NM_001365951.3(KIF1B):c.2115+5955_2115+5958dup AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jan 1, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000993905.2

Allele description [Variation Report for NM_001365951.3(KIF1B):c.2115+5955_2115+5958dup]

NM_001365951.3(KIF1B):c.2115+5955_2115+5958dup

Gene:
KIF1B:kinesin family member 1B [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1p36.22
Genomic location:
Preferred name:
NM_001365951.3(KIF1B):c.2115+5955_2115+5958dup
HGVS:
  • NC_000001.11:g.10303201_10303204dup
  • NG_008069.1:g.97496_97499dup
  • NM_001365951.3:c.2115+5955_2115+5958dupMANE SELECT
  • NM_001365952.1:c.2115+5955_2115+5958dup
  • NM_001365953.1:c.2016_2019dup
  • NM_015074.3:c.1977+5955_1977+5958dup
  • NM_183416.4:c.2016_2019dup
  • NP_001352882.1:p.Cys674fs
  • NP_904325.2:p.Cys674fs
  • LRG_252t1:c.1977+5955_1977+5958dup
  • LRG_252t2:c.2115+5955_2115+5958dup
  • LRG_252:g.97496_97499dup
  • NC_000001.10:g.10363259_10363262dup
Protein change:
C674fs
Links:
dbSNP: rs1569771586
NCBI 1000 Genomes Browser:
rs1569771586
Molecular consequence:
  • NM_001365953.1:c.2016_2019dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_183416.4:c.2016_2019dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001365951.3:c.2115+5955_2115+5958dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001365952.1:c.2115+5955_2115+5958dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_015074.3:c.1977+5955_1977+5958dup - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001147130CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(Jan 1, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001147130.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 6, 2021

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