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NM_001002295.2(GATA3):c.681dup (p.Glu228fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 2, 2016
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:
RCV000316770.1

Allele description [Variation Report for NM_001002295.2(GATA3):c.681dup (p.Glu228fs)]

NM_001002295.2(GATA3):c.681dup (p.Glu228fs)

Gene:
GATA3:GATA binding protein 3 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
10p14
Genomic location:
Preferred name:
NM_001002295.2(GATA3):c.681dup (p.Glu228fs)
HGVS:
  • NC_000010.11:g.8058744dup
  • NG_015859.1:g.9041dup
  • NM_001002295.2:c.681dupMANE SELECT
  • NM_002051.3:c.681dup
  • NP_001002295.1:p.Glu228fs
  • NP_002042.1:p.Glu228fs
  • NC_000010.10:g.8100707dup
  • NM_001002295.1:c.681dupC
Protein change:
E228fs
Links:
dbSNP: rs1554794901
NCBI 1000 Genomes Browser:
rs1554794901
Molecular consequence:
  • NM_001002295.2:c.681dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002051.3:c.681dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000330586GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jun 2, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000330586.6

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

Description

The c.681dupC variant in the GATA3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.681dupC variant causes a frameshift starting with codon Glutamic Acid 228, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 76 of the new reading frame, denoted p.Glu228ArgfsX76. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.681dupC variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.681dupC as a pathogenic variant.

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

Last Updated: Apr 23, 2022