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NM_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter) AND Neuronopathy, distal hereditary motor, autosomal dominant

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000789337.1

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter)]

NM_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter)

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.388C>T (p.Arg130Ter)
HGVS:
  • NC_000011.10:g.68908276C>T
  • NG_007976.1:g.9426C>T
  • NM_002180.3:c.388C>TMANE SELECT
  • NP_002171.2:p.Arg130Ter
  • NP_002171.2:p.Arg130Ter
  • LRG_250t1:c.388C>T
  • LRG_250:g.9426C>T
  • LRG_250p1:p.Arg130Ter
  • NC_000011.9:g.68675744C>T
  • NM_002180.2:c.388C>T
Protein change:
R130*
Links:
dbSNP: rs972425138
NCBI 1000 Genomes Browser:
rs972425138
Molecular consequence:
  • NM_002180.3:c.388C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Neuronopathy, distal hereditary motor, autosomal dominant
Synonyms:
Autosomal dominant distal hereditary motor neuropathy
Identifiers:
MONDO: MONDO:0015362; MedGen: C5548212; Orphanet: 140465; OMIM: PS182960

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000928690Inherited Neuropathy Consortium
no assertion criteria provided
Uncertain significancegermlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

Grohmann K, Varon R, Stolz P, Schuelke M, Janetzki C, Bertini E, Bushby K, Muntoni F, Ouvrier R, Van Maldergem L, Goemans NM, Lochmüller H, Eichholz S, Adams C, Bosch F, Grattan-Smith P, Navarro C, Neitzel H, Polster T, Topaloğlu H, Steglich C, Guenther UP, et al.

Ann Neurol. 2003 Dec;54(6):719-24.

PubMed [citation]
PMID:
14681881

Details of each submission

From Inherited Neuropathy Consortium, SCV000928690.1

#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: Sep 29, 2024