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NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 8, 2020
Accession:
VCV000217449.6
Variation ID:
217449
Description:
5bp microsatellite
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NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs)

Allele ID
214089
Variant type
Microsatellite
Variant length
5 bp
Cytogenetic location
11q13.3
Genomic location
11: 68917801-68917805 (GRCh38) GRCh38 UCSC
11: 68685269-68685273 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.68917801AAGAA[1]
NC_000011.9:g.68685269AAGAA[1]
NM_002180.3:c.983_987del MANE Select NP_002171.2:p.Lys328fs frameshift
... more HGVS
Protein change
K328fs
Other names
-
Canonical SPDI
NC_000011.10:68917800:AAGAAAAGAA:AAGAA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA6153470
dbSNP: rs746581714
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Oct 21, 2015 RCV000240655.1
Likely pathogenic 1 criteria provided, single submitter Oct 21, 2015 RCV000240663.1
Pathogenic 1 criteria provided, single submitter Oct 8, 2020 RCV000793527.3
Uncertain significance 1 no assertion criteria provided - RCV000789980.1
Uncertain significance 1 no assertion criteria provided Aug 14, 2019 RCV000856966.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
IGHMBP2 - - GRCh38
GRCh37
803 817

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Oct 21, 2015)
criteria provided, single submitter
Method: research
Spinal muscular atrophy, distal, autosomal recessive, 1
(Autosomal recessive inheritance)
Allele origin: germline
Department of Medical Genetics, Oslo University Hospital
Accession: SCV000255976.1
Submitted: (Oct 21, 2015)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Oct 21, 2015)
criteria provided, single submitter
Method: research
Charcot-Marie-Tooth disease, axonal, type 2S
(Autosomal recessive inheritance)
Allele origin: germline
Department of Medical Genetics, Oslo University Hospital
Accession: SCV000255978.1
Submitted: (Oct 21, 2015)
Evidence details
Publications
PubMed (1)
Pathogenic
(Oct 08, 2020)
criteria provided, single submitter
Method: clinical testing
Spinal muscular atrophy, distal, autosomal recessive, 1
Charcot-Marie-Tooth disease, axonal, type 2S
Allele origin: germline
Invitae
Accession: SCV000932883.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change creates a premature translational stop signal (p.Lys328Thrfs*46) in the IGHMBP2 gene. It is expected to result in an absent or disrupted protein … (more)
Uncertain significance
(-)
no assertion criteria provided
Method: literature only
Autosomal dominant distal hereditary motor neuropathy
Allele origin: germline
Inherited Neuropathy Consortium
Accession: SCV000929369.1
Submitted: (Jul 10, 2019)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Aug 14, 2019)
no assertion criteria provided
Method: research
Charcot-Marie-Tooth disease
Allele origin: germline
Genesis Genome Database
Accession: SCV000999531.1
Submitted: (Aug 19, 2019)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2. Pedurupillay CR Neuromuscular disorders : NMD 2016 PMID: 27450922
Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy. Schottmann G Neurology 2015 PMID: 25568292
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. Cottenie E American journal of human genetics 2014 PMID: 25439726
Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1. Guenther UP Human genetics 2004 PMID: 15290238
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Grohmann K Annals of neurology 2003 PMID: 14681881

Text-mined citations for rs746581714...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated May 28, 2021