NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs) AND Autosomal dominant distal hereditary motor neuropathy

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:
RCV000789980.1

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:
Autosomal dominant distal hereditary motor neuropathy
Identifiers:
MONDO: MONDO:0015362; MedGen: CN263134; Orphanet: 140465

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000929369Inherited 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

Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1.

Guenther UP, Schuelke M, Bertini E, D'Amico A, Goemans N, Grohmann K, Hübner C, Varon R.

Hum Genet. 2004 Sep;115(4):319-26.

PubMed [citation]
PMID:
15290238

Details of each submission

From Inherited Neuropathy Consortium, SCV000929369.1

#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: May 28, 2021

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