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_001370298.3(FGD4):c.1234C>T (p.Arg412Ter)

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 6, 2019
Accession:
VCV000001016.5
Variation ID:
1016
Description:
single nucleotide variant
Help

NM_001370298.3(FGD4):c.1234C>T (p.Arg412Ter)

Allele ID
16055
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p11.21
Genomic location
12: 32601410 (GRCh38) GRCh38 UCSC
12: 32754344 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.32754344C>T
LRG_240:g.206882C>T
LRG_240t2:c.1078C>T LRG_240p2:p.Arg360Ter
... more HGVS
Protein change
R275*, R360*, R182*, R27*, R91*, R412*
Other names
-
Canonical SPDI
NC_000012.12:32601409:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Links
dbSNP: rs118203974
ClinGen: CA339860
OMIM: 611104.0006
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Nov 6, 2019 RCV001248027.2
Pathogenic 2 no assertion criteria provided Sep 13, 2012 RCV000001071.4
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FGD4 - - GRCh38
GRCh37
503 539

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 06, 2019)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease type 4
Allele origin: germline
Invitae
Accession: SCV001421486.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Arg275*) in the FGD4 gene. It is expected to result in an absent or disrupted protein … (more)
pathologic
(Sep 13, 2012)
no assertion criteria provided
Method: curation
Charcot-Marie-Tooth Neuropathy Type 4
Allele origin: not provided
GeneReviews
Accession: SCV000054708.1
Submitted: (Nov 29, 2012)
Evidence details
Comment:
Converted during submission to Pathogenic.
Pathogenic
(Feb 17, 2009)
no assertion criteria provided
Method: literature only
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H
Allele origin: germline
OMIM
Accession: SCV000021221.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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
Title Author Journal Year Link
Charcot-Marie-Tooth Neuropathy Type 4 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY Bird TD - 2016 PMID: 20301641
A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H. Houlden H Neurology 2009 PMID: 19221294
Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. Stendel C American journal of human genetics 2007 PMID: 17564972

Text-mined citations for rs118203974...

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 Oct 30, 2021