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NM_001365951.3(KIF1B):c.3434G>A (p.Arg1145His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 5, 2021)
Last evaluated:
Sep 15, 2020
Accession:
VCV001032652.1
Variation ID:
1032652
Description:
single nucleotide variant
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NM_001365951.3(KIF1B):c.3434G>A (p.Arg1145His)

Allele ID
1019100
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.22
Genomic location
1: 10339780 (GRCh38) GRCh38 UCSC
1: 10399838 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.10399838G>A
NC_000001.11:g.10339780G>A
NM_001365951.3:c.3434G>A MANE Select NP_001352880.1:p.Arg1145His missense
... more HGVS
Protein change
R1145H, R1099H
Other names
-
Canonical SPDI
NC_000001.11:10339779:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Oct 16, 2018 RCV001334807.1
Uncertain significance 1 criteria provided, single submitter Sep 15, 2020 RCV001341321.1
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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
(Oct 16, 2018)
criteria provided, single submitter
Method: clinical testing
Pheochromocytoma
Allele origin: paternal
Baylor Genetics
Accession: SCV001527770.1
Submitted: (Mar 05, 2021)
Evidence details
Comment:
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Uncertain significance
(Sep 15, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type 2
Allele origin: germline
Invitae
Accession: SCV001535189.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces arginine with histidine at codon 1099 of the KIF1B protein (p.Arg1099His). The arginine residue is highly conserved and there is a … (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.

Record last updated Mar 28, 2021