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NM_002180.3(IGHMBP2):c.1493T>C (p.Leu498Pro) AND Autosomal recessive distal spinal muscular atrophy 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 20, 2022
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:
RCV002267553.2

Allele description

NM_002180.3(IGHMBP2):c.1493T>C (p.Leu498Pro)

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.1493T>C (p.Leu498Pro)
HGVS:
  • NC_000011.10:g.68933869T>C
  • NG_007976.1:g.35019T>C
  • NM_002180.3:c.1493T>CMANE SELECT
  • NP_002171.2:p.Leu498Pro
  • LRG_250:g.35019T>C
  • NC_000011.9:g.68701337T>C
Protein change:
L498P
Links:
dbSNP: rs2154008654
NCBI 1000 Genomes Browser:
rs2154008654
Molecular consequence:
  • NM_002180.3:c.1493T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive distal spinal muscular atrophy 1
Synonyms:
HMN VI; NEURONOPATHY, SEVERE INFANTILE AXONAL, WITH RESPIRATORY FAILURE; SEVERE INFANTILE AXONAL NEUROPATHY WITH RESPIRATORY FAILURE; 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
SCV002549682Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
no assertion criteria provided
Likely pathogenic
(Jul 20, 2022) 		biparentalclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedbiparentalyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen, SCV002549682.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testingnot provided

Description

The variant was detected in trans with a well established pathogenic variant in a patient with clinical suspicion of SMA/CMT. It is absent from population databases. It is therefore classified as likely pathogenic.

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

Last Updated: Apr 7, 2025