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NM_015074.3(KIF1B):c.2473G>A (p.Glu825Lys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 26, 2020
Accession:
VCV000373920.4
Variation ID:
373920
Description:
single nucleotide variant
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NM_015074.3(KIF1B):c.2473G>A (p.Glu825Lys)

Allele ID
360798
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.22
Genomic location
1: 10324831 (GRCh38) GRCh38 UCSC
1: 10384889 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.10384889G>A
NC_000001.11:g.10324831G>A
NM_001365952.1:c.2611G>A NP_001352881.1:p.Glu871Lys missense
... more HGVS
Protein change
E825K, E871K
Other names
-
Canonical SPDI
NC_000001.11:10324830:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00002
The Genome Aggregation Database (gnomAD) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00005
Links
ClinGen: CA581568
dbSNP: rs763122049
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 Sep 23, 2015 RCV000414814.1
Uncertain significance 1 criteria provided, single submitter Jan 1, 2016 RCV001198218.1
Uncertain significance 1 criteria provided, single submitter Jun 26, 2020 RCV001366184.1
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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
691 729

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 23, 2015)
criteria provided, single submitter
Method: clinical testing
EMG abnormality
EMG: myopathic abnormalities
Joint laxity
Pain
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV000492549.1
Submitted: (Nov 12, 2016)
Evidence details
Uncertain significance
(Jan 01, 2016)
criteria provided, single submitter
Method: clinical testing
Pheochromocytoma
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV001369088.2
Submitted: (Nov 24, 2020)
Evidence details
Comment:
This variant was classified as: Uncertain significance.
Uncertain significance
(Jun 26, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type 2
Allele origin: germline
Invitae
Accession: SCV001562480.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces glutamic acid with lysine at codon 825 of the KIF1B protein (p.Glu825Lys). The glutamic acid residue is moderately conserved and there … (more)

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 rs763122049...

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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 Apr 18, 2021