NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly) AND Neonatal insulin-dependent diabetes mellitus

Germline classification:: Uncertain significance (1 submission)
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:: RCV002463624.8

Allele description [Variation Report for NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly)]

NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly)

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.1132A>G (p.Ser378Gly)

HGVS:

NC_000008.11:g.11757066A>G
NG_008177.2:g.85148A>G
NM_001308093.3:c.1132A>GMANE SELECT
NM_001308094.2:c.511A>G
NM_001374273.1:c.511A>G
NM_001374274.1:c.385A>G
NM_002052.5:c.1129A>G
NP_001295022.1:p.Ser378Gly
NP_001295023.1:p.Ser171Gly
NP_001361202.1:p.Ser171Gly
NP_001361203.1:p.Ser129Gly
NP_002043.2:p.Ser377Gly
NC_000008.10:g.11614575A>G
NM_002052.3:c.1129A>G
P43694:p.Ser377Gly
c.1129A>G

Protein change:

S129G

Links:

UniProtKB: P43694#VAR_038196; dbSNP: rs3729856

NCBI 1000 Genomes Browser:

rs3729856

Molecular consequence:

NM_001308093.3:c.1132A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001308094.2:c.511A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374273.1:c.511A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374274.1:c.385A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002052.5:c.1129A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Neonatal insulin-dependent diabetes mellitus
Identifiers:: MedGen: C3278636; Human Phenotype Ontology: HP:0000857

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002605214	Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	criteria provided, single submitter (K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)	Uncertain significance	unknown	research	PubMed (4) [See all records that cite these PMIDs] 20854389, 24696446, 33865372, 27810688 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002605214

Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

criteria provided, single submitter

(K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)

Uncertain significance

unknown

research

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Genetic investigation in an Italian child with an unusual association of atrial septal defect, attributable to a new familial GATA4 gene mutation, and neonatal diabetes due to pancreatic agenesis.

D'Amato E, Giacopelli F, Giannattasio A, D'Annunzio G, Bocciardi R, Musso M, Lorini R, Ravazzolo R.

Diabet Med. 2010 Oct;27(10):1195-200. doi: 10.1111/j.1464-5491.2010.03046.x.

PubMed [citation]

PMID:: 20854389

GATA4 mutations are a cause of neonatal and childhood-onset diabetes.

Shaw-Smith C, De Franco E, Lango Allen H, Batlle M, Flanagan SE, Borowiec M, Taplin CE, van Alfen-van der Velden J, Cruz-Rojo J, Perez de Nanclares G, Miedzybrodzka Z, Deja G, Wlodarska I, Mlynarski W, Ferrer J, Hattersley AT, Ellard S.

Diabetes. 2014 Aug;63(8):2888-94. doi: 10.2337/db14-0061. Epub 2014 Apr 2.

PubMed [citation]

PMID:: 24696446
PMCID:: PMC6850908

See all PubMed Citations (4)

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV002605214.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	research	PubMed (4)

Description

Potent mutations in GATA4 gene are associated with neonatal diabetes, decreased insulin production due to pancreatic aplasia or hypoplasia. Also associated with isolated cardiac abnormalities in children, like atrial septal defects. However no sufficient evidence is found to ascertain the role of this particular variant rs3729856 yet.

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

Last Updated: Sep 16, 2024

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