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NM_004119.3(FLT3):c.2504A>C (p.Asp835Ala) AND Acute myeloid leukemia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 2, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000444069.1

Allele description [Variation Report for NM_004119.3(FLT3):c.2504A>C (p.Asp835Ala)]

NM_004119.3(FLT3):c.2504A>C (p.Asp835Ala)

Gene:
FLT3:fms related receptor tyrosine kinase 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.2
Genomic location:
Preferred name:
NM_004119.3(FLT3):c.2504A>C (p.Asp835Ala)
HGVS:
  • NC_000013.11:g.28018504T>G
  • NG_007066.1:g.87065A>C
  • NM_004119.3:c.2504A>CMANE SELECT
  • NP_004110.2:p.Asp835Ala
  • LRG_457:g.87065A>C
  • NC_000013.10:g.28592641T>G
  • NR_130706.2:n.2702A>C
Protein change:
D835A
Links:
dbSNP: rs121909646
NCBI 1000 Genomes Browser:
rs121909646
Molecular consequence:
  • NM_004119.3:c.2504A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_130706.2:n.2702A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000504506Database of Curated Mutations (DoCM)
no assertion criteria provided
Pathogenic
(Oct 2, 2014) 		somaticliterature only

PubMed (10)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Sorafenib treatment of FLT3-ITD(+) acute myeloid leukemia: favorable initial outcome and mechanisms of subsequent nonresponsiveness associated with the emergence of a D835 mutation.

Man CH, Fung TK, Ho C, Han HH, Chow HC, Ma AC, Choi WW, Lok S, Cheung AM, Eaves C, Kwong YL, Leung AY.

Blood. 2012 May 31;119(22):5133-43. doi: 10.1182/blood-2011-06-363960. Epub 2012 Feb 24.

PubMed [citation]
PMID:
22368270

Mutational landscape of AML with normal cytogenetics: biological and clinical implications.

Martelli MP, Sportoletti P, Tiacci E, Martelli MF, Falini B.

Blood Rev. 2013 Jan;27(1):13-22. doi: 10.1016/j.blre.2012.11.001. Epub 2012 Dec 20. Review.

PubMed [citation]
PMID:
23261068
See all PubMed Citations (10)

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504506.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (10)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 13, 2023