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NM_001308093.3(GATA4):c.889G>A (p.Gly297Ser) AND Atrial septal defect 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 24, 2003
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:
RCV000009596.2

Allele description [Variation Report for NM_001308093.3(GATA4):c.889G>A (p.Gly297Ser)]

NM_001308093.3(GATA4):c.889G>A (p.Gly297Ser)

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>A (p.Gly297Ser)
HGVS:
  • NC_000008.11:g.11750213G>A
  • NG_008177.2:g.78295G>A
  • NM_001308093.3:c.889G>AMANE SELECT
  • NM_001308094.2:c.268G>A
  • NM_001374273.1:c.268G>A
  • NM_001374274.1:c.165+1128G>A
  • NM_002052.5:c.886G>A
  • NP_001295022.1:p.Gly297Ser
  • NP_001295023.1:p.Gly90Ser
  • NP_001361202.1:p.Gly90Ser
  • NP_002043.2:p.Gly296Ser
  • NC_000008.10:g.11607722G>A
  • P43694:p.Gly296Ser
Protein change:
G296S; GLY296SER
Links:
UniProtKB: P43694#VAR_016204; OMIM: 600576.0001; dbSNP: rs104894073
NCBI 1000 Genomes Browser:
rs104894073
Molecular consequence:
  • NM_001374274.1:c.165+1128G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001308093.3:c.889G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001308094.2:c.268G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374273.1:c.268G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002052.5:c.886G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000029814OMIM
no assertion criteria provided
Pathogenic
(Jul 24, 2003) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5.

Garg V, Kathiriya IS, Barnes R, Schluterman MK, King IN, Butler CA, Rothrock CR, Eapen RS, Hirayama-Yamada K, Joo K, Matsuoka R, Cohen JC, Srivastava D.

Nature. 2003 Jul 24;424(6947):443-7. Epub 2003 Jul 6.

PubMed [citation]
PMID:
12845333

Details of each submission

From OMIM, SCV000029814.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 5-generation pedigree segregating autosomal dominant congenital heart defects, with all affected individuals manifesting atrial septal defect (607941), Garg et al. (2003) identified a G-to-A transition at nucleotide 886 of the GATA4 gene. This resulted in a gly-to-ser substitution at codon 296 (G296S). Eight of the 16 affected individuals had other congenital heart defects including ventricular septal defects, atrioventricular septal defects, pulmonary valve thickening, or insufficiency of cardiac valves. Neither the cardiac conduction system nor other organs were affected in this kindred. All affected individuals carried the mutation. None of the unaffected family members carried the mutation, nor was it identified in 3,000 unrelated individuals of diverse ethnicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 17, 2024