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NM_001308093.3(GATA4):c.357CGC[5] (p.Ala126dup) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 20, 2018
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:
RCV002453267.2

Allele description [Variation Report for NM_001308093.3(GATA4):c.357CGC[5] (p.Ala126dup)]

NM_001308093.3(GATA4):c.357CGC[5] (p.Ala126dup)

Gene:
GATA4:GATA binding protein 4 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
8p23.1
Genomic location:
Preferred name:
NM_001308093.3(GATA4):c.357CGC[5] (p.Ala126dup)
HGVS:
  • NC_000008.11:g.11708669CGC[5]
  • NG_008177.2:g.36751CGC[5]
  • NM_001308093.3:c.357CGC[5]MANE SELECT
  • NM_001308094.2:c.-6+7889GCC[5]
  • NM_001374273.1:c.-3+4363GCC[5]
  • NM_001374274.1:c.-3+653GCC[5]
  • NM_002052.5:c.357CGC[5]
  • NP_001295022.1:p.Ala126dup
  • NP_002043.2:p.Ala126dup
  • NC_000008.10:g.11566175_11566176insGCC
  • NC_000008.10:g.11566178CGC[5]
  • NM_001308093.1:c.366_368dup
  • NM_002052.3:c.366_368dup
  • NM_002052.3:c.366_368dupCGC
  • NM_002052.5:c.366_368dup
Note:
ClinGen staff contributed the HGVS expression for this variant.
Links:
OMIM: 600576.0012; dbSNP: rs1182566703
NCBI 1000 Genomes Browser:
rs1182566703
Molecular consequence:
  • NM_001308093.3:c.357CGC[5] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_002052.5:c.357CGC[5] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001308094.2:c.-6+7889GCC[5] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374273.1:c.-3+4363GCC[5] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374274.1:c.-3+653GCC[5] - intron variant - [Sequence Ontology: SO:0001627]

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
SCV002613487Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 20, 2018) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

GATA4 mutations in 486 Chinese patients with congenital heart disease.

Zhang W, Li X, Shen A, Jiao W, Guan X, Li Z.

Eur J Med Genet. 2008 Nov-Dec;51(6):527-35. doi: 10.1016/j.ejmg.2008.06.005. Epub 2008 Jul 11.

PubMed [citation]
PMID:
18672102

Details of each submission

From Ambry Genetics, SCV002613487.2

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

Description

The c.366_368dupCGC variant (also known as p.A126dup), located in coding exon 1 of the GATA4 gene, results from an in-frame duplication of CGC at nucleotide positions 366 to 368. This results in the duplication of an extra alanine residue between codons 126 and 127. This variant (reported as 118-119insA) has been detected in a congenital heart defect cohort, but also in controls (Zhang W et al. Eur J Med Genet Jul;51:527-35). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024