NM_000166.6(GJB1):c.383C>A (p.Ser128Ter) 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:: RCV000789854.1

Allele description [Variation Report for NM_000166.6(GJB1):c.383C>A (p.Ser128Ter)]

NM_000166.6(GJB1):c.383C>A (p.Ser128Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq13.1

Genomic location:

Preferred name:

NM_000166.6(GJB1):c.383C>A (p.Ser128Ter)

HGVS:

NC_000023.11:g.71224090C>A
NG_008357.1:g.13879C>A
NM_000166.6:c.383C>AMANE SELECT
NM_001097642.3:c.383C>A
NP_000157.1:p.Ser128Ter
NP_001091111.1:p.Ser128Ter
LRG_245t2:c.383C>A
LRG_245:g.13879C>A
LRG_245p2:p.Ser128Ter
NC_000023.10:g.70443940C>A
NM_000166.5:c.383C>A

Protein change:

S128*

Links:

dbSNP: rs1602349272

NCBI 1000 Genomes Browser:

rs1602349272

Molecular consequence:

NM_000166.6:c.383C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001097642.3:c.383C>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000929239	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

SCV000929239

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

Hereditary motor and sensory neuropathy (HMSN) type X1 in an Argentinean family reveals independent GJB1/Cx32 mutations at the identical nucleotide position.

Gerding WM, Koetting J, Rey LP, Bibas Bonet H, Abdala ME, Mazzeo A, Mostacciuolo ML, Arning L, Carrero-Valenzuela R.

Mol Cell Probes. 2013 Jun-Aug;27(3-4):118-21. doi: 10.1016/j.mcp.2013.01.002. Epub 2013 Feb 4.

PubMed [citation]

PMID:: 23384994

Details of each submission

From Inherited Neuropathy Consortium, SCV000929239.1

#	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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