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NM_014629.4(ARHGEF10):c.133C>T (p.Gln45Ter)

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Interpretation:
Uncertain significance​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 12, 2017)
Accession:
VCV000453261.1
Variation ID:
453261
Description:
single nucleotide variant
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NM_014629.4(ARHGEF10):c.133C>T (p.Gln45Ter)

Allele ID
446856
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8p23.3
Genomic location
8: 1858055 (GRCh38) GRCh38 UCSC
8: 1806221 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.1806221C>T
NC_000008.11:g.1858055C>T
NM_014629.4:c.133C>T MANE Select NP_055444.2:p.Gln45Ter nonsense
... more HGVS
Protein change
Q45*, Q69*
Other names
-
Canonical SPDI
NC_000008.11:1858054:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA369954950
dbSNP: rs1467438651
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 no assertion criteria provided - RCV000521194.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ARHGEF10 - - GRCh38
GRCh38
GRCh37
110 247

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
Slowed nerve conduction velocity, autosomal dominant
Allele origin: germline
Institute of Human Genetics,Cologne University
Accession: SCV000612164.1
Submitted: (Dec 12, 2017)
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 rs1467438651...

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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 Apr 17, 2020