NM_032638.5(GATA2):c.707T>C (p.Met236Thr) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Mar 20, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000984847.1

Allele description [Variation Report for NM_032638.5(GATA2):c.707T>C (p.Met236Thr)]

NM_032638.5(GATA2):c.707T>C (p.Met236Thr)

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.707T>C (p.Met236Thr)
HGVS:
  • NC_000003.12:g.128485891A>G
  • NG_029334.1:g.12297T>C
  • NM_001145661.2:c.707T>C
  • NM_001145662.1:c.707T>C
  • NM_032638.4:c.707T>C
  • NM_032638.5:c.707T>CMANE SELECT
  • NP_001139133.1:p.Met236Thr
  • NP_001139134.1:p.Met236Thr
  • NP_116027.2:p.Met236Thr
  • NP_116027.2:p.Met236Thr
  • LRG_295t1:c.707T>C
  • LRG_295t2:c.707T>C
  • LRG_295:g.12297T>C
  • LRG_295p2:p.Met236Thr
  • NC_000003.11:g.128204734A>G
  • NM_001145661.1:c.707T>C
Protein change:
M236T
Links:
dbSNP: rs61754578
NCBI 1000 Genomes Browser:
rs61754578
Molecular consequence:
  • NM_001145661.2:c.707T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145662.1:c.707T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032638.4:c.707T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032638.5:c.707T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001132737PreventionGenetics,PreventionGeneticscriteria provided, single submitter
Uncertain significance
(Mar 20, 2019)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics,PreventionGenetics, SCV001132737.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2021

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