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NM_002052.5(GATA4):c.1129A>G (p.Ser377Gly)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Sep 8, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000044334.7
Variation ID:
44334
Description:
single nucleotide variant
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NM_002052.5(GATA4):c.1129A>G (p.Ser377Gly)

Allele ID
53501
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8p23.1
Genomic location
8: 11757066 (GRCh38) GRCh38 UCSC
8: 11614575 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P43694:p.Ser377Gly
NC_000008.10:g.11614575A>G
NC_000008.11:g.11757066A>G
... more HGVS
Protein change
S377G, S378G, S171G
Other names
-
Canonical SPDI
NC_000008.11:11757065:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.04293 (G)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.10057
Trans-Omics for Precision Medicine (TOPMed) 0.08186
The Genome Aggregation Database (gnomAD) 0.10632
1000 Genomes Project 0.04293
The Genome Aggregation Database (gnomAD), exomes 0.09520
Exome Aggregation Consortium (ExAC) 0.09621
Links
ClinGen: CA133993
UniProtKB: P43694#VAR_038196
dbSNP: rs3729856
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, single submitter Dec 13, 2016 RCV000037322.5
Benign 1 criteria provided, single submitter Jun 23, 2015 RCV000620305.1
Benign 1 criteria provided, single submitter Dec 4, 2020 RCV001517975.1
Conflicting interpretations of pathogenicity 2 no assertion criteria provided Sep 11, 2018 RCV000128527.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GATA4 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh37
314 427

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Dec 13, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000060979.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
p.Ser377Gly in exon 6 of GATA4: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus … (more)
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Atrioventricular septal defect 4
Allele origin: germline
Invitae
Accession: SCV001726593.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jun 23, 2015)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000735049.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
probable-pathogenic
(-)
no assertion criteria provided
Method: not provided
not provided
Allele origin: not provided
Molecular Genetics and Enzymology, National Research Centre
Accession: SCV000172172.1
Submitted: (Jul 08, 2014)
Comment:
Ventricular and atrial septal defects, and pulmonary stenosis
Evidence details
Comment:
Converted during submission to Likely pathogenic.
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: unknown
Department of Pathology and Laboratory Medicine,Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001551693.1
Submitted: (Mar 31, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Genome Diagnostics Laboratory, Amsterdam University Medical Center
Study: VKGL Data-share Consensus
Accession: SCV001807583.1
Submitted: (Aug 24, 2021)
Evidence details
Benign
(Sep 11, 2018)
no assertion criteria provided
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001839278.1
Submitted: (Sep 08, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 30229885, 28541271, 23626780, 28161810, 27064867)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs3729856...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 12, 2021