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NM_002180.3(IGHMBP2):c.121C>T (p.Gln41Ter) AND Autosomal recessive distal spinal muscular atrophy 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 2001
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:
RCV000009685.6

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.121C>T (p.Gln41Ter)]

NM_002180.3(IGHMBP2):c.121C>T (p.Gln41Ter)

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.121C>T (p.Gln41Ter)
HGVS:
  • NC_000011.10:g.68906103C>T
  • NG_007976.1:g.7253C>T
  • NM_002180.3:c.121C>TMANE SELECT
  • NP_002171.2:p.Gln41Ter
  • LRG_250:g.7253C>T
  • NC_000011.9:g.68673571C>T
Protein change:
Q41*; GLN41TER
Links:
OMIM: 600502.0004; dbSNP: rs137852668
NCBI 1000 Genomes Browser:
rs137852668
Molecular consequence:
  • NM_002180.3:c.121C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Autosomal recessive distal spinal muscular atrophy 1
Synonyms:
HMN VI; SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC; Spinal muscular atrophy with respiratory distress 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011436; MedGen: C1858517; Orphanet: 98920; OMIM: 604320

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000029903OMIM
no assertion criteria provided
Pathogenic
(Sep 1, 2001) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.

Grohmann K, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C, Bertini E, Leonhardt-Horti H, Muntoni F, Ouvrier R, Pfeufer A, Rossi R, Van Maldergem L, Wilmshurst JM, Wienker TF, Sendtner M, Rudnik-Schöneborn S, Zerres K, Hübner C.

Nat Genet. 2001 Sep;29(1):75-7.

PubMed [citation]
PMID:
11528396

Details of each submission

From OMIM, SCV000029903.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a nonconsanguineous family with 2 affected sibs with autosomal recessive distal hereditary motor neuronopathy-1 (HMNR1; 604320), Grohmann et al. (2001) identified a nonsense mutation, a C-to-T transition at nucleotide 121 (c.121C-T) of the IGHMBP2 gene resulting in a glutamine-to-termination substitution at codon 41 in exon 2. This mutation occurred in compound heterozygosity with a frameshift mutation (600502.0005).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024