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NM_001308093.3(GATA4):c.62G>T (p.Gly21Val) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 3, 2017
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:
RCV000621988.2

Allele description [Variation Report for NM_001308093.3(GATA4):c.62G>T (p.Gly21Val)]

NM_001308093.3(GATA4):c.62G>T (p.Gly21Val)

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.62G>T (p.Gly21Val)
HGVS:
  • NC_000008.11:g.11708374G>T
  • NG_008177.2:g.36456G>T
  • NM_001308093.3:c.62G>TMANE SELECT
  • NM_001308094.2:c.-6+7596G>T
  • NM_001374273.1:c.-3+4070G>T
  • NM_001374274.1:c.-3+360G>T
  • NM_002052.5:c.62G>T
  • NP_001295022.1:p.Gly21Val
  • NP_002043.2:p.Gly21Val
  • NC_000008.10:g.11565883G>T
  • NM_002052.3:c.62G>T
Protein change:
G21V
Links:
dbSNP: rs202213149
NCBI 1000 Genomes Browser:
rs202213149
Molecular consequence:
  • NM_001308094.2:c.-6+7596G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374273.1:c.-3+4070G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374274.1:c.-3+360G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001308093.3:c.62G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002052.5:c.62G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000736467Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Nov 3, 2017) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Involvement of a novel GATA4 mutation in atrial septal defects.

Liu XY, Wang J, Zheng JH, Bai K, Liu ZM, Wang XZ, Liu X, Fang WY, Yang YQ.

Int J Mol Med. 2011 Jul;28(1):17-23. doi: 10.3892/ijmm.2011.638. Epub 2011 Mar 3.

PubMed [citation]
PMID:
21373748

Details of each submission

From Ambry Genetics, SCV000736467.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.G21V variant (also known as c.62G>T), located in coding exon 1 of the GATA4 gene, results from a G to T substitution at nucleotide position 62. The glycine at codon 21 is replaced by valine, an amino acid with dissimilar properties. This alteration has been reported to segregate with atrial septal defect in two apparently unrelated families, and luciferase assay suggested that this alteration would result in reduced transcriptional activity in the experimental system (Liu XY et al. Int. J. Mol. Med., 2011 Jul;28:17-23). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023