NM_002520.6(NPM1):c.863_864insCCTG (p.Trp288fs) AND Acute myeloid leukemia

Clinical significance:Pathogenic (Last evaluated: Jan 20, 2005)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000015038.26

Allele description [Variation Report for NM_002520.6(NPM1):c.863_864insCCTG (p.Trp288fs)]

NM_002520.6(NPM1):c.863_864insCCTG (p.Trp288fs)

Gene:
NPM1:nucleophosmin 1 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
5q35.1
Genomic location:
Preferred name:
NM_002520.6(NPM1):c.863_864insCCTG (p.Trp288fs)
HGVS:
  • NC_000005.10:g.171410543_171410544insCCTG
  • NG_016018.1:g.27840_27841insCCTG
  • NM_001355006.1:c.863_864insCCTG
  • NM_001355007.1:c.671_672insCCTG
  • NM_001355010.1:c.482_483insCCTG
  • NM_002520.6:c.863_864insCCTG
  • NM_199185.3:c.776_777insCCTG
  • NP_001341935.1:p.Trp288fs
  • NP_001341936.1:p.Trp224fs
  • NP_001341939.1:p.Trp161fs
  • NP_002511.1:p.Trp288fs
  • NP_954654.1:p.Trp259fs
  • LRG_458t1:c.863_864insCCTG
  • LRG_458:g.27840_27841insCCTG
  • LRG_458p1:p.Trp288fs
  • NC_000005.9:g.170837547_170837548insCCTG
  • NR_149149.1:n.980_981insCCTG
Note:
NCBI staff reviewed the sequence information reported in PubMed 15659725 Fig. 4 to determine the location of this allele on the current reference sequence.
Protein change:
W161fs
Links:
OMIM: 164040.0004; dbSNP: rs1554138189
NCBI 1000 Genomes Browser:
rs1554138189
Molecular consequence:
  • NM_001355006.1:c.863_864insCCTG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001355007.1:c.671_672insCCTG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001355010.1:c.482_483insCCTG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002520.6:c.863_864insCCTG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_199185.3:c.776_777insCCTG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_149149.1:n.980_981insCCTG - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000035294OMIMno assertion criteria providedPathogenic
(Jan 20, 2005)
somaticliterature only

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

Summary from all submissions

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

Citations

PubMed

Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype.

Falini B, Mecucci C, Tiacci E, Alcalay M, Rosati R, Pasqualucci L, La Starza R, Diverio D, Colombo E, Santucci A, Bigerna B, Pacini R, Pucciarini A, Liso A, Vignetti M, Fazi P, Meani N, Pettirossi V, Saglio G, Mandelli F, Lo-Coco F, Pelicci PG, et al.

N Engl J Med. 2005 Jan 20;352(3):254-66. Erratum in: N Engl J Med. 2005 Feb 17;352(7):740.

PubMed [citation]
PMID:
15659725

Details of each submission

From OMIM, SCV000035294.2

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

Description

In 1 of 51 cases of acute myeloid leukemia (601626) with positivity for NPM in the cytoplasm, Falini et al. (2005) identified a 4-bp insertion in exon 12 of the NPM1 gene (960insCCTG), resulting in a shift in the reading frame that was predicted to alter the C-terminal portion of the protein by replacing the last 7 amino acids with 11 different residues. Falini et al. (2005) called this mutation D.

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

Last Updated: Jul 24, 2021

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