NM_001943.5(DSG2):c.2188A>G (p.Thr730Ala) AND Cardiac arrest

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 2, 2015
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:: RCV000208434.1

Allele description [Variation Report for NM_001943.5(DSG2):c.2188A>G (p.Thr730Ala)]

NM_001943.5(DSG2):c.2188A>G (p.Thr730Ala)

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.2188A>G (p.Thr730Ala)

HGVS:

NC_000018.10:g.31542706A>G
NG_007072.3:g.49465A>G
NM_001943.5:c.2188A>GMANE SELECT
NP_001934.2:p.Thr730Ala
LRG_397t1:c.2188A>G
LRG_397:g.49465A>G
NC_000018.9:g.29122669A>G
NM_001943.3:c.2188A>G
NM_001943.4:c.2188A>G

Protein change:

T730A

Links:

dbSNP: rs780650226

NCBI 1000 Genomes Browser:

rs780650226

Molecular consequence:

NM_001943.5:c.2188A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Cardiac arrest
Identifiers:: MONDO: MONDO:0000745; MedGen: C0018790; Human Phenotype Ontology: HP:0001695

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000263856	Blueprint Genetics	criteria provided, single submitter (Variant Classification)	Uncertain significance (Feb 2, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000263856

Blueprint Genetics

criteria provided, single submitter

(Variant Classification)

Uncertain significance
(Feb 2, 2015)

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	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Blueprint Genetics, SCV000263856.2

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

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

Last Updated: Sep 29, 2024

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