NM_020297.4(ABCC9):c.4512+711G>A AND Cardiovascular phenotype

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 10, 2023
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:: RCV003307898.3

Allele description [Variation Report for NM_020297.4(ABCC9):c.4512+711G>A]

NM_020297.4(ABCC9):c.4512+711G>A

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+711G>A

HGVS:

NC_000012.12:g.21805287C>T
NG_012819.1:g.136408G>A
NM_001377273.1:c.4512+711G>A
NM_001377274.1:c.3645+711G>A
NM_005691.2:c.4537G>A
NM_005691.4:c.4537G>A
NM_020297.4:c.4512+711G>AMANE SELECT
NP_005682.2:p.Ala1513Thr
NP_005682.2:p.Ala1513Thr
LRG_377t2:c.4537G>A
LRG_377:g.136408G>A
NC_000012.11:g.21958221C>T
NM_005691.3:c.4537G>A

Protein change:

A1513T

Links:

dbSNP: rs72559751

NCBI 1000 Genomes Browser:

rs72559751

Molecular consequence:

NM_001377273.1:c.4512+711G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001377274.1:c.3645+711G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_020297.4:c.4512+711G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_005691.4:c.4537G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Homo sapiens BCL6 gene, intron 1 region of hypermutation
Homo sapiens BCL6 gene, intron 1 region of hypermutation
gi|6273348|gb|AF191831.1|AF191831

Nucleotide
Rattus norvegicus mitogen-activated protein kinase kinase kinase 8 (Map3k8), mRN...
Rattus norvegicus mitogen-activated protein kinase kinase kinase 8 (Map3k8), mRNA
gi|1937370101|ref|NM_053847.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003993364	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Apr 10, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 15034580, 34076677 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003993364

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Apr 10, 2023)

germline

clinical testing

PubMed (2)
[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 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating.

Bienengraeber M, Olson TM, Selivanov VA, Kathmann EC, O'Cochlain F, Gao F, Karger AB, Ballew JD, Hodgson DM, Zingman LV, Pang YP, Alekseev AE, Terzic A.

Nat Genet. 2004 Apr;36(4):382-7. Epub 2004 Mar 21.

PubMed [citation]

PMID:: 15034580
PMCID:: PMC1995438

Genetic Variants Associated With Unexplained Sudden Cardiac Death in Adult White and African American Individuals.

Guo L, Torii S, Fernandez R, Braumann RE, Fuller DT, Paek KH, Gadhoke NV, Maloney KA, Harris K, Mayhew CM, Zarpak R, Stevens LM, Gaynor BJ, Jinnouchi H, Sakamoto A, Sato Y, Mori H, Kutyna MD, Lee PJ, Weinstein LM, Collado-Rivera CJ, Ali BB, et al.

JAMA Cardiol. 2021 Sep 1;6(9):1013-1022. doi: 10.1001/jamacardio.2021.1573. Erratum in: JAMA Cardiol. 2021 Sep 1;6(9):1098. doi: 10.1001/jamacardio.2021.2394.

PubMed [citation]

PMID:: 34076677
PMCID:: PMC8173469

Details of each submission

From Ambry Genetics, SCV003993364.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	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: Oct 20, 2024

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