NM_002052.4(GATA4):c.997+200G>A AND Congenital heart disease

Clinical significance:Pathogenic (Last evaluated: Jan 7, 2017)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000498356.1

Allele description [Variation Report for NM_002052.4(GATA4):c.997+200G>A]

NM_002052.4(GATA4):c.997+200G>A

Gene:
GATA4:GATA binding protein 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p23.1
Genomic location:
Preferred name:
NM_002052.4(GATA4):c.997+200G>A
HGVS:
  • NC_000008.11:g.11755333G>A
  • NG_008177.2:g.83415G>A
  • NM_002052.4:c.997+200G>A
  • NC_000008.10:g.11612842G>A
Links:
dbSNP: rs3729851
NCBI 1000 Genomes Browser:
rs3729851
Molecular consequence:
  • NM_002052.4:c.997+200G>A - intron variant - [Sequence Ontology: SO:0001627]
Observations:
3

Condition(s)

Name:
Congenital heart disease (CHD)
Identifiers:
MedGen: C0152021

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000590811Central Research Laboratory,Sri Devaraj Urs Academy of Higher Education and Researchno assertion criteria providedPathogenic
(Jan 7, 2017)
unknownclinical testing

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

Description

This variant, NG_008177.2:g.83415G>A, leads to the disruption of SF2/ASF2 ISE binding motif and also formation of SRp40 ISE binding motif and ISS binding motif 3.

SCV000590811

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Indianunknownyes3not providednot providednot providednot providedclinical testing

Citations

PubMed

Congenital heart diseases and their association with the variant distribution features on susceptibility genes.

Su W, Zhu P, Wang R, Wu Q, Wang M, Zhang X, Mei L, Tang J, Kumar M, Wang X, Su L, Dong N.

Clin Genet. 2017 Mar;91(3):349-354. doi: 10.1111/cge.12835. Epub 2016 Sep 5. Review.

PubMed [citation]
PMID:
27426723

Details of each submission

From Central Research Laboratory,Sri Devaraj Urs Academy of Higher Education and Research, SCV000590811.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Indian3not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Mar 30, 2019

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