U.S. flag

An official website of the United States government

NM_002180.3(IGHMBP2):c.1107C>G (p.Phe369Leu) AND Autosomal recessive distal spinal muscular atrophy 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 17, 2023
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:
RCV000009689.6

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.1107C>G (p.Phe369Leu)]

NM_002180.3(IGHMBP2):c.1107C>G (p.Phe369Leu)

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.1107C>G (p.Phe369Leu)
HGVS:
  • NC_000011.10:g.68929229C>G
  • NG_007976.1:g.30379C>G
  • NM_002180.3:c.1107C>GMANE SELECT
  • NP_002171.2:p.Phe369Leu
  • LRG_250:g.30379C>G
  • NC_000011.9:g.68696697C>G
  • P38935:p.Phe369Leu
Protein change:
F369L; PHE369LEU
Links:
UniProtKB: P38935#VAR_072695; OMIM: 600502.0008; dbSNP: rs137852670
NCBI 1000 Genomes Browser:
rs137852670
Molecular consequence:
  • NM_002180.3:c.1107C>G - missense variant - [Sequence Ontology: SO:0001583]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000029907OMIM
no assertion criteria provided
Pathogenic
(Oct 17, 2023) 		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

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 OMIM, SCV000029907.3

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

Description

In a patient from a nonconsanguineous Italian family with autosomal recessive distal hereditary motor neuronopathy-1 (HMNR1; 604320), Guenther et al. (2004) identified compound heterozygosity for mutations in the IGHMBP2 gene: a c.1107C-G transversion in exon 8, resulting in a phe369-to-leu (F369L) substitution, and an 18.5-kb deletion encompassing exons 3-7 (600502.0009). The mutations were inherited from the mother and father, respectively. The authors noted that the 2 Alu repeats flanking the deletion were 81% identical, suggesting that Alu-mediated homologous recombination was the underlying genetic event.

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

Last Updated: Oct 28, 2023