001943.5(DSG2):c.266A>G (p.Tyr89Cys)

Allele ID
53473
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q12.1
Genomic location
18: 31520852 (GRCh38) GRCh38 UCSC
18: 29100815 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
Q14126:p.Tyr89Cys
LRG_397:g.27611A>G
LRG_397t1:c.266A>G
... more HGVS
Protein change
Y89C
Other names
-
Canonical SPDI
NC_000018.10:31520851:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00379 (G)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00105
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00349
The Genome Aggregation Database (gnomAD) 0.00369
The Genome Aggregation Database (gnomAD), exomes 0.00095
1000 Genomes Project 0.00379
Trans-Omics for Precision Medicine (TOPMed) 0.00428
Links
ClinGen: CA021861
UniProtKB: Q14126#VAR_048508
dbSNP: rs2230232
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 5 criteria provided, multiple submitters, no conflicts Jun 24, 2013 RCV000037292.6
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Nov 28, 2020 RCV000472203.7
Benign 3 criteria provided, multiple submitters, no conflicts Jul 2, 2018 RCV000770542.3
Likely benign 1 criteria provided, single submitter Aug 23, 2020 RCV001285329.1
Benign 1 criteria provided, single submitter Mar 3, 2015 RCV001682731.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DSG2 Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
638 1094

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jun 24, 2013)
criteria provided, single submitter
Method: research
not specified
Allele origin: unknown
Biesecker Lab/Clinical Genomics Section,National Institutes of Health
Study: ClinSeq
Accession: SCV000054846.1
Submitted: (Mar 10, 2015)
Comments (2):
The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:23861362 for … (more)
Medical sequencing
Evidence details
Likely benign
(Aug 23, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001471742.1
Submitted: (Dec 11, 2020)
Evidence details
Benign
(Feb 14, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario
Study: Canadian Open Genetics Repository
Accession: SCV000901989.1
Submitted: (Apr 30, 2018)
Evidence details
Benign
(Mar 22, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego
Accession: SCV000995455.1
Submitted: (Jun 12, 2019)
Evidence details
Likely benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Arrhythmogenic right ventricular cardiomyopathy, type 10
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001286849.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jul 02, 2018)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
Color Health, Inc
Accession: SCV000904563.1
Submitted: (Nov 06, 2018)
Evidence details
Benign
(Apr 17, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000060949.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Tyr89Cys in Exon 04 of DSG2: This variant is not expected to have clinical signi ficance because it has been identified in 1.0% (30/2916) of … (more)
Benign
(Nov 28, 2020)
criteria provided, single submitter
Method: clinical testing
Arrhythmogenic right ventricular cardiomyopathy, type 10
Allele origin: germline
Invitae
Accession: SCV000561388.6
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001898139.1
Submitted: (Sep 19, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001970354.1
Submitted: (Sep 21, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001920496.1
Submitted: (Sep 23, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Human Genetics - Radboudumc,Radboudumc
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001957617.1
Submitted: (Sep 30, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs2230232...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 07, 2021