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.367A>G (p.Ile123Val)

Help
Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 7, 2019
Accession:
VCV001111455.1
Variation ID:
1111455
Description:
single nucleotide variant
Help

NM_021629.4(GNB4):c.367A>G (p.Ile123Val)

Allele ID
1092261
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q26.33
Genomic location
3: 179414948 (GRCh38) GRCh38 UCSC
3: 179132736 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.179132736T>C
NC_000003.12:g.179414948T>C
NM_021629.4:c.367A>G MANE Select NP_067642.1:p.Ile123Val missense
NG_033163.1:g.41636A>G
Protein change
I123V
Other names
-
Canonical SPDI
NC_000003.12:179414947:T:C
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
Likely benign 1 criteria provided, single submitter Dec 7, 2019 RCV001438019.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GNB4 - - GRCh38
GRCh37
128 160

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Dec 07, 2019)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, dominant intermediate F
Allele origin: germline
Invitae
Accession: SCV001640886.1
Submitted: (Jan 07, 2021)
Evidence details

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 Jun 14, 2021