NM_005198.4(CHKB):c.922C>T (p.Gln308Ter) AND Muscular dystrophy, congenital, megaconial type

Clinical significance:Pathogenic (Last evaluated: Jun 10, 2011)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000023945.3

Allele description [Variation Report for NM_005198.4(CHKB):c.922C>T (p.Gln308Ter)]

NM_005198.4(CHKB):c.922C>T (p.Gln308Ter)

Genes:
CHKB-CPT1B:CHKB-CPT1B readthrough (NMD candidate) [Gene - HGNC]
CHKB:choline kinase beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_005198.4(CHKB):c.922C>T (p.Gln308Ter)
HGVS:
  • NC_000022.11:g.50579979G>A
  • NG_029213.1:g.8021C>T
  • NM_005198.4:c.922C>T
  • NP_005189.2:p.Gln308Ter
  • LRG_855t1:c.922C>T
  • LRG_855:g.8021C>T
  • LRG_855p1:p.Gln308Ter
  • NC_000022.10:g.51018408G>A
Protein change:
Q308*; GLN308TER
Links:
OMIM: 612395.0004; dbSNP: 387907069
NCBI 1000 Genomes Browser:
rs387907069
Molecular consequence:
  • NM_005198.4:c.922C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Muscular dystrophy, congenital, megaconial type (MDCMC)
Synonyms:
MUSCULAR DYSTROPHY, CONGENITAL, WITH MITOCHONDRIAL STRUCTURAL ABNORMALITIES
Identifiers:
MedGen: C1865233; Orphanet: 280671; OMIM: 602541
Age of onset:
Infancy
Prevalence:
<1 / 1 000 000 280671

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000045236OMIMno assertion criteria providedPathogenic
(Jun 10, 2011)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.

Mitsuhashi S, Ohkuma A, Talim B, Karahashi M, Koumura T, Aoyama C, Kurihara M, Quinlivan R, Sewry C, Mitsuhashi H, Goto K, Koksal B, Kale G, Ikeda K, Taguchi R, Noguchi S, Hayashi YK, Nonaka I, Sher RB, Sugimoto H, Nakagawa Y, Cox GA, et al.

Am J Hum Genet. 2011 Jun 10;88(6):845-851. doi: 10.1016/j.ajhg.2011.05.010.

PubMed [citation]
PMID:
21665002
PMCID:
PMC3113344

Details of each submission

From OMIM, SCV000045236.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a Turkish patient with megaconial type congenital muscular dystrophy (MDCMC; 602541), Mitsuhashi et al. (2011) identified a homozygous 922C-T transition in exon 8 of the CHKB gene, resulting in a gln308-to-ter (Q308X) substitution.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 8, 2017