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NM_001308093.3(GATA4):c.1116A>G (p.Ser372=) AND not specified

Germline classification:
Benign (2 submissions)
Last evaluated:
May 28, 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:
RCV001796730.2

Allele description [Variation Report for NM_001308093.3(GATA4):c.1116A>G (p.Ser372=)]

NM_001308093.3(GATA4):c.1116A>G (p.Ser372=)

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.1116A>G (p.Ser372=)
HGVS:
  • NC_000008.11:g.11757050A>G
  • NG_008177.2:g.85132A>G
  • NM_001308093.3:c.1116A>GMANE SELECT
  • NM_001308094.2:c.495A>G
  • NM_001374273.1:c.495A>G
  • NM_001374274.1:c.369A>G
  • NM_002052.4:c.1113A>G
  • NM_002052.5:c.1113A>G
  • NP_001295022.1:p.Ser372=
  • NP_001295023.1:p.Ser165=
  • NP_001361202.1:p.Ser165=
  • NP_001361203.1:p.Ser123=
  • NP_002043.2:p.Ser371=
  • NC_000008.10:g.11614559A>G
  • NM_002052.3:c.1113A>G
Links:
dbSNP: rs112435835
NCBI 1000 Genomes Browser:
rs112435835
Molecular consequence:
  • NM_001308093.3:c.1116A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001308094.2:c.495A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374273.1:c.495A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374274.1:c.369A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_002052.5:c.1113A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002037996Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Benigngermlineclinical testing

SCV003934814Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Benign
(May 28, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV002037996.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003934814.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024