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_021629.4(GNB4):c.95A>G (p.Gln32Arg)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 6, 2020)
Last evaluated:
Oct 30, 2019
Accession:
VCV000863648.1
Variation ID:
863648
Description:
single nucleotide variant
Help

NM_021629.4(GNB4):c.95A>G (p.Gln32Arg)

Allele ID
827742
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q26.33
Genomic location
3: 179420890 (GRCh38) GRCh38 UCSC
3: 179138678 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.179138678T>C
NC_000003.12:g.179420890T>C
NG_033163.1:g.35694A>G
NM_021629.4:c.95A>G MANE Select NP_067642.1:p.Gln32Arg missense
Protein change
Q32R
Other names
-
Canonical SPDI
NC_000003.12:179420889:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
dbSNP: rs1440906446
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 Oct 30, 2019 RCV001070660.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GNB4 - - GRCh38
GRCh37
136 168

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 30, 2019)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, dominant intermediate F
Allele origin: germline
Invitae
Accession: SCV001235924.1
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change replaces glutamine with arginine at codon 32 of the GNB4 protein (p.Gln32Arg). The glutamine residue is highly conserved and there is a … (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.

Text-mined citations for rs1440906446...

Help
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