NM_002052.5(GATA4):c.1129A>G (p.Ser377Gly) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Benign(1);Likely pathogenic(1) (Last evaluated: Sep 11, 2018)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000128527.2

Allele description [Variation Report for NM_002052.5(GATA4):c.1129A>G (p.Ser377Gly)]

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

Gene:
GATA4:GATA binding protein 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p23.1
Genomic location:
Preferred name:
NM_002052.5(GATA4):c.1129A>G (p.Ser377Gly)
HGVS:
  • NC_000008.11:g.11757066A>G
  • NG_008177.2:g.85148A>G
  • NM_001308093.1:c.1132A>G
  • NM_001308094.2:c.511A>G
  • NM_002052.5:c.1129A>G
  • NP_001295022.1:p.Ser378Gly
  • NP_001295023.1:p.Ser171Gly
  • 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:
S171G
Links:
UniProtKB: P43694#VAR_038196; dbSNP: rs3729856
NCBI 1000 Genomes Browser:
rs3729856
Molecular consequence:
  • NM_001308093.1:c.1132A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001308094.2:c.511A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002052.5:c.1129A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000172172Molecular Genetics and Enzymology, National Research Centreno assertion criteria providedprobable-pathogenicnot providednot provided

SCV001839278GeneDxno assertion criteria provided
Benign
(Sep 11, 2018)
germlineclinical testing

Citation Link

Description

Ventricular and atrial septal defects, and pulmonary stenosis

SCV000172172

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Molecular Genetics and Enzymology, National Research Centre, SCV000172172.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

From GeneDx, SCV001839278.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is associated with the following publications: (PMID: 30229885, 28541271, 23626780, 28161810, 27064867)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 12, 2021

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