NM_020297.4(ABCC9):c.4512+814C>T AND Atrial fibrillation, familial, 12

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 1, 2007
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000023103.12

Allele description [Variation Report for NM_020297.4(ABCC9):c.4512+814C>T]

NM_020297.4(ABCC9):c.4512+814C>T

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.4512+814C>T

HGVS:

NC_000012.12:g.21805184G>A
NG_012819.1:g.136511C>T
NM_001377273.1:c.4512+814C>T
NM_001377274.1:c.3645+814C>T
NM_005691.4:c.4640C>T
NM_020297.4:c.4512+814C>TMANE SELECT
NP_005682.2:p.Thr1547Ile
LRG_377t1:c.4512+814C>T
LRG_377t2:c.4640C>T
LRG_377:g.136511C>T
NC_000012.11:g.21958118G>A
NM_005691.2:c.4640C>T
NM_020297.2:c.4512+814C>T
O60706:p.Thr1547Ile

Protein change:

T1547I; THR1547ILE

Links:

UniProtKB: O60706#VAR_066210; OMIM: 601439.0003; dbSNP: rs387906805

NCBI 1000 Genomes Browser:

rs387906805

Molecular consequence:

NM_001377273.1:c.4512+814C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001377274.1:c.3645+814C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_020297.4:c.4512+814C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_005691.4:c.4640C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Atrial fibrillation, familial, 12 (ATFB12)
Identifiers:: MONDO: MONDO:0013545; MedGen: C3279695; OMIM: 614050

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000044394	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 2007)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000044394

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 2007)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation.

Olson TM, Alekseev AE, Moreau C, Liu XK, Zingman LV, Miki T, Seino S, Asirvatham SJ, Jahangir A, Terzic A.

Nat Clin Pract Cardiovasc Med. 2007 Feb;4(2):110-6.

PubMed [citation]

PMID:: 17245405
PMCID:: PMC2013306

Details of each submission

From OMIM, SCV000044394.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a 53-year-old white woman with paroxysmal atrial fibrillation (ATFB12; 614050), Olson et al. (2007) identified heterozygosity for a 4640C-T transition in exon 38 of the ABCC9 gene, resulting in a thr1547-to-ile (T1547I) substitution at a conserved residue in the C terminus. The patient's relatives declined clinical or genetic evaluation, but the mutation was not found in 2,000 unrelated and predominantly white controls. Patch-clamp analysis demonstrated that the T1547I mutation compromised adenine nucleotide-dependent induction of K(ATP) current. Mutant SUR2A that was coexpressed with the Kir6.2 (KCNJ11; 600937) pore generated an aberrant channel that retained ATP-induced inhibition of potassium current, but showed a blunted response to ADP. In addition, Kir6.2-knockout mice developed AF in response to adrenergic stimulus, whereas wildtype mice remained in normal sinus rhythm.

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

Last Updated: Sep 8, 2024

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