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NM_001365951.3(KIF1B):c.2330A>G (p.Asn777Ser)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Oct 15, 2021)
Last evaluated:
Dec 6, 2020
Accession:
VCV000240957.8
Variation ID:
240957
Description:
single nucleotide variant
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NM_001365951.3(KIF1B):c.2330A>G (p.Asn777Ser)

Allele ID
238114
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.22
Genomic location
1: 10321829 (GRCh38) GRCh38 UCSC
1: 10381887 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_252:g.116124A>G
LRG_252t2:c.2330A>G LRG_252p2:p.Asn777Ser
LRG_252t1:c.2192A>G LRG_252p1:p.Asn731Ser
... more HGVS
Protein change
N731S, N777S
Other names
-
Canonical SPDI
NC_000001.11:10321828:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00779 (G)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00338
Exome Aggregation Consortium (ExAC) 0.00468
The Genome Aggregation Database (gnomAD) 0.00228
The Genome Aggregation Database (gnomAD), exomes 0.00483
Trans-Omics for Precision Medicine (TOPMed) 0.00204
1000 Genomes Project 0.00779
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
The Genome Aggregation Database (gnomAD) 0.00452
Links
ClinGen: CA581499
dbSNP: rs117525287
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 Dec 6, 2020 RCV000226759.9
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000324402.2
Benign 1 criteria provided, single submitter - RCV001173394.1
Likely benign 1 no assertion criteria provided - RCV001729475.1
Benign 1 no assertion criteria provided - RCV001729476.1
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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
(Dec 06, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type 2
Allele origin: germline
Invitae
Accession: SCV000290041.7
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Neuroblastoma
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000346646.3
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: SCV001336482.1
Submitted: (Apr 07, 2020)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001978284.1
Submitted: (Oct 15, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001979904.1
Submitted: (Oct 15, 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 rs117525287...

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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