NM_000166.6(GJB1):c.43del (p.Arg15fs) 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:: RCV000789952.1

Allele description [Variation Report for NM_000166.6(GJB1):c.43del (p.Arg15fs)]

NM_000166.6(GJB1):c.43del (p.Arg15fs)

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.43del (p.Arg15fs)

HGVS:

NC_000023.11:g.71223750del
NG_008357.1:g.13539del
NM_000166.6:c.43delMANE SELECT
NM_001097642.3:c.43del
NP_000157.1:p.Arg15fs
NP_001091111.1:p.Arg15fs
LRG_245t2:c.43del
LRG_245:g.13539del
LRG_245p2:p.Arg15fs
NC_000023.10:g.70443600del
NM_000166.5:c.43delC

Protein change:

R15fs

Links:

dbSNP: rs1602348594

NCBI 1000 Genomes Browser:

rs1602348594

Molecular consequence:

NM_000166.6:c.43del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001097642.3:c.43del - 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
SCV000929337	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

SCV000929337

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

Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy.

Takashima H, Boerkoel CF, Lupski JR.

Genet Med. 2001 Sep-Oct;3(5):335-42.

PubMed [citation]

PMID:: 11545686

Details of each submission

From Inherited Neuropathy Consortium, SCV000929337.1

#	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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