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NM_021629.4(GNB4):c.86C>T (p.Thr29Met)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Nov 30, 2018
Accession:
VCV000640327.1
Variation ID:
640327
Description:
single nucleotide variant
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NM_021629.4(GNB4):c.86C>T (p.Thr29Met)

Allele ID
631069
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q26.33
Genomic location
3: 179420899 (GRCh38) GRCh38 UCSC
3: 179138687 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.179138687G>A
NC_000003.12:g.179420899G>A
NG_033163.1:g.35685C>T
NM_021629.4:c.86C>T MANE Select NP_067642.1:p.Thr29Met missense
Protein change
T29M
Other names
-
Canonical SPDI
NC_000003.12:179420898:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD) 0.00003
Links
dbSNP: rs762114369
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Nov 30, 2018 RCV000793331.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
Uncertain significance
(Nov 30, 2018)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, dominant intermediate F
Allele origin: germline
Invitae
Accession: SCV000932679.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces threonine with methionine at codon 29 of the GNB4 protein (p.Thr29Met). The threonine residue is highly conserved and there is a … (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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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 rs762114369...

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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