NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile) AND Charcot-Marie-Tooth disease axonal type 2S

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 21, 2015
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000240662.1

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile)]

NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile)

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.1478C>T (p.Thr493Ile)

HGVS:

NC_000011.10:g.68933854C>T
NG_007976.1:g.35004C>T
NM_002180.3:c.1478C>TMANE SELECT
NP_002171.2:p.Thr493Ile
NP_002171.2:p.Thr493Ile
LRG_250t1:c.1478C>T
LRG_250:g.35004C>T
LRG_250p1:p.Thr493Ile
NC_000011.9:g.68701322C>T
NM_002180.2:c.1478C>T
P38935:p.Thr493Ile

Protein change:

T493I

Links:

UniProtKB: P38935#VAR_058504; dbSNP: rs780594709

NCBI 1000 Genomes Browser:

rs780594709

Molecular consequence:

NM_002180.3:c.1478C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Charcot-Marie-Tooth disease axonal type 2S
Synonyms:: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2S; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S
Identifiers:: MONDO: MONDO:0014511; MedGen: C4015349; Orphanet: 443073; OMIM: 616155

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000255979	Department of Medical Genetics, Oslo University Hospital	criteria provided, single submitter (Pedurupillay CR et al. (Neuromuscul Disord. 2016))	Likely pathogenic (Oct 21, 2015)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000255979

Department of Medical Genetics, Oslo University Hospital

criteria provided, single submitter

(Pedurupillay CR et al. (Neuromuscul Disord. 2016))

Likely pathogenic
(Oct 21, 2015)

germline

research

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
Norwegian	germline	yes	1	not provided	not provided	1	yes	research

Citations

PubMed

Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.

Pedurupillay CR, Amundsen SS, Barøy T, Rasmussen M, Blomhoff A, Stadheim BF, Ørstavik K, Holmgren A, Iqbal T, Frengen E, Misceo D, Strømme P.

Neuromuscul Disord. 2016 Sep;26(9):570-5. doi: 10.1016/j.nmd.2016.06.457. Epub 2016 Jun 22.

PubMed [citation]

PMID:: 27450922

Details of each submission

From Department of Medical Genetics, Oslo University Hospital, SCV000255979.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Norwegian	1	not provided	yes	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	leucocytes	not provided		1	not provided	not provided	not provided

Last Updated: Mar 16, 2024

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