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NM_002180.3(IGHMBP2):c.1313dup (p.Thr439fs) AND Neuronopathy, distal hereditary motor, autosomal dominant 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 5, 2022
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:
RCV001813800.2

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.1313dup (p.Thr439fs)]

NM_002180.3(IGHMBP2):c.1313dup (p.Thr439fs)

Gene:
IGHMBP2:immunoglobulin mu DNA binding protein 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11q13.3
Genomic location:
Preferred name:
NM_002180.3(IGHMBP2):c.1313dup (p.Thr439fs)
HGVS:
  • NC_000011.10:g.68933376dup
  • NG_007976.1:g.34526dup
  • NM_002180.3:c.1313dupMANE SELECT
  • NP_002171.2:p.Thr439fs
  • LRG_250:g.34526dup
  • NC_000011.9:g.68700843_68700844insT
  • NC_000011.9:g.68700844dup
  • NM_002180.2:c.1313dupT
Protein change:
T439fs
Links:
dbSNP: rs1566443170
NCBI 1000 Genomes Browser:
rs1566443170
Molecular consequence:
  • NM_002180.3:c.1313dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Neuronopathy, distal hereditary motor, autosomal dominant 1
Synonyms:
CHARCOT-MARIE-TOOTH DISEASE, SPINAL, I; HMN I; Neuronopathy, distal hereditary motor, type I; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008451; MedGen: C1866784; Orphanet: 139518; OMIM: 182960

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002061244DASA
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 5, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From DASA, SCV002061244.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The c.1313dup;p.(Thr439Aspfs*62) is a null frameshift variant (NMD) in the IGHMBP2 gene and predicts alteration of the nonsense-mediate decay - NMD is present in a relevantexon to the transcript -PVS1. This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 582766) - PS4. This variant is not present in population databases (rs1566443170, gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. In summary, the currently available evidence indicates that the variant is pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024