NM_004119.3(FLT3):c.2028C>G (p.Asn676Lys) 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:: RCV000427705.1

Allele description [Variation Report for NM_004119.3(FLT3):c.2028C>G (p.Asn676Lys)]

NM_004119.3(FLT3):c.2028C>G (p.Asn676Lys)

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.2028C>G (p.Asn676Lys)

HGVS:

NC_000013.11:g.28028203G>C
NG_007066.1:g.77366C>G
NM_004119.3:c.2028C>GMANE SELECT
NP_004110.2:p.Asn676Lys
LRG_457:g.77366C>G
NC_000013.10:g.28602340G>C
NR_130706.2:n.2094C>G

Protein change:

N676K

Links:

dbSNP: rs1057519766

NCBI 1000 Genomes Browser:

rs1057519766

Molecular consequence:

NM_004119.3:c.2028C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_130706.2:n.2094C>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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000505106	Database of Curated Mutations (DoCM)	no assertion criteria provided	Likely pathogenic (Dec 26, 2014)	somatic	literature only	PubMed (2) [See all records that cite these PMIDs] 23878140, 24619500 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000505106

Database of Curated Mutations (DoCM)

no assertion criteria provided

Likely pathogenic
(Dec 26, 2014)

somatic

literature only

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Exome sequencing identifies recurring FLT3 N676K mutations in core-binding factor leukemia.

Opatz S, Polzer H, Herold T, Konstandin NP, Ksienzyk B, Zellmeier E, Vosberg S, Graf A, Krebs S, Blum H, Hopfner KP, Kakadia PM, Schneider S, Dufour A, Braess J, Sauerland MC, Berdel WE, Büchner T, Woermann BJ, Hiddemann W, Spiekermann K, Bohlander SK, et al.

Blood. 2013 Sep 5;122(10):1761-9. doi: 10.1182/blood-2013-01-476473. Epub 2013 Jul 22.

PubMed [citation]

PMID:: 23878140

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

Details of each submission

From Database of Curated Mutations (DoCM), SCV000505106.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 13, 2023

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