NM_004119.3(FLT3):c.2506A>T (p.Ile836Phe) AND Acute myeloid leukemia

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 13, 2016
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:: RCV000417837.1

Allele description [Variation Report for NM_004119.3(FLT3):c.2506A>T (p.Ile836Phe)]

NM_004119.3(FLT3):c.2506A>T (p.Ile836Phe)

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.2506A>T (p.Ile836Phe)

HGVS:

NC_000013.11:g.28018502T>A
NG_007066.1:g.87067A>T
NM_004119.3:c.2506A>TMANE SELECT
NP_004110.2:p.Ile836Phe
LRG_457:g.87067A>T
NC_000013.10:g.28592639T>A
NR_130706.2:n.2704A>T

Protein change:

I836F

Links:

dbSNP: rs1057519726

NCBI 1000 Genomes Browser:

rs1057519726

Molecular consequence:

NM_004119.3:c.2506A>T - missense variant - [Sequence Ontology: SO:0001583]
NR_130706.2:n.2704A>T - 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
SCV000510444	Database of Curated Mutations (DoCM)	no assertion criteria provided	Likely pathogenic (May 13, 2016)	somatic	literature only	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000510444

Database of Curated Mutations (DoCM)

no assertion criteria provided

Likely pathogenic
(May 13, 2016)

somatic

literature only

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

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

Novel observation of three FLT3 codons mutated in tandem in an elderly acute myeloid leukaemia patient.

Mills KI, Walsh V, Gilkes AF, Agrawal SG, Knapper S.

Br J Haematol. 2006 Jan;132(1):116-7. No abstract available. Erratum in: Br J Haematol. 2006 Mar;132(5):663. Knapperb, S [corrected to Kanpper, S].

PubMed [citation]

PMID:: 16371029

Details of each submission

From Database of Curated Mutations (DoCM), SCV000510444.1

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

#	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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