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NM_021629.4(GNB4):c.169A>G (p.Lys57Glu)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 23, 2020
Accession:
VCV000856439.2
Variation ID:
856439
Description:
single nucleotide variant
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NM_021629.4(GNB4):c.169A>G (p.Lys57Glu)

Allele ID
827739
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q26.33
Genomic location
3: 179419433 (GRCh38) GRCh38 UCSC
3: 179137221 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.179137221T>C
NC_000003.12:g.179419433T>C
NG_033163.1:g.37151A>G
NM_021629.4:c.169A>G MANE Select NP_067642.1:p.Lys57Glu missense
Protein change
K57E
Other names
-
Canonical SPDI
NC_000003.12:179419432:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1714910248
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Mar 23, 2020 RCV001061902.2
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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

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 23, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, dominant intermediate F
Allele origin: germline
Invitae
Accession: SCV001226665.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces lysine with glutamic acid at codon 57 of the GNB4 protein (p.Lys57Glu). The lysine residue is highly conserved and there is … (more)

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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Title Author Journal Year Link
Confirmation of the GNB4 gene as causal for Charcot-Marie-Tooth disease by a novel de novo mutation in a Czech patient. Laššuthová P Neuromuscular disorders : NMD 2017 PMID: 27908631

Text-mined citations for rs1714910248...

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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