NM_001308093.3(GATA4):c.1243G>C (p.Val415Leu) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 7, 2023
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:: RCV004298103.1

Allele description [Variation Report for NM_001308093.3(GATA4):c.1243G>C (p.Val415Leu)]

NM_001308093.3(GATA4):c.1243G>C (p.Val415Leu)

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.1243G>C (p.Val415Leu)

HGVS:

NC_000008.11:g.11758386G>C
NG_008177.2:g.86468G>C
NM_001308093.3:c.1243G>CMANE SELECT
NM_001308094.2:c.622G>C
NM_001374273.1:c.622G>C
NM_001374274.1:c.496G>C
NM_002052.5:c.1240G>C
NP_001295022.1:p.Val415Leu
NP_001295023.1:p.Val208Leu
NP_001361202.1:p.Val208Leu
NP_001361203.1:p.Val166Leu
NP_002043.2:p.Val414Leu
NC_000008.10:g.11615895G>C
NM_002052.3:c.1240G>C

Protein change:

V166L

Molecular consequence:

NM_001308093.3:c.1243G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001308094.2:c.622G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001374273.1:c.622G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001374274.1:c.496G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002052.5:c.1240G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

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Caenorhabditis elegans Organic solute transporter alpha-like protein 3 (osta-3),...
Caenorhabditis elegans Organic solute transporter alpha-like protein 3 (osta-3), partial mRNA
gi|1831509561|ref|NM_001306651.3|

Nucleotide
Guanine nucleotide-binding protein G(s) subunit alpha [Caenorhabditis elegans]
Guanine nucleotide-binding protein G(s) subunit alpha [Caenorhabditis elegans]
gi|1831505212|ref|NP_001368357.1|

Protein
P-S1
P-S1

GEO DataSets
Colorectal cancer, hereditary nonpolyposis, type 7
Colorectal cancer, hereditary nonpolyposis, type 7

MedGen

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003955180	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 7, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003955180

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 7, 2023)

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, SCV003955180.2

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

Description

The c.1240G>C (p.V414L) alteration is located in exon 7 (coding exon 6) of the GATA4 gene. This alteration results from a G to C substitution at nucleotide position 1240, causing the valine (V) at amino acid position 414 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, 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: Nov 10, 2024

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