NM_001308093.3(GATA4):c.1000+56C>A AND Congenital heart disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 7, 2017
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:: RCV000497379.1

Allele description [Variation Report for NM_001308093.3(GATA4):c.1000+56C>A]

NM_001308093.3(GATA4):c.1000+56C>A

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.1000+56C>A

HGVS:

NC_000008.11:g.11755189C>A
NG_008177.2:g.83271C>A
NM_001308093.3:c.1000+56C>AMANE SELECT
NM_001308094.2:c.379+56C>A
NM_001374273.1:c.379+56C>A
NM_001374274.1:c.253+56C>A
NM_002052.4:c.997+56C>A
NM_002052.5:c.997+56C>A
NC_000008.10:g.11612698C>A
NM_002052.3:c.997+56C>A

Links:

dbSNP: rs804280

NCBI 1000 Genomes Browser:

rs804280

Molecular consequence:

NM_001308093.3:c.1000+56C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001308094.2:c.379+56C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001374273.1:c.379+56C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001374274.1:c.253+56C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_002052.5:c.997+56C>A - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Name:: Congenital heart disease (CHD)
Identifiers:: MONDO: MONDO:0005453; MedGen: C0152021

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000590804	Central Research Laboratory, Sri Devaraj Urs Academy of Higher Education and Research	no assertion criteria provided	Pathogenic (Jan 7, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000590804

Central Research Laboratory, Sri Devaraj Urs Academy of Higher Education and Research

no assertion criteria provided

Pathogenic
(Jan 7, 2017)

unknown

clinical testing

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

Description

This variant, NG_008177.2:g.83271C>A, leads to disruption of branch point site and formation of ISS motif 2.: SCV000590804

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Indian	unknown	yes	58	not provided	not provided	not provided	not provided	clinical 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, SCV000590804.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Indian	58	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		58	not provided	not provided	not provided

Last Updated: Mar 16, 2024

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