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NM_001365951.3(KIF1B):c.4282G>A (p.Gly1428Ser)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 20, 2020)
Last evaluated:
Jan 13, 2018
Accession:
VCV000875167.1
Variation ID:
875167
Description:
single nucleotide variant
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NM_001365951.3(KIF1B):c.4282G>A (p.Gly1428Ser)

Allele ID
861807
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.22
Genomic location
1: 10361803 (GRCh38) GRCh38 UCSC
1: 10421861 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_252:g.156098G>A
LRG_252t2:c.4282G>A LRG_252p2:p.Gly1428Ser
LRG_252t1:c.4144G>A LRG_252p1:p.Gly1382Ser
... more HGVS
Protein change
G1382S, G1428S
Other names
-
Canonical SPDI
NC_000001.11:10361802: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
Likely benign 1 criteria provided, single submitter Jan 13, 2018 RCV001098767.1
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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
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Neuroblastoma
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001255155.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (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 Oct 08, 2021