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_014845.6(FIG4):c.627A>G (p.Leu209=)

Help
Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 2, 2021)
Last evaluated:
Nov 27, 2020
Accession:
VCV000447338.7
Variation ID:
447338
Description:
single nucleotide variant
Help

NM_014845.6(FIG4):c.627A>G (p.Leu209=)

Allele ID
440901
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q21
Genomic location
6: 109735279 (GRCh38) GRCh38 UCSC
6: 110056482 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.110056482A>G
NC_000006.12:g.109735279A>G
NG_007977.1:g.49059A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000006.12:109735278:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (G)

Allele frequency
1000 Genomes Project 0.00040
Exome Aggregation Consortium (ExAC) 0.00056
Trans-Omics for Precision Medicine (TOPMed) 0.00133
The Genome Aggregation Database (gnomAD), exomes 0.00044
The Genome Aggregation Database (gnomAD) 0.00086
The Genome Aggregation Database (gnomAD) 0.00119
Trans-Omics for Precision Medicine (TOPMed) 0.00163
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00200
Links
ClinGen: CA3955850
dbSNP: rs140111406
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts May 1, 2017 RCV000516750.2
Benign 1 criteria provided, single submitter Nov 27, 2020 RCV000555063.4
Likely benign 1 criteria provided, single submitter Aug 22, 2019 RCV001591165.3
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FIG4 - - GRCh38
GRCh37
529 558

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Oct 17, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000613304.1
Submitted: (Aug 17, 2017)
Evidence details
Likely benign
(May 01, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000708031.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Nov 27, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease type 4
Allele origin: germline
Invitae
Accession: SCV000657869.4
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Aug 22, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001827092.1
Submitted: (Sep 02, 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
Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=FIG4 - - - -

Text-mined citations for rs140111406...

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 Dec 04, 2021