NM_032638.5(GATA2):c.308C>T (p.Ala103Val) AND Acute myeloid leukemia

Clinical significance:Uncertain significance (Last evaluated: Sep 3, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001256200.1

Allele description [Variation Report for NM_032638.5(GATA2):c.308C>T (p.Ala103Val)]

NM_032638.5(GATA2):c.308C>T (p.Ala103Val)

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.308C>T (p.Ala103Val)
HGVS:
  • NC_000003.12:g.128486290G>A
  • NG_029334.1:g.11898C>T
  • NM_001145661.2:c.308C>T
  • NM_001145662.1:c.308C>T
  • NM_032638.5:c.308C>TMANE SELECT
  • NP_001139133.1:p.Ala103Val
  • NP_001139134.1:p.Ala103Val
  • NP_116027.2:p.Ala103Val
  • LRG_295t2:c.308C>T
  • LRG_295:g.11898C>T
  • NC_000003.11:g.128205133G>A
  • NM_032638.4:c.308C>T
Protein change:
A103V
Molecular consequence:
  • NM_001145661.2:c.308C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145662.1:c.308C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032638.5:c.308C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Acute myeloid leukemia (AML)
Synonyms:
Acute myeloid leukemia, adult; AML adult; Acute myelogenous leukemia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018874; MeSH: D015470; MedGen: C0023467; Orphanet: 519; OMIM: 601626; Human Phenotype Ontology: HP:0004808

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001432807Malcovati Lab, University of Paviacriteria provided, single submitter
Uncertain significance
(Sep 3, 2020)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedresearch

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 Malcovati Lab, University of Pavia, SCV001432807.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 20, 2021

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