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NM_002520.7(NPM1):c.860_863dup (p.Trp288fs) AND Acute myeloid leukemia

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jan 20, 2005
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:
RCV000015035.24

Allele description [Variation Report for NM_002520.7(NPM1):c.860_863dup (p.Trp288fs)]

NM_002520.7(NPM1):c.860_863dup (p.Trp288fs)

Gene:
NPM1:nucleophosmin 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
5q35.1
Genomic location:
Preferred name:
NM_002520.7(NPM1):c.860_863dup (p.Trp288fs)
HGVS:
  • NC_000005.10:g.171410540_171410543dup
  • NG_016018.1:g.27837_27840dup
  • NM_001355006.2:c.860_863dup
  • NM_001355007.2:c.668_671dup
  • NM_001355010.2:c.479_482dup
  • NM_002520.7:c.860_863dupMANE SELECT
  • NM_199185.4:c.773_776dup
  • 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.860_863dup
  • LRG_458:g.27837_27840dup
  • NC_000005.9:g.170837544_170837547dup
  • NM_002520.6:c.860_863dupTCTG
  • NR_149149.2:n.832_835dup
  • p.W288Cfs*12
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: 164040.0001; dbSNP: rs587776806
NCBI 1000 Genomes Browser:
rs587776806
Molecular consequence:
  • NM_001355006.2:c.860_863dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001355007.2:c.668_671dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001355010.2:c.479_482dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002520.7:c.860_863dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_199185.4:c.773_776dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_149149.2:n.832_835dup - 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
SCV000035291OMIM
no assertion criteria provided
Pathogenic
(Jan 20, 2005) 		somaticliterature only

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

SCV001162247NIHR Bioresource Rare Diseases, University of Cambridge
no assertion criteria provided
Pathogenicunknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot providednot providednot providednot providednot providednot providedliterature only
not providedunknownyes1not providednot provided1not providedresearch

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

Whole-genome sequencing of patients with rare diseases in a national health system.

Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, et al.

Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24.

PubMed [citation]
PMID:
32581362
PMCID:
PMC7610553

Details of each submission

From OMIM, SCV000035291.2

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

Description

In 40 of 51 cases of acute myeloid leukemia (601626) with positivity for NPM in the cytoplasm, Falini et al. (2005) identified a 4-bp duplication in exon 12 of the NPM1 gene (956dupTCTG), 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, which was the most frequent of those identified, mutation A.

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

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV001162247.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Feb 13, 2023