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NM_001365951.3(KIF1B):c.1365G>A (p.Thr455=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 27, 2021)
Last evaluated:
Nov 27, 2020
Accession:
VCV000291522.8
Variation ID:
291522
Description:
single nucleotide variant
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NM_001365951.3(KIF1B):c.1365G>A (p.Thr455=)

Allele ID
275620
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.22
Genomic location
1: 10342522 (GRCh37) GRCh37 UCSC
1: 10282464 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.11:g.10282464G>A
NG_008069.1:g.76759G>A
NM_001365951.3:c.1365G>A MANE Select NP_001352880.1:p.Thr455= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:10282463:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.04113 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.03276
Trans-Omics for Precision Medicine (TOPMed) 0.03528
Trans-Omics for Precision Medicine (TOPMed) 0.03640
The Genome Aggregation Database (gnomAD) 0.03670
1000 Genomes Project 0.04113
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.03329
The Genome Aggregation Database (gnomAD) 0.03490
The Genome Aggregation Database (gnomAD), exomes 0.03300
Links
ClinGen: CA580949
dbSNP: rs17034660
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000297417.2
Benign 1 criteria provided, single submitter Nov 27, 2020 RCV000473989.7
Benign 1 criteria provided, single submitter - RCV001173387.1
Benign 1 criteria provided, single submitter Mar 3, 2015 RCV001712005.1
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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
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Neuroblastoma
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000346471.3
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)
Benign
(-)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease
Allele origin: germline
Molecular Genetics Laboratory,London Health Sciences Centre
Accession: SCV001336475.1
Submitted: (Apr 07, 2020)
Evidence details
Benign
(Nov 27, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type 2
Allele origin: germline
Invitae
Accession: SCV000559026.5
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001940567.1
Submitted: (Sep 27, 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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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 rs17034660...

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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