NM_000166.6(GJB1):c.844dup (p.Ala282fs) AND Charcot-Marie-Tooth disease

Germline classification:: Pathogenic (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:: RCV000789216.1

Allele description [Variation Report for NM_000166.6(GJB1):c.844dup (p.Ala282fs)]

NM_000166.6(GJB1):c.844dup (p.Ala282fs)

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.844dup (p.Ala282fs)

HGVS:

NC_000023.11:g.71224551dup
NG_008357.1:g.14340dup
NM_000166.6:c.844dupMANE SELECT
NM_001097642.3:c.844dup
NP_000157.1:p.Ala282fs
NP_001091111.1:p.Ala282fs
LRG_245t2:c.844dup
LRG_245:g.14340dup
LRG_245p2:p.Ala282fs
NC_000023.10:g.70444401dup
NM_000166.5:c.844dupG

Protein change:

A282fs

Links:

dbSNP: rs1602350062

NCBI 1000 Genomes Browser:

rs1602350062

Molecular consequence:

NM_000166.6:c.844dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001097642.3:c.844dup - 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
SCV000928568	Inherited Neuropathy Consortium	no assertion criteria provided	Pathogenic	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

SCV000928568

Inherited Neuropathy Consortium

no assertion criteria provided

Pathogenic

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

The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.

DiVincenzo C, Elzinga CD, Medeiros AC, Karbassi I, Jones JR, Evans MC, Braastad CD, Bishop CM, Jaremko M, Wang Z, Liaquat K, Hoffman CA, York MD, Batish SD, Lupski JR, Higgins JJ.

Mol Genet Genomic Med. 2014 Nov;2(6):522-9. doi: 10.1002/mgg3.106. Epub 2014 Aug 21.

PubMed [citation]

PMID:: 25614874
PMCID:: PMC4303222

Details of each submission

From Inherited Neuropathy Consortium, SCV000928568.1

#	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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