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NM_002520.7(NPM1):c.862_863insTCTG (p.Trp288fs) AND Acute myeloid leukemia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 2, 2014
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:
RCV000437921.1

Allele description [Variation Report for NM_002520.7(NPM1):c.862_863insTCTG (p.Trp288fs)]

NM_002520.7(NPM1):c.862_863insTCTG (p.Trp288fs)

Gene:
NPM1:nucleophosmin 1 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
5q35.1
Genomic location:
Preferred name:
NM_002520.7(NPM1):c.862_863insTCTG (p.Trp288fs)
HGVS:
  • NC_000005.10:g.171410542_171410543insTCTG
  • NG_016018.1:g.27839_27840insTCTG
  • NM_001355006.2:c.862_863insTCTG
  • NM_001355007.2:c.670_671insTCTG
  • NM_001355010.2:c.481_482insTCTG
  • NM_002520.7:c.862_863insTCTGMANE SELECT
  • NM_199185.4:c.775_776insTCTG
  • 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_458:g.27839_27840insTCTG
  • NC_000005.9:g.170837546_170837547insTCTG
  • NR_149149.2:n.834_835insTCTG
Protein change:
W161fs
Links:
dbSNP: rs1057519744
NCBI 1000 Genomes Browser:
rs1057519744
Molecular consequence:
  • NM_001355006.2:c.862_863insTCTG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001355007.2:c.670_671insTCTG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001355010.2:c.481_482insTCTG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002520.7:c.862_863insTCTG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_199185.4:c.775_776insTCTG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_149149.2:n.834_835insTCTG - 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
SCV000504651Database of Curated Mutations (DoCM)
no assertion criteria provided
Likely pathogenic
(Oct 2, 2014) 		somaticliterature only

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Recurring mutations found by sequencing an acute myeloid leukemia genome.

Mardis ER, Ding L, Dooling DJ, Larson DE, McLellan MD, Chen K, Koboldt DC, Fulton RS, Delehaunty KD, McGrath SD, Fulton LA, Locke DP, Magrini VJ, Abbott RM, Vickery TL, Reed JS, Robinson JS, Wylie T, Smith SM, Carmichael L, Eldred JM, Harris CC, et al.

N Engl J Med. 2009 Sep 10;361(11):1058-66. doi: 10.1056/NEJMoa0903840. Epub 2009 Aug 5.

PubMed [citation]
PMID:
19657110
PMCID:
PMC3201812

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504651.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 13, 2023