NM_000166.6(GJB1):c.484dup (p.Met162fs) 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:: RCV000789942.1

Allele description [Variation Report for NM_000166.6(GJB1):c.484dup (p.Met162fs)]

NM_000166.6(GJB1):c.484dup (p.Met162fs)

Gene:

GJB1:gap junction protein beta 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

Xq13.1

Genomic location:

Preferred name:

NM_000166.6(GJB1):c.484dup (p.Met162fs)

HGVS:

NC_000023.11:g.71224191dup
NG_008357.1:g.13980dup
NM_000166.6:c.484dupMANE SELECT
NM_001097642.3:c.484dup
NP_000157.1:p.Met162fs
NP_001091111.1:p.Met162fs
LRG_245t2:c.484dup
LRG_245:g.13980dup
LRG_245p2:p.Met162fs
NC_000023.10:g.70444041dup
NM_000166.5:c.484dupA

Protein change:

M162fs

Links:

dbSNP: rs1602349460

NCBI 1000 Genomes Browser:

rs1602349460

Molecular consequence:

NM_000166.6:c.484dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001097642.3:c.484dup - 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
SCV000929327	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

SCV000929327

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

Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.

Sivera R, Sevilla T, Vílchez JJ, Martínez-Rubio D, Chumillas MJ, Vázquez JF, Muelas N, Bataller L, Millán JM, Palau F, Espinós C.

Neurology. 2013 Oct 29;81(18):1617-25. doi: 10.1212/WNL.0b013e3182a9f56a. Epub 2013 Sep 27.

PubMed [citation]

PMID:: 24078732
PMCID:: PMC3806911

Details of each submission

From Inherited Neuropathy Consortium, SCV000929327.1

#	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: Dec 17, 2023

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