NM_002180.3(IGHMBP2):c.734A>G (p.Asn245Ser) AND Charcot-Marie-Tooth disease

Clinical significance:Uncertain significance

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:
RCV000789971.1

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.734A>G (p.Asn245Ser)]

NM_002180.3(IGHMBP2):c.734A>G (p.Asn245Ser)

Gene:
IGHMBP2:immunoglobulin mu DNA binding protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.3
Genomic location:
Preferred name:
NM_002180.3(IGHMBP2):c.734A>G (p.Asn245Ser)
HGVS:
  • NC_000011.10:g.68914845A>G
  • NG_007976.1:g.15995A>G
  • NM_002180.3:c.734A>GMANE SELECT
  • NP_002171.2:p.Asn245Ser
  • NP_002171.2:p.Asn245Ser
  • LRG_250t1:c.734A>G
  • LRG_250:g.15995A>G
  • LRG_250p1:p.Asn245Ser
  • NC_000011.9:g.68682313A>G
  • NM_002180.2:c.734A>G
Protein change:
N245S
Links:
dbSNP: rs1555243999
NCBI 1000 Genomes Browser:
rs1555243999
Molecular consequence:
  • NM_002180.3:c.734A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease
Synonyms:
Charcot-Marie-Tooth Neuropathy
Identifiers:
MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000929359Inherited Neuropathy Consortiumno assertion criteria providedUncertain significancegermlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

Cottenie E, Kochanski A, Jordanova A, Bansagi B, Zimon M, Horga A, Jaunmuktane Z, Saveri P, Rasic VM, Baets J, Bartsakoulia M, Ploski R, Teterycz P, Nikolic M, Quinlivan R, Laura M, Sweeney MG, Taroni F, Lunn MP, Moroni I, Gonzalez M, Hanna MG, et al.

Am J Hum Genet. 2014 Nov 6;95(5):590-601. doi: 10.1016/j.ajhg.2014.10.002. Epub 2014 Oct 30.

PubMed [citation]
PMID:
25439726
PMCID:
PMC4225647

Details of each submission

From Inherited Neuropathy Consortium, SCV000929359.1

#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 4, 2021

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