NM_001943.5(DSG2):c.2137_2138delinsAC (p.Glu713Thr) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 30, 2020
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:: RCV002417864.2

Allele description [Variation Report for NM_001943.5(DSG2):c.2137_2138delinsAC (p.Glu713Thr)]

NM_001943.5(DSG2):c.2137_2138delinsAC (p.Glu713Thr)

Genes:

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

Variant type:

Indel

Cytogenetic location:

18q12.1

Genomic location:

Preferred name:

NM_001943.5(DSG2):c.2137_2138delinsAC (p.Glu713Thr)

HGVS:

NC_000018.10:g.31542655_31542656delinsAC
NG_007072.3:g.49414_49415delinsAC
NM_001943.5:c.2137_2138delinsACMANE SELECT
NP_001934.2:p.Glu713Thr
NP_001934.2:p.Glu713Thr
LRG_397t1:c.2137_2138delGAinsAC
LRG_397:g.49414_49415delinsAC
LRG_397p1:p.Glu713Thr
NC_000018.9:g.29122618_29122619delinsAC
NM_001943.3:c.2137_2138delGAinsAC

Protein change:

E713T

Molecular consequence:

NM_001943.5:c.2137_2138delinsAC - 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
SCV002729073	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 30, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002729073

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 30, 2020)

germline

clinical testing

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

Details of each submission

From Ambry Genetics, SCV002729073.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.2137_2138delGAinsAC variant (also known as p.E713T), located in coding exon 14 of the DSG2 gene, results from an in-frame deletion of GA and insertion of AC at nucleotide positions 2137 to 2138. This results in the substitution of the glutamic acid residue for a threonine residue at codon 713, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: May 1, 2024

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