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NM_014629.4(ARHGEF10):c.3398-16A>G

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Interpretation:
Benign​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Sep 23, 2021)
Accession:
VCV000518392.2
Variation ID:
518392
Description:
single nucleotide variant
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NM_014629.4(ARHGEF10):c.3398-16A>G

Allele ID
508832
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8p23.3
Genomic location
8: 1952689 (GRCh38) GRCh38 UCSC
8: 1900855 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.1900855A>G
NC_000008.11:g.1952689A>G
NG_008480.1:g.133707A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000008.11:1952688:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.05052 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.93024
The Genome Aggregation Database (gnomAD) 0.94300
The Genome Aggregation Database (gnomAD) 0.93211
The Genome Aggregation Database (gnomAD), exomes 0.94932
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.93058
Trans-Omics for Precision Medicine (TOPMed) 0.93341
Exome Aggregation Consortium (ExAC) 0.94906
1000 Genomes Project 0.94948
Links
ClinGen: CA4601358
dbSNP: rs7832438
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 no assertion criteria provided - RCV000609339.1
Benign 1 no assertion criteria provided - RCV001700249.1
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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
(-)
no assertion criteria provided
Method: clinical testing
Slowed nerve conduction velocity, autosomal dominant
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000734601.1
Submitted: (Apr 04, 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: SCV001919348.1
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 rs7832438...

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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