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NM_014845.6(FIG4):c.2433AGA[2] (p.Glu813del)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: May 29, 2020)
Last evaluated:
May 28, 2020
Accession:
VCV000234659.3
Variation ID:
234659
Description:
3bp microsatellite
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NM_014845.6(FIG4):c.2433AGA[2] (p.Glu813del)

Allele ID
231647
Variant type
Microsatellite
Variant length
3 bp
Cytogenetic location
6q21
Genomic location
6: 109792638-109792640 (GRCh38) GRCh38 UCSC
6: 110113841-110113843 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.110113841AGA[2]
NC_000006.12:g.109792638AGA[2]
NM_014845.6:c.2433AGA[2] MANE Select NP_055660.1:p.Glu813del
... more HGVS
Protein change
E813del
Other names
-
Canonical SPDI
NC_000006.12:109792637:AGAAGAAGA:AGAAGA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs876661144
ClinGen: CA3956394
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 Dec 17, 2015 RCV000216486.1
Likely pathogenic 1 criteria provided, single submitter May 28, 2020 RCV001254717.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FIG4 - - GRCh38
GRCh37
512 541

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 17, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000279661.9
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The c.2439_2441delAGA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.2439_2441delAGA … (more)
Likely pathogenic
(May 28, 2020)
criteria provided, single submitter
Method: research
cerebral hypomyelination
(Autosomal recessive inheritance)
Allele origin: germline
Broad Institute Rare Disease Group, Broad Institute
Accession: SCV001430790.1
Submitted: (May 29, 2020)
Evidence details
Publications
PubMed (1)
Other databases
https://erepo.clinicalgenome.org…
Comment:
The heterozygous p.Glu813del variant in FIG4 was identified by our study, in the compound heterozygous state, along with another likely pathogenic variant, in 3 siblings … (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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Title Author Journal Year Link
Cerebral hypomyelination associated with biallelic variants of FIG4. Lenk GM Human mutation 2019 PMID: 30740813
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/d116bbbd-12e0-406c-b97c-adfa0674aaf4 - - - -

Text-mined citations for rs876661144...

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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 May 28, 2021