NM_001308093.3(GATA4):c.802G>A (p.Val268Met) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 26, 2016
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:: RCV000621642.3

Allele description [Variation Report for NM_001308093.3(GATA4):c.802G>A (p.Val268Met)]

NM_001308093.3(GATA4):c.802G>A (p.Val268Met)

Gene:

GATA4:GATA binding protein 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p23.1

Genomic location:

Preferred name:

NM_001308093.3(GATA4):c.802G>A (p.Val268Met)

HGVS:

NC_000008.11:g.11750126G>A
NG_008177.2:g.78208G>A
NM_001308093.3:c.802G>AMANE SELECT
NM_001308094.2:c.181G>A
NM_001374273.1:c.181G>A
NM_001374274.1:c.165+1041G>A
NM_002052.5:c.799G>A
NP_001295022.1:p.Val268Met
NP_001295023.1:p.Val61Met
NP_001361202.1:p.Val61Met
NP_002043.2:p.Val267Met
NC_000008.10:g.11607635G>A
NM_002052.3:c.799G>A

Protein change:

V267M

Links:

dbSNP: rs116781972

NCBI 1000 Genomes Browser:

rs116781972

Molecular consequence:

NM_001374274.1:c.165+1041G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001308093.3:c.802G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001308094.2:c.181G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374273.1:c.181G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002052.5:c.799G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000736321	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 26, 2016)	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

SCV000736321

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 26, 2016)

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

Identification of functional mutations in GATA4 in patients with congenital heart disease.

Wang E, Sun S, Qiao B, Duan W, Huang G, An Y, Xu S, Zheng Y, Su Z, Gu X, Jin L, Wang H.

PLoS One. 2013 Apr 23;8(4):e62138. doi: 10.1371/journal.pone.0062138. Print 2013.

PubMed [citation]

PMID:: 23626780
PMCID:: PMC3633926

Details of each submission

From Ambry Genetics, SCV000736321.5

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

Description

The p.V267M variant (also known as c.799G>A), located in coding exon 3 of the GATA4 gene, results from a G to A substitution at nucleotide position 799. The valine at codon 267 is replaced by methionine, an amino acid with highly similar properties. In a study of 384 sporadic Chinese patients with congenital heart disease, this alteration was reported in 2 patients and also in 4 of the 957 controls (Wang E et al. PLoS ONE, 2013 Apr;8:e62138). This variant was previously reported in the SNPDatabase as rs116781972. Based on data from ExAC, the A allele was only reported in East Asian population with a frequency of approximately 0.034% (3/8618). Based on data from the 1000 Genomes Project, the A allele has an overall frequency of approximately 0.05% (1/2098) total alleles studied. The highest observed frequency was 0.54% (1/184) Southern Han Chinese alleles. This amino acid position is highly 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

ClinVar

Relating variation to medicine