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NM_002180.3(IGHMBP2):c.344C>T (p.Thr115Met) AND Autosomal recessive distal spinal muscular atrophy 1

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 27, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001111836.4

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.344C>T (p.Thr115Met)]

NM_002180.3(IGHMBP2):c.344C>T (p.Thr115Met)

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.344C>T (p.Thr115Met)
HGVS:
  • NC_000011.10:g.68908232C>T
  • NG_007976.1:g.9382C>T
  • NM_002180.3:c.344C>TMANE SELECT
  • NP_002171.2:p.Thr115Met
  • NP_002171.2:p.Thr115Met
  • LRG_250t1:c.344C>T
  • LRG_250:g.9382C>T
  • LRG_250p1:p.Thr115Met
  • NC_000011.9:g.68675700C>T
  • NM_002180.2:c.344C>T
Protein change:
T115M
Links:
dbSNP: rs181657861
NCBI 1000 Genomes Browser:
rs181657861
Molecular consequence:
  • NM_002180.3:c.344C>T - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001269438Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Benign
(Apr 27, 2017) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Recessive hereditary motor and sensory neuropathy caused by IGHMBP2 gene mutation.

Shi CH, Song B, Luo HY, Mao CY, Shang DD, Cao Y, Sun SL, Wu J, Zhuang ZP, Xu YM.

Neurology. 2015 Jul 28;85(4):383-4. doi: 10.1212/WNL.0000000000001747. Epub 2015 Jul 1. No abstract available.

PubMed [citation]
PMID:
26136520
PMCID:
PMC4520818

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001269438.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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

Last Updated: Oct 26, 2024