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NM_001002295.2(GATA3):c.701dup (p.Ser237fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 2019
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:
RCV000761715.22

Allele description [Variation Report for NM_001002295.2(GATA3):c.701dup (p.Ser237fs)]

NM_001002295.2(GATA3):c.701dup (p.Ser237fs)

Gene:
GATA3:GATA binding protein 3 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
10p14
Genomic location:
Preferred name:
NM_001002295.2(GATA3):c.701dup (p.Ser237fs)
HGVS:
  • NC_000010.11:g.8058764dup
  • NG_015859.1:g.9061dup
  • NM_001002295.2:c.701dupMANE SELECT
  • NM_002051.3:c.701dup
  • NP_001002295.1:p.Ser237fs
  • NP_002042.1:p.Ser237fs
  • NC_000010.10:g.8100727dup
Protein change:
S237fs
Links:
dbSNP: rs1564399278
NCBI 1000 Genomes Browser:
rs1564399278
Molecular consequence:
  • NM_001002295.2:c.701dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002051.3:c.701dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
4

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000891900CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Pathogenic
(Oct 1, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes4not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV000891900.26

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided4not providednot providednot provided

Last Updated: Aug 4, 2024