Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_014629.4(ARHGEF10):c.541A>G (p.Thr181Ala)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 24, 2020)
Last evaluated:
Jun 26, 2019
Accession:
VCV000930456.2
Variation ID:
930456
Description:
single nucleotide variant
Help

NM_014629.4(ARHGEF10):c.541A>G (p.Thr181Ala)

Allele ID
919144
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8p23.3
Genomic location
8: 1864432 (GRCh38) GRCh38 UCSC
8: 1812598 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.1812598A>G
NC_000008.11:g.1864432A>G
NM_014629.4:c.541A>G MANE Select NP_055444.2:p.Thr181Ala missense
... more HGVS
Protein change
T182A, T206A, T181A
Other names
-
Canonical SPDI
NC_000008.11:1864431:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 26, 2019 RCV001196131.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ARHGEF10 - - GRCh38
GRCh38
GRCh37
147 284

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 26, 2019)
criteria provided, single submitter
Method: clinical testing
Slowed nerve conduction velocity, autosomal dominant
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV001366635.2
Submitted: (Nov 24, 2020)
Evidence details
Comment:
This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in … (more)

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.

Record last updated Dec 12, 2020