NM_002180.3(IGHMBP2):c.1263C>A (p.Ser421Arg) 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:
RCV000789969.1

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.1263C>A (p.Ser421Arg)]

NM_002180.3(IGHMBP2):c.1263C>A (p.Ser421Arg)

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.1263C>A (p.Ser421Arg)
HGVS:
  • NC_000011.10:g.68933326C>A
  • NG_007976.1:g.34476C>A
  • NM_002180.2:c.1263C>A
  • NM_002180.3:c.1263C>AMANE SELECT
  • NP_002171.2:p.Ser421Arg
  • NP_002171.2:p.Ser421Arg
  • LRG_250t1:c.1263C>A
  • LRG_250:g.34476C>A
  • LRG_250p1:p.Ser421Arg
  • NC_000011.9:g.68700794C>A
Protein change:
S421R
Links:
dbSNP: rs749343954
NCBI 1000 Genomes Browser:
rs749343954
Molecular consequence:
  • NM_002180.2:c.1263C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002180.3:c.1263C>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000929356Inherited 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

Three siblings with progressive respiratory distress as infants.

Breivik N, Fiskerstrand T, Sand T, Vogt C.

Tidsskr Nor Laegeforen. 2013 Aug 6;133(14):1459-63. doi: 10.4045/tidsskr.12.0844. English, Norwegian. No abstract available.

PubMed [citation]
PMID:
23929295

Details of each submission

From Inherited Neuropathy Consortium, SCV000929356.1

#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: Nov 27, 2021

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