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NM_014845.6(FIG4):c.1666dup (p.Thr556fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 10, 2019
Accession:
VCV000355040.6
Variation ID:
355040
Description:
1bp duplication
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NM_014845.6(FIG4):c.1666dup (p.Thr556fs)

Allele ID
298732
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
6q21
Genomic location
6: 109766807-109766808 (GRCh38) GRCh38 UCSC
6: 110088010-110088011 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_014845.5:c.1666dupA
LRG_241:g.80591dup
LRG_241t1:c.1666dup LRG_241p1:p.Thr556fs
... more HGVS
Protein change
T556fs
Other names
-
Canonical SPDI
NC_000006.12:109766807:AAAA:AAAAA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA3956154
dbSNP: rs772320287
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jun 14, 2016 RCV000330403.2
Pathogenic 1 criteria provided, single submitter Oct 10, 2019 RCV000798693.2
Pathogenic 1 criteria provided, single submitter Jul 16, 2019 RCV000991993.1
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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
529 558

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
FIG4-Related Disorders
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000459626.2
Submitted: (Oct 18, 2016)
Evidence details
Publications
PubMed (1)
Comment:
The c.1666dup (p.Thr556AsnfsTer20) results in a frameshift, and is predicted to result in premature termination of the protein. The p.Thr556AsnfsTer20 variant has been reported in … (more)
Pathogenic
(Oct 10, 2019)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease type 4
Allele origin: germline
Invitae
Accession: SCV000938320.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Thr556Asnfs*21) in the FIG4 gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Jul 16, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001143926.1
Submitted: (Sep 25, 2019)
Evidence details
Publications
PubMed (1)
Comment:
The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in … (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
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. Campeau PM American journal of human genetics 2013 PMID: 23623387
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4. Nicholson G Brain : a journal of neurology 2011 PMID: 21705420

Text-mined citations for rs772320287...

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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 Dec 04, 2021