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NM_015074.3(KIF1B):c.*5019T>C

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000368794.2
Variation ID:
368794
Description:
single nucleotide variant
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NM_015074.3(KIF1B):c.*5019T>C

Allele ID
353023
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.22
Genomic location
1: 10381606 (GRCh38) GRCh38 UCSC
1: 10441664 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_252:g.175901T>C
NC_000001.10:g.10441664T>C
NC_000001.11:g.10381606T>C
NG_008069.1:g.175901T>C
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:10381605:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.47304 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.52929
1000 Genomes Project 0.52696
Trans-Omics for Precision Medicine (TOPMed) 0.53419
Links
ClinGen: CA10654419
dbSNP: rs3748581
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000289173.2
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000343588.2
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000394684.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KIF1B - - GRCh38
GRCh37
691 729

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Neuroblastoma
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000482902.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Pheochromocytoma
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000482904.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth, Type 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000482903.2
Submitted: (Oct 18, 2016)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs3748581...

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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 Sep 29, 2021