NM_014845.6(FIG4):c.1666dup (p.Thr556fs) AND FIG4-Related Disorders

Clinical significance:Likely pathogenic (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000330403.2

Allele description [Variation Report for NM_014845.6(FIG4):c.1666dup (p.Thr556fs)]

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

Gene:
FIG4:FIG4 phosphoinositide 5-phosphatase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
6q21
Genomic location:
Preferred name:
NM_014845.6(FIG4):c.1666dup (p.Thr556fs)
HGVS:
  • NC_000006.12:g.109766811dup
  • NG_007977.1:g.80591dup
  • NM_014845.5:c.1666dup
  • NM_014845.6:c.1666dupMANE SELECT
  • NP_055660.1:p.Thr556fs
  • NP_055660.1:p.Thr556fs
  • LRG_241t1:c.1666dup
  • LRG_241:g.80591dup
  • LRG_241p1:p.Thr556fs
  • NC_000006.11:g.110088010_110088011insA
  • NC_000006.11:g.110088014dup
  • NM_014845.5:c.1666dupA
Protein change:
T556fs
Links:
dbSNP: rs772320287
NCBI 1000 Genomes Browser:
rs772320287
Molecular consequence:
  • NM_014845.5:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_014845.6:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
FIG4-Related Disorders
Identifiers:
MedGen: CN239318

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000459626Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely pathogenic
(Jun 14, 2016)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.

Nicholson G, Lenk GM, Reddel SW, Grant AE, Towne CF, Ferguson CJ, Simpson E, Scheuerle A, Yasick M, Hoffman S, Blouin R, Brandt C, Coppola G, Biesecker LG, Batish SD, Meisler MH.

Brain. 2011 Jul;134(Pt 7):1959-71. doi: 10.1093/brain/awr148.

PubMed [citation]
PMID:
21705420
PMCID:
PMC3122378

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000459626.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

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 one study in two patients with Charcot-Marie-Tooth disease in a compound heterozygous state with a missense variant (Nicholson et al. 2011). No publications were found for this variant in relation to autosomal dominant amyotrophic lateral sclerosis. The p.Thr556AsnfsTer20 variant was absent from 206 controls and is not found in the 1000 Genomes Project, the Exome Sequencing Project, or the Exome Aggregation Consortium. Due to the potential impact of frameshift variants, the p.Thr556AsnfsTer20 variant is classified as likely pathogenic for FIG4-related disorders.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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