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.740T>C (p.Leu247Pro)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 15, 2020
Accession:
VCV000242314.8
Variation ID:
242314
Description:
single nucleotide variant
Help

NM_001370298.3(FGD4):c.740T>C (p.Leu247Pro)

Allele ID
243836
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p11.21
Genomic location
12: 32582196 (GRCh38) GRCh38 UCSC
12: 32735130 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.12:g.32582196T>C
NG_008626.2:g.187668T>C
NM_001304481.1:c.584T>C NP_001291410.1:p.Leu195Pro missense
... more HGVS
Protein change
L110P, L195P, L17P, L247P
Other names
-
Canonical SPDI
NC_000012.12:32582195:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00031
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00069
Exome Aggregation Consortium (ExAC) 0.00031
The Genome Aggregation Database (gnomAD) 0.00029
Trans-Omics for Precision Medicine (TOPMed) 0.00051
Links
ClinGen: CA6506617
dbSNP: rs142609007
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Dec 30, 2019 RCV000233379.5
Uncertain significance 1 criteria provided, single submitter Oct 15, 2020 RCV000558088.6
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001112953.1
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
Uncertain significance
(Jul 23, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000291963.7
Submitted: (Jan 29, 2019)
Evidence details
Comment:
A variant of uncertain significance has been identified in the FGD4 gene. The L110P variant has not been published as a pathogenic variant, nor has … (more)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type 4H
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001270668.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Dec 30, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001143907.2
Submitted: (Dec 30, 2020)
Evidence details
Uncertain significance
(Oct 15, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease type 4
Allele origin: germline
Invitae
Accession: SCV000657981.6
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces leucine with proline at codon 110 of the FGD4 protein (p.Leu110Pro). The leucine residue is moderately 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
Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs142609007...

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