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NM_002180.2(IGHMBP2):c.1118T>G (p.Val373Gly) AND Charcot-Marie-Tooth disease, axonal, type 2S

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 6, 2014
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:
RCV000149577.4

Allele description

NM_002180.2(IGHMBP2):c.1118T>G (p.Val373Gly)

Gene:
IGHMBP2:immunoglobulin mu binding protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.3
Genomic location:
Preferred name:
NM_002180.2(IGHMBP2):c.1118T>G (p.Val373Gly)
HGVS:
  • NC_000011.10:g.68929240T>G
  • NG_007976.1:g.30390T>G
  • NM_002180.2:c.1118T>G
  • NP_002171.2:p.Val373Gly
  • LRG_250t1:c.1118T>G
  • LRG_250:g.30390T>G
  • LRG_250p1:p.Val373Gly
  • NC_000011.9:g.68696708T>G
  • P38935:p.Val373Gly
Protein change:
V373G; VAL373GLY
Links:
UniProtKB: P38935#VAR_072696; OMIM: 600502.0013; dbSNP: rs724159959
NCBI 1000 Genomes Browser:
rs724159959
Molecular consequence:
  • NM_002180.2:c.1118T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease, axonal, type 2S (CMT2S)
Synonyms:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2S; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S
Identifiers:
MedGen: CN224983; Orphanet: 443073; OMIM: 616155
Age of onset:
Childhood

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000196553OMIM
no assertion criteria provided
Pathogenic
(Nov 6, 2014) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot 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 OMIM, SCV000196553.2

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

Description

In 2 Italian sibs with Charcot-Marie-Tooth disease type 2S (CMT2S; 616155), Cottenie et al. (2014) identified compound heterozygous mutations in the IGHMBP2 gene: a c.1118T-G transversion, resulting in a val373-to-gly (V373G) substitution, and a c.1582G-A transition, resulting in an ala528-to-thr (A528T; 600502.0014) substitution. Both mutations occurred at conserved residues and were predicted to cause protein instability and a loss of function, but functional studies of the variants were not performed.

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

Last Updated: Oct 5, 2016