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NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile) AND Neuroblastoma, susceptibility to, 1

Germline classification:
risk factor (1 submission)
Last evaluated:
Apr 1, 2008
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:
RCV000004923.11

Allele description [Variation Report for NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile)]

NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile)

Gene:
KIF1B:kinesin family member 1B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.22
Genomic location:
Preferred name:
NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile)
HGVS:
  • NC_000001.11:g.10324838C>T
  • NG_008069.1:g.119133C>T
  • NM_001365951.3:c.2618C>TMANE SELECT
  • NM_001365952.1:c.2618C>T
  • NM_015074.3:c.2480C>T
  • NP_001352880.1:p.Thr873Ile
  • NP_001352881.1:p.Thr873Ile
  • NP_055889.2:p.Thr827Ile
  • LRG_252t1:c.2480C>T
  • LRG_252t2:c.2618C>T
  • LRG_252:g.119133C>T
  • LRG_252p1:p.Thr827Ile
  • LRG_252p2:p.Thr873Ile
  • NC_000001.10:g.10384896C>T
Protein change:
T827I; THR827ILE
Links:
OMIM: 605995.0003; dbSNP: rs121908162
NCBI 1000 Genomes Browser:
rs121908162
Molecular consequence:
  • NM_001365951.3:c.2618C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365952.1:c.2618C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015074.3:c.2480C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neuroblastoma, susceptibility to, 1
Synonyms:
Neuroblastoma 1
Identifiers:
MONDO: MONDO:0009741; MedGen: C2749485; OMIM: 256700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000025099OMIM
no assertion criteria provided
risk factor
(Apr 1, 2008) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor.

Schlisio S, Kenchappa RS, Vredeveld LC, George RE, Stewart R, Greulich H, Shahriari K, Nguyen NV, Pigny P, Dahia PL, Pomeroy SL, Maris JM, Look AT, Meyerson M, Peeper DS, Carter BD, Kaelin WG Jr.

Genes Dev. 2008 Apr 1;22(7):884-93. doi: 10.1101/gad.1648608. Epub 2008 Mar 11.

PubMed [citation]
PMID:
18334619
PMCID:
PMC2279200

Details of each submission

From OMIM, SCV000025099.2

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

Description

In a neuroblastoma (256700) tumor sample and in germline DNA from the corresponding patient, Schlisio et al. (2008) identified a C-T transition in exon 24 of the KIF1B gene, resulting in a thr827-to-ile (T827I) substitution. The wildtype allele was retained in the tumor sample; no amplification of MYCN (164840) was present, but low-level (2-fold) amplification of the mutant allele was detected.

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

Last Updated: Oct 20, 2024