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NM_015074.3(KIF1B):c.1977+6360G>T

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 23, 2021)
Last evaluated:
Apr 27, 2020
Accession:
VCV000218862.6
Variation ID:
218862
Description:
single nucleotide variant
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NM_015074.3(KIF1B):c.1977+6360G>T

Allele ID
215178
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.22
Genomic location
1: 10303606 (GRCh38) GRCh38 UCSC
1: 10363664 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_252:g.97901G>T
LRG_252t1:c.1977+6360G>T
NC_000001.10:g.10363664G>T
... more HGVS
Protein change
M807I
Other names
-
Canonical SPDI
NC_000001.11:10303605:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00659 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.01949
The Genome Aggregation Database (gnomAD), exomes 0.01837
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01868
1000 Genomes Project 0.00659
Trans-Omics for Precision Medicine (TOPMed) 0.01619
Exome Aggregation Consortium (ExAC) 0.01783
Links
ClinGen: CA249050
dbSNP: rs41274458
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, single submitter Feb 13, 2015 RCV000202848.4
Benign 1 criteria provided, single submitter Apr 27, 2020 RCV001283070.1
Likely benign 3 no assertion criteria provided - RCV001357609.3
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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
(Feb 13, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia
Accession: SCV000258273.2
Submitted: (Aug 10, 2015)
Evidence details
Benign
(Apr 27, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001159541.2
Submitted: (Dec 11, 2020)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001929450.1
Submitted: (Sep 23, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Department of Pathology and Laboratory Medicine,Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001553125.1
Submitted: (Mar 31, 2021)
Evidence details
Comment:
The KIF1B p.Met807Ile variant was identified in dbSNP (ID: rs41274458) and ClinVar (classified as benign by the Division of Genomic Diagnostics, The Children's Hospital of … (more)
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Study: VKGL Data-share Consensus
Accession: SCV001798697.1
Submitted: (Aug 19, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001919203.1
Submitted: (Sep 23, 2021)
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 rs41274458...

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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 24, 2021