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NM_014629.4(ARHGEF10):c.141A>C (p.Pro47=)

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Sep 23, 2021)
Last evaluated:
Jul 28, 2017
Accession:
VCV000522266.3
Variation ID:
522266
Description:
single nucleotide variant
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NM_014629.4(ARHGEF10):c.141A>C (p.Pro47=)

Allele ID
512831
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8p23.3
Genomic location
8: 1858063 (GRCh38) GRCh38 UCSC
8: 1806229 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_234:g.39081A>C
NC_000008.10:g.1806229A>C
NC_000008.11:g.1858063A>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000008.11:1858062:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.30571 (C)

Allele frequency
1000 Genomes Project 0.30571
Trans-Omics for Precision Medicine (TOPMed) 0.29546
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.29756
Links
ClinGen: CA4599603
dbSNP: rs4875950
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 Jul 28, 2017 RCV000625165.2
Benign 1 no assertion criteria provided - RCV001700416.1
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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
186 323

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jul 28, 2017)
criteria provided, single submitter
Method: clinical testing
Slowed nerve conduction velocity, autosomal dominant
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Study: VKGL Data-share Consensus
Accession: SCV000743957.1
Submitted: (Apr 17, 2018)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001925637.1
Submitted: (Sep 23, 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 rs4875950...

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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 06, 2021