NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter) AND Distal spinal muscular atrophy

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:
RCV000790274.1

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter)]

NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter)

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.1708C>T (p.Arg570Ter)
HGVS:
  • NC_000011.10:g.68935374C>T
  • NG_007976.1:g.36524C>T
  • NM_002180.2:c.1708C>T
  • NM_002180.3:c.1708C>TMANE SELECT
  • NP_002171.2:p.Arg570Ter
  • NP_002171.2:p.Arg570Ter
  • LRG_250t1:c.1708C>T
  • LRG_250:g.36524C>T
  • LRG_250p1:p.Arg570Ter
  • NC_000011.9:g.68702842C>T
Protein change:
R570*
Links:
dbSNP: rs1000091588
NCBI 1000 Genomes Browser:
rs1000091588
Molecular consequence:
  • NM_002180.2:c.1708C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_002180.3:c.1708C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Distal spinal muscular atrophy
Identifiers:
MONDO: MONDO:0018894; MedGen: C0393541

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000929677Inherited 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

Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.

Guenther UP, Varon R, Schlicke M, Dutrannoy V, Volk A, Hübner C, von Au K, Schuelke M.

Hum Mutat. 2007 Aug;28(8):808-15.

PubMed [citation]
PMID:
17431882

Details of each submission

From Inherited Neuropathy Consortium, SCV000929677.1

#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: Oct 25, 2021

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