NM_000166.6(GJB1):c.576del (p.Phe193fs) 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:: RCV000789211.1

Allele description [Variation Report for NM_000166.6(GJB1):c.576del (p.Phe193fs)]

NM_000166.6(GJB1):c.576del (p.Phe193fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

Xq13.1

Genomic location:

Preferred name:

NM_000166.6(GJB1):c.576del (p.Phe193fs)

HGVS:

NC_000023.11:g.71224283del
NG_008357.1:g.14072del
NM_000166.6:c.576delMANE SELECT
NM_001097642.3:c.576del
NP_000157.1:p.Phe193fs
NP_001091111.1:p.Phe193fs
LRG_245t2:c.576del
LRG_245:g.14072del
LRG_245p2:p.Phe193fs
NC_000023.10:g.70444133del
NM_000166.5:c.576delC

Protein change:

F193fs

Links:

dbSNP: rs1602349692

NCBI 1000 Genomes Browser:

rs1602349692

Molecular consequence:

NM_000166.6:c.576del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001097642.3:c.576del - 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
SCV000928563	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

SCV000928563

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, SCV000928563.1

#	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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