NM_020297.4(ABCC9):c.4205C>G (p.Ser1402Cys) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 21, 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:: RCV002332505.2

Allele description [Variation Report for NM_020297.4(ABCC9):c.4205C>G (p.Ser1402Cys)]

NM_020297.4(ABCC9):c.4205C>G (p.Ser1402Cys)

Gene:

ABCC9:ATP binding cassette subfamily C member 9 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p12.1

Genomic location:

Preferred name:

NM_020297.4(ABCC9):c.4205C>G (p.Ser1402Cys)

HGVS:

NC_000012.12:g.21812055G>C
NG_012819.1:g.129640C>G
NM_001377273.1:c.4205C>G
NM_001377274.1:c.3338C>G
NM_005691.4:c.4205C>G
NM_020297.4:c.4205C>GMANE SELECT
NP_001364202.1:p.Ser1402Cys
NP_001364203.1:p.Ser1113Cys
NP_005682.2:p.Ser1402Cys
NP_005682.2:p.Ser1402Cys
NP_064693.2:p.Ser1402Cys
LRG_377t2:c.4205C>G
LRG_377:g.129640C>G
NC_000012.11:g.21964989G>C
NM_005691.2:c.4205C>G
NM_005691.3:c.4205C>G

Protein change:

S1113C

Links:

dbSNP: rs369587958

NCBI 1000 Genomes Browser:

rs369587958

Molecular consequence:

NM_001377273.1:c.4205C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377274.1:c.3338C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_005691.4:c.4205C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_020297.4:c.4205C>G - 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
SCV002630675	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 21, 2020)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 24439875, 30662450, 30821013 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002630675

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 21, 2020)

germline

clinical testing

PubMed (3)
[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

ABCC9 is a novel Brugada and early repolarization syndrome susceptibility gene.

Hu D, Barajas-Martínez H, Terzic A, Park S, Pfeiffer R, Burashnikov E, Wu Y, Borggrefe M, Veltmann C, Schimpf R, Cai JJ, Nam GB, Deshmukh P, Scheinman M, Preminger M, Steinberg J, López-Izquierdo A, Ponce-Balbuena D, Wolpert C, Haïssaguerre M, Sánchez-Chapula JA, Antzelevitch C.

Int J Cardiol. 2014 Feb 15;171(3):431-42. doi: 10.1016/j.ijcard.2013.12.084. Epub 2014 Jan 4.

PubMed [citation]

PMID:: 24439875
PMCID:: PMC3947869

Impact of Ancestral Differences and Reassessment of the Classification of Previously Reported Pathogenic Variants in Patients With Brugada Syndrome in the Genomic Era: A SADS-TW BrS Registry.

Chen CJ, Lu TP, Lin LY, Liu YB, Ho LT, Huang HC, Lai LP, Hwang JJ, Yeh SS, Wu CK, Juang JJ, Antzelevitch C.

Front Genet. 2018;9:680. doi: 10.3389/fgene.2018.00680.

PubMed [citation]

PMID:: 30662450
PMCID:: PMC6328444

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV002630675.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

The p.S1402C variant (also known as c.4205C>G), located in coding exon 34 of the ABCC9 gene, results from a C to G substitution at nucleotide position 4205. The serine at codon 1402 is replaced by cysteine, an amino acid with dissimilar properties. This variant was reported in an individual with Brugada syndrome, who also had an SCN5A pathogenic mutation identified; family studies detected the ABCC9 variant in his father with early repolarization findings and the SCN5A mutation in his mother with long QT syndrome and Brugada syndrome (Hu D et al. Int. J. Cardiol., 2014 Feb;171:431-42). Limited patch clamp studies indicate that this alteration may impact channel function, but the clinical impact of these findings is unknown (Hu D et al. Int. J. Cardiol., 2014 Feb;171:431-42). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. 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: Sep 29, 2024

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