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NM_001308093.3(GATA4):c.840C>A (p.Thr280=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 16, 2022
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:
RCV002434798.2

Allele description [Variation Report for NM_001308093.3(GATA4):c.840C>A (p.Thr280=)]

NM_001308093.3(GATA4):c.840C>A (p.Thr280=)

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.840C>A (p.Thr280=)
HGVS:
  • NC_000008.11:g.11750164C>A
  • NG_008177.2:g.78246C>A
  • NM_001308093.3:c.840C>AMANE SELECT
  • NM_001308094.2:c.219C>A
  • NM_001374273.1:c.219C>A
  • NM_001374274.1:c.165+1079C>A
  • NM_002052.5:c.837C>A
  • NP_001295022.1:p.Thr280=
  • NP_001295023.1:p.Thr73=
  • NP_001361202.1:p.Thr73=
  • NP_002043.2:p.Thr279=
  • NC_000008.10:g.11607673C>A
  • NM_002052.3:c.837C>A
Molecular consequence:
  • NM_001374274.1:c.165+1079C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001308093.3:c.840C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001308094.2:c.219C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374273.1:c.219C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_002052.5:c.837C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002677880Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Sep 16, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002677880.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 1, 2024