NM_014845.6(FIG4):c.294del (p.Phe98fs) AND Charcot-Marie-Tooth disease

Germline classification:: Uncertain significance (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000789113.1

Allele description [Variation Report for NM_014845.6(FIG4):c.294del (p.Phe98fs)]

NM_014845.6(FIG4):c.294del (p.Phe98fs)

Gene:

FIG4:FIG4 phosphoinositide 5-phosphatase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6q21

Genomic location:

Preferred name:

NM_014845.6(FIG4):c.294del (p.Phe98fs)

HGVS:

NC_000006.12:g.109727113del
NG_007977.1:g.40893del
NM_014845.6:c.294delMANE SELECT
NP_055660.1:p.Phe98fs
LRG_241:g.40893del
NC_000006.11:g.110048316del
NM_014845.5:c.294delT

Note:

ClinGen staff contributed the HGVS expression for this variant.

Protein change:

F98fs

Links:

OMIM: 609390.0002; dbSNP: rs1562648373

NCBI 1000 Genomes Browser:

rs1562648373

Molecular consequence:

NM_014845.6:c.294del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Charcot-Marie-Tooth disease
Synonyms:: Charcot-Marie-Tooth Neuropathy
Identifiers:: MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000928464	Inherited Neuropathy Consortium	no assertion criteria provided	Uncertain significance	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000928464

Inherited Neuropathy Consortium

no assertion criteria provided

Uncertain significance

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.

Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, Shiga K, Szigeti K, Shy ME, Li J, Zhang X, Lupski JR, Weisman LS, Meisler MH.

Nature. 2007 Jul 5;448(7149):68-72. Epub 2007 Jun 17.

PubMed [citation]

PMID:: 17572665
PMCID:: PMC2271033

Details of each submission

From Inherited Neuropathy Consortium, SCV000928464.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 16, 2024

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