NM_001308093.3(GATA4):c.889G>T (p.Gly297Cys) AND Atrial septal defect 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 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:: RCV000023001.3

Allele description [Variation Report for NM_001308093.3(GATA4):c.889G>T (p.Gly297Cys)]

NM_001308093.3(GATA4):c.889G>T (p.Gly297Cys)

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>T (p.Gly297Cys)

HGVS:

NC_000008.11:g.11750213G>T
NG_008177.2:g.78295G>T
NM_001308093.3:c.889G>TMANE SELECT
NM_001308094.2:c.268G>T
NM_001374273.1:c.268G>T
NM_001374274.1:c.165+1128G>T
NM_002052.5:c.886G>T
NP_001295022.1:p.Gly297Cys
NP_001295023.1:p.Gly90Cys
NP_001361202.1:p.Gly90Cys
NP_002043.2:p.Gly296Cys
NC_000008.10:g.11607722G>T
P43694:p.Gly296Cys

Protein change:

G296C; GLY296CYS

Links:

UniProtKB: P43694#VAR_067612; OMIM: 600576.0006; dbSNP: rs104894073

NCBI 1000 Genomes Browser:

rs104894073

Molecular consequence:

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

Condition(s)

Name:: Atrial septal defect 2 (ASD2)
Identifiers:: MONDO: MONDO:0011938; MedGen: C1842778; Orphanet: 1478; OMIM: 607941

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
SCV000044292	OMIM	no assertion criteria provided	Pathogenic (Dec 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

SCV000044292

OMIM

no assertion criteria provided

Pathogenic
(Dec 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

Spectrum of heart disease associated with murine and human GATA4 mutation.

Rajagopal SK, Ma Q, Obler D, Shen J, Manichaikul A, Tomita-Mitchell A, Boardman K, Briggs C, Garg V, Srivastava D, Goldmuntz E, Broman KW, Benson DW, Smoot LB, Pu WT.

J Mol Cell Cardiol. 2007 Dec;43(6):677-85. Epub 2007 Jun 21.

PubMed [citation]

PMID:: 17643447
PMCID:: PMC2573470

Details of each submission

From OMIM, SCV000044292.2

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

Description

In a proband with a secundum atrial septal defect (ASD2; 607941) and pulmonary stenosis, Rajagopal et al. (2007) identified heterozygosity for an 886G-T transversion in the GATA4 gene, resulting in a gly296-to-cys (G296C) substitution at a highly conserved residue in the C-terminal domain. The mutation was not found in 500 control chromosomes, 246 of which were ethnically matched. The proband's father, who had persistent left superior vena cava to coronary sinus connection, was found to carry the mutation. The proband also had a sister with secundum ASD, but her DNA was unavailable for testing.

#	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

ClinVar

Relating variation to medicine