NM_001308093.3(GATA4):c.1232A>G (p.Tyr411Cys) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 6, 2022
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:: RCV003167941.1

Allele description [Variation Report for NM_001308093.3(GATA4):c.1232A>G (p.Tyr411Cys)]

NM_001308093.3(GATA4):c.1232A>G (p.Tyr411Cys)

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.1232A>G (p.Tyr411Cys)

HGVS:

NC_000008.11:g.11758375A>G
NG_008177.2:g.86457A>G
NM_001308093.3:c.1232A>GMANE SELECT
NM_001308094.2:c.611A>G
NM_001374273.1:c.611A>G
NM_001374274.1:c.485A>G
NM_002052.3:c.1229A>G
NM_002052.5:c.1229A>G
NP_001295022.1:p.Tyr411Cys
NP_001295023.1:p.Tyr204Cys
NP_001361202.1:p.Tyr204Cys
NP_001361203.1:p.Tyr162Cys
NP_002043.2:p.Tyr410Cys
NC_000008.10:g.11615884A>G

Protein change:

Y162C

Molecular consequence:

NM_001308093.3:c.1232A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001308094.2:c.611A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374273.1:c.611A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374274.1:c.485A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002052.5:c.1229A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003855035	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Uncertain significance (Dec 6, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003855035

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Uncertain significance
(Dec 6, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003855035.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.Y410C variant (also known as c.1229A>G), located in coding exon 6 of the GATA4 gene, results from an A to G substitution at nucleotide position 1229. The tyrosine at codon 410 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Feb 14, 2024

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