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

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Jan 20, 2005
Accession:
VCV000014001.1
Variation ID:
14001
Description:
4bp insertion
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NM_002520.6(NPM1):c.863_864insCCTG (p.Trp288fs)

Allele ID
29040
Variant type
Insertion
Variant length
4 bp
Cytogenetic location
5q35.1
Genomic location
5: 171410540-171410541 (GRCh38) GRCh38 UCSC
5: 170837544-170837545 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.171410543_171410544insCCTG
NC_000005.9:g.170837547_170837548insCCTG
NM_001355006.1:c.863_864insCCTG NP_001341935.1:p.Trp288fs frameshift
... more HGVS
Protein change
W161fs, W288fs, W224fs, W259fs
Other names
-
Canonical SPDI
NC_000005.10:171410540:CTG:CTGCCTG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA280202
OMIM: 164040.0004
dbSNP: rs1554138189
VarSome
Comment on variant
NCBI staff reviewed the sequence information reported in PubMed 15659725 Fig. 4 to determine the location of this allele on the current reference sequence.
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Jan 20, 2005 RCV000015038.26
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NPM1 - - GRCh38
GRCh37
31 49

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 20, 2005)
no assertion criteria provided
Method: literature only
LEUKEMIA, ACUTE MYELOID, SOMATIC
Allele origin: somatic
OMIM
Accession: SCV000035294.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype. Falini B The New England journal of medicine 2005 PMID: 15659725

Text-mined citations for rs1554138189...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jul 24, 2021