NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs) AND Charcot-Marie-Tooth disease, axonal, type 2S

Clinical significance:Likely pathogenic (Last evaluated: Oct 21, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000240655.1

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs)]

NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs)

Gene:
IGHMBP2:immunoglobulin mu DNA binding protein 2 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
11q13.3
Genomic location:
Preferred name:
NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs)
HGVS:
  • NC_000011.10:g.68917801AAGAA[1]
  • NG_007976.1:g.18951AAGAA[1]
  • NM_002180.3:c.983_987delMANE SELECT
  • NP_002171.2:p.Lys328fs
  • LRG_250t1:c.983_987del
  • LRG_250:g.18951AAGAA[1]
  • NC_000011.9:g.68685269AAGAA[1]
  • NC_000011.9:g.68685269_68685273del
  • NM_002180.2:c.983_987del
  • NM_002180.2:c.983_987delAAGAA
Protein change:
K328fs
Links:
dbSNP: rs746581714
NCBI 1000 Genomes Browser:
rs746581714
Molecular consequence:
  • NM_002180.3:c.983_987del - frameshift variant - [Sequence Ontology: SO:0001589]

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:
MONDO: MONDO:0014511; MedGen: C4015349; Orphanet: 443073; OMIM: 616155

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000255978Department of Medical Genetics, Oslo University Hospitalcriteria provided, single submitter
Likely pathogenic
(Oct 21, 2015)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Norwegaingermlineyes1not providednot provided1yesresearch

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, SCV000255978.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Norwegain1not providedyesresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1leucocytesnot provided1not providednot providednot provided

Last Updated: May 28, 2021

Support Center