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NM_001365951.3(KIF1B):c.2551T>A (p.Leu851Met)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 26, 2020
Accession:
VCV000501119.4
Variation ID:
501119
Description:
single nucleotide variant
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NM_001365951.3(KIF1B):c.2551T>A (p.Leu851Met)

Allele ID
492543
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.22
Genomic location
1: 10324771 (GRCh38) GRCh38 UCSC
1: 10384829 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.10384829T>A
NC_000001.11:g.10324771T>A
NG_008069.1:g.119066T>A
... more HGVS
Protein change
L805M, L851M
Other names
-
Canonical SPDI
NC_000001.11:10324770:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023
The Genome Aggregation Database (gnomAD) 0.00025
The Genome Aggregation Database (gnomAD) 0.00046
Exome Aggregation Consortium (ExAC) 0.00007
Trans-Omics for Precision Medicine (TOPMed) 0.00052
1000 Genomes Project 0.00040
The Genome Aggregation Database (gnomAD), exomes 0.00008
Links
ClinGen: CA581554
dbSNP: rs139572764
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter - RCV001173604.1
Likely benign 1 criteria provided, single submitter Mar 26, 2020 RCV001393026.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jun 18, 2018 RCV000592018.2
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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
702 740

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 17, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000707359.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Jun 18, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001007966.1
Submitted: (Mar 14, 2019)
Evidence details
Uncertain significance
(-)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease
Allele origin: germline
Molecular Genetics Laboratory,London Health Sciences Centre
Accession: SCV001336704.1
Submitted: (Apr 07, 2020)
Evidence details
Likely benign
(Mar 26, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type 2
Allele origin: germline
Invitae
Accession: SCV001594676.1
Submitted: (Jan 07, 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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=KIF1B - - - -

Text-mined citations for rs139572764...

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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 27, 2021