NM_020297.4(ABCC9):c.2599G>A (p.Val867Ile) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 21, 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:: RCV004022837.1

Allele description [Variation Report for NM_020297.4(ABCC9):c.2599G>A (p.Val867Ile)]

NM_020297.4(ABCC9):c.2599G>A (p.Val867Ile)

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.2599G>A (p.Val867Ile)

HGVS:

NC_000012.12:g.21852412C>T
NG_012819.1:g.89283G>A
NM_001377273.1:c.2599G>A
NM_001377274.1:c.1732G>A
NM_005691.2:c.2599G>A
NM_005691.4:c.2599G>A
NM_020297.4:c.2599G>AMANE SELECT
NP_001364202.1:p.Val867Ile
NP_001364203.1:p.Val578Ile
NP_005682.2:p.Val867Ile
NP_005682.2:p.Val867Ile
NP_064693.2:p.Val867Ile
LRG_377t2:c.2599G>A
LRG_377:g.89283G>A
NC_000012.11:g.22005346C>T
NM_005691.3:c.2599G>A
NM_020297.2:c.2599G>A

Protein change:

V578I

Links:

dbSNP: rs376754153

NCBI 1000 Genomes Browser:

rs376754153

Molecular consequence:

NM_001377273.1:c.2599G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377274.1:c.1732G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005691.4:c.2599G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020297.4:c.2599G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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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
SCV005023081	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 21, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005023081

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 21, 2023)

germline

clinical testing

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

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

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F, Tayal U, Buchan RJ, Midwinter W, Wilk A, Whiffin N, Govind R, Mazaika E, de Marvao A, Dawes TJW, Felkin LE, Ahmad M, Theotokis PI, Edwards E, Ing AY, Thomson KL, Chan LLH, Sim D, Baksi AJ, Pantazis A, Roberts AM, Watkins H, et al.

Circulation. 2020 Feb 4;141(5):387-398. doi: 10.1161/CIRCULATIONAHA.119.037661. Epub 2020 Jan 27.

PubMed [citation]

PMID:: 31983221
PMCID:: PMC7004454

Details of each submission

From Ambry Genetics, SCV005023081.1

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

Description

The p.V867I variant (also known as c.2599G>A), located in coding exon 21 of the ABCC9 gene, results from a G to A substitution at nucleotide position 2599. The valine at codon 867 is replaced by isoleucine, an amino acid with highly similar properties. This alteration has been reported in a dilated cardiomyopathy (DCM) cohort (Mazzarotto F et al. Circulation, 2020 Feb;141:387-398). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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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