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NM_001365951.2(KIF1B):c.*249_*250CA[15]

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 22, 2021)
Last evaluated:
Aug 19, 2019
Accession:
VCV000291589.3
Variation ID:
291589
Description:
2bp microsatellite
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NM_001365951.2(KIF1B):c.*249_*250CA[15]

Allele ID
275904
Variant type
Microsatellite
Variant length
2 bp
Cytogenetic location
1p36.22
Genomic location
1: 10376835-10376836 (GRCh38) GRCh38 UCSC
1: 10436893-10436894 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_252t1:c.*279_*280del
NC_000001.10:g.10436894_10436895CA[15]
NC_000001.11:g.10376836_10376837CA[15]
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:10376834:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA
Functional consequence
-
Global minor allele frequency (GMAF)
0.24002 (ACACACACACACACACACACACACACACACA)

Allele frequency
-
Links
ClinGen: CA10607332
dbSNP: rs111663673
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 Jun 14, 2016 RCV000276301.2
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000297327.2
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000370742.2
Benign 1 criteria provided, single submitter Aug 19, 2019 RCV001689963.1
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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
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Pheochromocytoma
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000346764.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Neuroblastoma
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000346765.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth, Type 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000346763.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Aug 19, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001913087.1
Submitted: (Sep 22, 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 rs111663673...

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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 Sep 29, 2021