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NM_004119.3(FLT3):c.2026A>G (p.Asn676Asp) AND Acute myeloid leukemia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 26, 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:
RCV000443164.1

Allele description [Variation Report for NM_004119.3(FLT3):c.2026A>G (p.Asn676Asp)]

NM_004119.3(FLT3):c.2026A>G (p.Asn676Asp)

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.2026A>G (p.Asn676Asp)
HGVS:
  • NC_000013.11:g.28028205T>C
  • NG_007066.1:g.77364A>G
  • NM_004119.3:c.2026A>GMANE SELECT
  • NP_004110.2:p.Asn676Asp
  • LRG_457:g.77364A>G
  • NC_000013.10:g.28602342T>C
  • NR_130706.2:n.2092A>G
Protein change:
N676D
Links:
dbSNP: rs1057519767
NCBI 1000 Genomes Browser:
rs1057519767
Molecular consequence:
  • NM_004119.3:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_130706.2:n.2092A>G - 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
SCV000505108Database of Curated Mutations (DoCM)
no assertion criteria provided
Likely pathogenic
(Dec 26, 2014) 		somaticliterature only

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Reversal of acquired drug resistance in FLT3-mutated acute myeloid leukemia cells via distinct drug combination strategies.

Zhang W, Gao C, Konopleva M, Chen Y, Jacamo RO, Borthakur G, Cortes JE, Ravandi F, Ramachandran A, Andreeff M.

Clin Cancer Res. 2014 May 1;20(9):2363-74. doi: 10.1158/1078-0432.CCR-13-2052. Epub 2014 Mar 11.

PubMed [citation]
PMID:
24619500
PMCID:
PMC4073635

Validation of ITD mutations in FLT3 as a therapeutic target in human acute myeloid leukaemia.

Smith CC, Wang Q, Chin CS, Salerno S, Damon LE, Levis MJ, Perl AE, Travers KJ, Wang S, Hunt JP, Zarrinkar PP, Schadt EE, Kasarskis A, Kuriyan J, Shah NP.

Nature. 2012 Apr 15;485(7397):260-3. doi: 10.1038/nature11016.

PubMed [citation]
PMID:
22504184
PMCID:
PMC3390926
See all PubMed Citations (3)

Details of each submission

From Database of Curated Mutations (DoCM), SCV000505108.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 13, 2023