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NM_001365951.3(KIF1B):c.2846C>T (p.Thr949Met)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 5, 2019
Accession:
VCV000845482.5
Variation ID:
845482
Description:
single nucleotide variant
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NM_001365951.3(KIF1B):c.2846C>T (p.Thr949Met)

Allele ID
822372
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.22
Genomic location
1: 10326281 (GRCh38) GRCh38 UCSC
1: 10386339 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_252:g.120576C>T
LRG_252t2:c.2846C>T LRG_252p2:p.Thr949Met
LRG_252t1:c.2708C>T LRG_252p1:p.Thr903Met
... more HGVS
Protein change
T949M, T903M
Other names
-
Canonical SPDI
NC_000001.11:10326280:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Exome Aggregation Consortium (ExAC) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00004
1000 Genomes Project 0.00020
Links
dbSNP: rs141942131
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 Dec 5, 2019 RCV001048551.1
Uncertain significance 1 criteria provided, single submitter Feb 28, 2019 RCV001197631.1
Uncertain significance 1 criteria provided, single submitter - RCV001173602.1
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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
Uncertain significance
(Dec 05, 2019)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type 2
Allele origin: germline
Invitae
Accession: SCV001212564.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces threonine with methionine at codon 903 of the KIF1B protein (p.Thr903Met). The threonine residue is moderately conserved and there is a … (more)
Uncertain significance
(-)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease
Allele origin: germline
Molecular Genetics Laboratory,London Health Sciences Centre
Accession: SCV001336702.1
Submitted: (Apr 07, 2020)
Evidence details
Uncertain significance
(Feb 28, 2019)
criteria provided, single submitter
Method: clinical testing
Pheochromocytoma
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV001368410.2
Submitted: (Nov 24, 2020)
Evidence details
Comment:
This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in … (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 rs141942131...

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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