NM_001943.5(DSG2):c.2033G>C (p.Gly678Ala) AND Cardiovascular phenotype

Germline classification:: Likely benign (1 submission)
Last evaluated:: Mar 13, 2024
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002415655.2

Allele description [Variation Report for NM_001943.5(DSG2):c.2033G>C (p.Gly678Ala)]

NM_001943.5(DSG2):c.2033G>C (p.Gly678Ala)

Genes:

DSG2-AS1:DSG2 antisense RNA 1 [Gene - HGNC]
DSG2:desmoglein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q12.1

Genomic location:

Preferred name:

NM_001943.5(DSG2):c.2033G>C (p.Gly678Ala)

HGVS:

NC_000018.10:g.31542551G>C
NG_007072.3:g.49310G>C
NM_001943.5:c.2033G>CMANE SELECT
NP_001934.2:p.Gly678Ala
LRG_397t1:c.2033G>C
LRG_397:g.49310G>C
NC_000018.9:g.29122514G>C
NM_001943.3:c.2033G>C
NM_001943.4:c.2033G>C

Protein change:

G678A

Links:

dbSNP: rs372494397

NCBI 1000 Genomes Browser:

rs372494397

Molecular consequence:

NM_001943.5:c.2033G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002722997	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Mar 13, 2024)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 24070718, 26138720, 26656175, 29899727, 32102357 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002722997

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Mar 13, 2024)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy.

Rigato I, Bauce B, Rampazzo A, Zorzi A, Pilichou K, Mazzotti E, Migliore F, Marra MP, Lorenzon A, De Bortoli M, Calore M, Nava A, Daliento L, Gregori D, Iliceto S, Thiene G, Basso C, Corrado D.

Circ Cardiovasc Genet. 2013 Dec;6(6):533-42. doi: 10.1161/CIRCGENETICS.113.000288. Epub 2013 Sep 26.

PubMed [citation]

PMID:: 24070718

Phenotypic expression is a prerequisite for malignant arrhythmic events and sudden cardiac death in arrhythmogenic right ventricular cardiomyopathy.

Zorzi A, Rigato I, Pilichou K, Perazzolo Marra M, Migliore F, Mazzotti E, Gregori D, Thiene G, Daliento L, Iliceto S, Rampazzo A, Basso C, Bauce B, Corrado D.

Europace. 2016 Jul;18(7):1086-94. doi: 10.1093/europace/euv205. Epub 2015 Jul 2.

PubMed [citation]

PMID:: 26138720

See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV002722997.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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