ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Uncertain significance
- Review status:
- criteria provided, single submitter
- Submissions:
- 1
- First in ClinVar:
- May 12, 2018
- Most recent Submission:
- May 12, 2018
- Last evaluated:
- Jan 1, 2017
- Accession:
- VCV000523509.2
- Variation ID:
- 523509
- Description:
- single nucleotide variant
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NM_001365951.3(KIF1B):c.2680C>T (p.Pro894Ser)
- Allele ID
- 513889
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 1p36.22
- Genomic location
- 1: 10326115 (GRCh38) GRCh38 UCSC
- 1: 10386173 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001365951.3:c.2680C>T MANE Select NP_001352880.1:p.Pro894Ser missense NM_001365952.1:c.2680C>T NP_001352881.1:p.Pro894Ser missense NM_015074.3:c.2542C>T NP_055889.2:p.Pro848Ser missense NC_000001.11:g.10326115C>T NC_000001.10:g.10386173C>T NG_008069.1:g.120410C>T LRG_252:g.120410C>T LRG_252t1:c.2542C>T LRG_252p1:p.Pro848Ser LRG_252t2:c.2680C>T LRG_252p2:p.Pro894Ser - Protein change
- P848S, P894S
- Other names
- -
- Canonical SPDI
- NC_000001.11:10326114:C:T
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- ClinGen: CA338336715
- dbSNP: rs1553167706
- 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 | Jan 1, 2017 | RCV000626924.2 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Uncertain significance
(Jan 01, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Affected status: yes
Allele origin:
unknown
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV000747627.1
First in ClinVar: May 12, 2018 Last updated: May 12, 2018 |
|
Functional evidence
Help| 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
Help| 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 rs1553167706...
HelpThese 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 Mar 26, 2023