NM_000335.5(SCN5A):c.559A>G (p.Thr187Ala) AND Cardiac arrest

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 30, 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:: RCV000208056.1

Allele description [Variation Report for NM_000335.5(SCN5A):c.559A>G (p.Thr187Ala)]

NM_000335.5(SCN5A):c.559A>G (p.Thr187Ala)

Gene:

SCN5A:sodium voltage-gated channel alpha subunit 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000335.5(SCN5A):c.559A>G (p.Thr187Ala)

HGVS:

NC_000003.12:g.38620895T>C
NG_008934.1:g.33778A>G
NM_000335.5:c.559A>GMANE SELECT
NM_001099404.2:c.559A>G
NM_001099405.2:c.559A>G
NM_001160160.2:c.559A>G
NM_001160161.2:c.559A>G
NM_001354701.2:c.559A>G
NM_198056.3:c.559A>G
NP_000326.2:p.Thr187Ala
NP_001092874.1:p.Thr187Ala
NP_001092875.1:p.Thr187Ala
NP_001153632.1:p.Thr187Ala
NP_001153633.1:p.Thr187Ala
NP_001341630.1:p.Thr187Ala
NP_932173.1:p.Thr187Ala
NP_932173.1:p.Thr187Ala
LRG_289t1:c.559A>G
LRG_289:g.33778A>G
LRG_289p1:p.Thr187Ala
NC_000003.11:g.38662386T>C
NM_198056.2:c.559A>G

Protein change:

T187A

Links:

dbSNP: rs869025517

NCBI 1000 Genomes Browser:

rs869025517

Molecular consequence:

NM_000335.5:c.559A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001099404.2:c.559A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001099405.2:c.559A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001160160.2:c.559A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001160161.2:c.559A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354701.2:c.559A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198056.3:c.559A>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
SCV000264200	Blueprint Genetics	criteria provided, single submitter (Variant Classification)	Uncertain significance (Sep 30, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000264200

Blueprint Genetics

criteria provided, single submitter

(Variant Classification)

Uncertain significance
(Sep 30, 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, SCV000264200.2

#	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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