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NM_004119.3(FLT3):c.2504A>T (p.Asp835Val) AND Acute lymphoid leukemia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 2004
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:
RCV000017661.5

Allele description [Variation Report for NM_004119.3(FLT3):c.2504A>T (p.Asp835Val)]

NM_004119.3(FLT3):c.2504A>T (p.Asp835Val)

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>T (p.Asp835Val)
HGVS:
  • NC_000013.11:g.28018504T>A
  • NG_007066.1:g.87065A>T
  • NM_004119.3:c.2504A>TMANE SELECT
  • NP_004110.2:p.Asp835Val
  • LRG_457:g.87065A>T
  • NC_000013.10:g.28592641T>A
  • NR_130706.2:n.2702A>T
  • P36888:p.Asp835Val
Protein change:
D835V; ASP835VAL
Links:
UniProtKB: P36888#VAR_065682; OMIM: 136351.0003; dbSNP: rs121909646
NCBI 1000 Genomes Browser:
rs121909646
Molecular consequence:
  • NM_004119.3:c.2504A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_130706.2:n.2702A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Acute lymphoid leukemia (ALL)
Synonyms:
Acute lymphoblastic leukemia; Leukemia, acute lymphoblastic, somatic; Lymphoblastic leukemia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0004967; MedGen: C0023449; Orphanet: 513; OMIM: 613065; Human Phenotype Ontology: HP:0006721

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000037938OMIM
no assertion criteria provided
Pathogenic
(May 1, 2004) 		somaticliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Activating mutation of D835 within the activation loop of FLT3 in human hematologic malignancies.

Yamamoto Y, Kiyoi H, Nakano Y, Suzuki R, Kodera Y, Miyawaki S, Asou N, Kuriyama K, Yagasaki F, Shimazaki C, Akiyama H, Saito K, Nishimura M, Motoji T, Shinagawa K, Takeshita A, Saito H, Ueda R, Ohno R, Naoe T.

Blood. 2001 Apr 15;97(8):2434-9.

PubMed [citation]
PMID:
11290608

FLT3 mutations in childhood acute lymphoblastic leukemia.

Armstrong SA, Mabon ME, Silverman LB, Li A, Gribben JG, Fox EA, Sallan SE, Korsmeyer SJ.

Blood. 2004 May 1;103(9):3544-6. Epub 2003 Dec 11.

PubMed [citation]
PMID:
14670924

Details of each submission

From OMIM, SCV000037938.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In tumor cells from 5 patients with acute myeloid leukemia (601626), Yamamoto et al. (2001) found an A-to-T transversion in the FLT3 gene that resulted in an asp835-to-val (D835V) mutation.

In blast cells from a case of childhood hyperdiploid acute lymphoblastic leukemia (613065), Armstrong et al. (2004) identified a somatic D835V mutation. Complete clinical remission was achieved.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 13, 2023