NM_001365951.3(KIF1B):c.3423-15del AND Neuroblastoma

Clinical significance:Likely benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000283128.2

Allele description [Variation Report for NM_001365951.3(KIF1B):c.3423-15del]

NM_001365951.3(KIF1B):c.3423-15del

Gene:
KIF1B:kinesin family member 1B [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p36.22
Genomic location:
Preferred name:
NM_001365951.3(KIF1B):c.3423-15del
HGVS:
  • NC_000001.11:g.10339754del
  • NG_008069.1:g.134049del
  • NM_001365951.3:c.3423-15delMANE SELECT
  • NM_001365952.1:c.3423-15del
  • NM_015074.3:c.3285-15del
  • LRG_252t1:c.3285-15del
  • LRG_252t2:c.3423-15del
  • LRG_252:g.134049del
  • NC_000001.10:g.10399812del
  • NC_000001.10:g.10399812delA
  • NM_015074.3:c.3285-15delA
Links:
dbSNP: rs3215996
NCBI 1000 Genomes Browser:
rs3215996
Molecular consequence:
  • NM_001365951.3:c.3423-15del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001365952.1:c.3423-15del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_015074.3:c.3285-15del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Neuroblastoma (NB)
Identifiers:
MONDO: MONDO:0005072; MeSH: D009447; MedGen: C0027819; Orphanet: 635; Human Phenotype Ontology: HP:0003006

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000346674Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000346674.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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