NM_001308093.3(GATA4):c.889G>C (p.Gly297Arg) AND Ventricular septal defect 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 1, 2011
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:: RCV000023011.6

Allele description [Variation Report for NM_001308093.3(GATA4):c.889G>C (p.Gly297Arg)]

NM_001308093.3(GATA4):c.889G>C (p.Gly297Arg)

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.889G>C (p.Gly297Arg)

HGVS:

NC_000008.11:g.11750213G>C
NG_008177.2:g.78295G>C
NM_001308093.3:c.889G>CMANE SELECT
NM_001308094.2:c.268G>C
NM_001374273.1:c.268G>C
NM_001374274.1:c.165+1128G>C
NM_002052.5:c.886G>C
NP_001295022.1:p.Gly297Arg
NP_001295023.1:p.Gly90Arg
NP_001361202.1:p.Gly90Arg
NP_002043.2:p.Gly296Arg
NC_000008.10:g.11607722G>C
P43694:p.Gly296Arg

Protein change:

G296R; GLY296ARG

Links:

UniProtKB: P43694#VAR_067613; OMIM: 600576.0014; dbSNP: rs104894073

NCBI 1000 Genomes Browser:

rs104894073

Molecular consequence:

NM_001374274.1:c.165+1128G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001308093.3:c.889G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001308094.2:c.268G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001374273.1:c.268G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002052.5:c.886G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Ventricular septal defect 1 (VSD1)
Identifiers:: MONDO: MONDO:0013746; MedGen: C3280777; OMIM: 614429

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000044302	OMIM	no assertion criteria provided	Pathogenic (Oct 1, 2011)	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

SCV000044302

OMIM

no assertion criteria provided

Pathogenic
(Oct 1, 2011)

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

A novel GATA4 mutation responsible for congenital ventricular septal defects.

Wang J, Fang M, Liu XY, Xin YF, Liu ZM, Chen XZ, Wang XZ, Fang WY, Liu X, Yang YQ.

Int J Mol Med. 2011 Oct;28(4):557-64. doi: 10.3892/ijmm.2011.715. Epub 2011 Jun 1.

PubMed [citation]

PMID:: 21637914

Details of each submission

From OMIM, SCV000044302.3

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

Description

In a 5-year-old Chinese girl with ventricular septal defect (VSD1; 614429), Wang et al. (2011) identified heterozygosity for a 886G-C transversion in the GATA4 gene, resulting in a gly296-to-arg (G296R) substitution at a highly conserved residue. Her affected father and paternal aunt also carried the mutation; none of the 3 had atrioventricular conduction defects. Her father had atrial septal defect (ASD) in addition to VSD, and her deceased paternal grandfather had ASD, pulmonary stenosis, and atrioventricular block. The mutation was not found in 200 ethnically matched controls. Transfection studies in COS-7 cells with the G296R mutant demonstrated significantly reduced activation of a direct cardiac downstream target gene, ANP (NPPA; 108780), compared to wildtype GATA4.

#	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: Apr 23, 2022

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