NM_032638.5(GATA2):c.1083_1085dup (p.Arg362dup) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Oct 23, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001547703.2

Allele description [Variation Report for NM_032638.5(GATA2):c.1083_1085dup (p.Arg362dup)]

NM_032638.5(GATA2):c.1083_1085dup (p.Arg362dup)

Gene:
GATA2:GATA binding protein 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
3q21.3
Genomic location:
Preferred name:
NM_032638.5(GATA2):c.1083_1085dup (p.Arg362dup)
HGVS:
  • NC_000003.12:g.128481879_128481881dup
  • NG_029334.1:g.16309_16311dup
  • NM_001145661.2:c.1083_1085dup
  • NM_001145662.1:c.1041_1043dup
  • NM_032638.5:c.1083_1085dupMANE SELECT
  • NP_001139133.1:p.Arg362dup
  • NP_001139134.1:p.Arg348dup
  • NP_116027.2:p.Arg362dup
  • LRG_295t2:c.1083_1085dup
  • LRG_295:g.16309_16311dup
  • NC_000003.11:g.128200719_128200720insCGG
  • NC_000003.11:g.128200722_128200724dup
  • NM_032638.4:c.1083_1085dup
  • NM_032638.4:c.1083_1085dupCCG
Links:
dbSNP: rs2068634140
NCBI 1000 Genomes Browser:
rs2068634140
Molecular consequence:
  • NM_001145661.2:c.1083_1085dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001145662.1:c.1041_1043dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_032638.5:c.1083_1085dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001767472GeneDxcriteria provided, single submitter
Likely pathogenic
(Oct 23, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001767472.1

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

Description

Not observed in large population cohorts (Lek 2016); In-frame insertion of 1 amino acid in a non-repeat region; This variant is associated with the following publications: (PMID: 32554555, 23560626)

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

Last Updated: Dec 9, 2021

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