NM_002052.4(GATA4):c.617-116T>C 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:
RCV000498657.1

Allele description [Variation Report for NM_002052.4(GATA4):c.617-116T>C]

NM_002052.4(GATA4):c.617-116T>C

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.617-116T>C
HGVS:
  • NC_000008.11:g.11748803T>C
  • NG_008177.2:g.76885T>C
  • NM_002052.4:c.617-116T>C
  • NC_000008.10:g.11606312T>C
Links:
dbSNP: rs3735819
NCBI 1000 Genomes Browser:
rs3735819
Molecular consequence:
  • NM_002052.4:c.617-116T>C - intron variant - [Sequence Ontology: SO:0001627]
Observations:
60

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
SCV000590806Central 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.76885T>C, leads to the formation of ISE SRp40 binding motif.

SCV000590806

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Indianunknownyes60not 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, SCV000590806.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Indian60not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided60not providednot providednot provided

Last Updated: Mar 30, 2019

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