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NM_000166.6(GJB1):c.576del (p.Phe193fs) AND Charcot-Marie-Tooth disease X-linked dominant 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 6, 2016
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:
RCV003447206.1

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 X-linked dominant 1
Synonyms:
CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED, 1; CMTX 1; Charcot-Marie-Tooth peroneal muscular atrophy, X-linked; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010549; MedGen: C0393808; Orphanet: 101075; OMIM: 302800

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004174707Inherited Neuropathy Consortium Ii, University Of Miami
no assertion criteria provided
Uncertain significance
(Jan 6, 2016) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature 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 Ii, University Of Miami, SCV004174707.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 17, 2023