Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

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

Help
Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Oct 30, 2021)
Last evaluated:
Oct 20, 2021
Accession:
VCV000291568.6
Variation ID:
291568
Description:
1bp deletion
Help

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

Allele ID
275809
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
1p36.22
Genomic location
1: 10339754 (GRCh38) GRCh38 UCSC
1: 10399812 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_252t1:c.3285-15del
LRG_252:g.134049del
LRG_252t2:c.3423-15del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:10339753:A:
Functional consequence
-
Global minor allele frequency (GMAF)
0.04133 ()

Allele frequency
Exome Aggregation Consortium (ExAC) 0.03349
The Genome Aggregation Database (gnomAD) 0.03458
Trans-Omics for Precision Medicine (TOPMed) 0.03502
The Genome Aggregation Database (gnomAD) 0.03532
Trans-Omics for Precision Medicine (TOPMed) 0.03601
1000 Genomes Project 0.04133
Links
ClinGen: CA581778
dbSNP: rs3215996
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000283128.2
Benign 1 criteria provided, single submitter - RCV001173395.1
Benign 1 criteria provided, single submitter Oct 20, 2021 RCV001764256.1
Benign 1 criteria provided, single submitter Aug 24, 2020 RCV001286259.2
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Neuroblastoma
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000346674.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(-)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease
Allele origin: germline
Molecular Genetics Laboratory,London Health Sciences Centre
Accession: SCV001336483.1
Submitted: (Apr 07, 2020)
Evidence details
Benign
(Aug 24, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001472798.1
Submitted: (Dec 11, 2020)
Evidence details
Benign
(Oct 20, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001988715.1
Submitted: (Oct 30, 2021)
Evidence details

Functional evidence

Help
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

Help
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 rs3215996...

Help
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 27, 2021