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NM_001365951.3(KIF1B):c.3864+6A>C

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000291575.10
Variation ID:
291575
Description:
single nucleotide variant
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NM_001365951.3(KIF1B):c.3864+6A>C

Allele ID
275742
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.22
Genomic location
1: 10347833 (GRCh38) GRCh38 UCSC
1: 10407891 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.10407891A>C
LRG_252:g.142128A>C
LRG_252t2:c.3864+6A>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:10347832:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00819 (C)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00733
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00884
The Genome Aggregation Database (gnomAD), exomes 0.00207
Exome Aggregation Consortium (ExAC) 0.00237
1000 Genomes Project 0.00819
The Genome Aggregation Database (gnomAD) 0.00656
Links
ClinGen: CA581898
dbSNP: rs114266141
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 Jan 13, 2018 RCV000310750.2
Benign 1 criteria provided, single submitter Dec 4, 2020 RCV000476144.8
Benign 1 criteria provided, single submitter May 7, 2020 RCV001000567.3
Likely benign 1 criteria provided, single submitter - RCV001172610.1
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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
702 740

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Neuroblastoma
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000346697.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type 2
Allele origin: germline
Invitae
Accession: SCV000559035.6
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease
Allele origin: germline
Molecular Genetics Laboratory,London Health Sciences Centre
Accession: SCV001335673.1
Submitted: (Apr 07, 2020)
Evidence details
Benign
(May 07, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001157523.2
Submitted: (Dec 11, 2020)
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 rs114266141...

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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 Nov 11, 2021