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.2547-5T>G

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(4);Uncertain significance(4)

Review status:
criteria provided, conflicting interpretations
Submissions:
8 (Most recent: Sep 30, 2021)
Last evaluated:
May 27, 2021
Accession:
VCV000355047.17
Variation ID:
355047
Description:
single nucleotide variant
Help

NM_014845.6(FIG4):c.2547-5T>G

Allele ID
301214
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q21
Genomic location
6: 109825083 (GRCh38) GRCh38 UCSC
6: 110146286 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.110146286T>G
LRG_241:g.138863T>G
LRG_241t1:c.2547-5T>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000006.12:109825082:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00032
Trans-Omics for Precision Medicine (TOPMed) 0.00035
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00085
Links
ClinGen: CA3956446
dbSNP: rs200267243
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jan 12, 2018 RCV000324185.2
Likely benign 1 criteria provided, single submitter Nov 16, 2020 RCV000475395.7
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV001095001.1
Likely benign 1 criteria provided, single submitter - RCV001173264.1
Uncertain significance 1 criteria provided, single submitter Nov 20, 2019 RCV001284788.2
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations May 27, 2021 RCV000858660.6
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
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type 4J
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000459645.3
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)
Likely benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Amyotrophic lateral sclerosis type 11
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000459646.3
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)
Likely benign
(Nov 16, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease type 4
Allele origin: germline
Invitae
Accession: SCV000557784.5
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jan 18, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000722611.2
Submitted: (Sep 30, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 32376792)
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease
Allele origin: germline
Molecular Genetics Laboratory,London Health Sciences Centre
Accession: SCV001336347.1
Submitted: (Apr 07, 2020)
Evidence details
Uncertain significance
(Nov 20, 2019)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001470809.1
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The FIG4 c.2547-5T>G variant (rs200267243), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 355047). This variant … (more)
Uncertain significance
(May 27, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001880451.1
Submitted: (Sep 13, 2021)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Oct 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001154852.7
Submitted: (Jul 04, 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
Oligogenicity, C9orf72 expansion, and variant severity in ALS. Ross JP Neurogenetics 2020 PMID: 32385536

Text-mined citations for rs200267243...

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