NM_032638.5(GATA2):c.829A>G (p.Ser277Gly) AND not provided

Clinical significance:Uncertain significance (Last evaluated: May 1, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001200274.2

Allele description [Variation Report for NM_032638.5(GATA2):c.829A>G (p.Ser277Gly)]

NM_032638.5(GATA2):c.829A>G (p.Ser277Gly)

Gene:
GATA2:GATA binding protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q21.3
Genomic location:
Preferred name:
NM_032638.5(GATA2):c.829A>G (p.Ser277Gly)
HGVS:
  • NC_000003.12:g.128485769T>C
  • NG_029334.1:g.12419A>G
  • NM_001145661.2:c.829A>G
  • NM_001145662.1:c.829A>G
  • NM_032638.4:c.829A>G
  • NM_032638.5:c.829A>GMANE SELECT
  • NP_001139133.1:p.Ser277Gly
  • NP_001139134.1:p.Ser277Gly
  • NP_116027.2:p.Ser277Gly
  • NP_116027.2:p.Ser277Gly
  • LRG_295t2:c.829A>G
  • LRG_295:g.12419A>G
  • LRG_295p2:p.Ser277Gly
  • NC_000003.11:g.128204612T>C
Protein change:
S277G
Links:
dbSNP: rs141800945
NCBI 1000 Genomes Browser:
rs141800945
Molecular consequence:
  • NM_001145661.2:c.829A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145662.1:c.829A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032638.4:c.829A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032638.5:c.829A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001371187CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(May 1, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001371187.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Nov 20, 2021

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