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NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Feb 6, 2020)
Last evaluated:
Nov 8, 2019
Accession:
VCV000561032.4
Variation ID:
561032
Description:
single nucleotide variant
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NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter)

Allele ID
552154
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.3
Genomic location
11: 68935374 (GRCh38) GRCh38 UCSC
11: 68702842 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.68935374C>T
NC_000011.9:g.68702842C>T
NG_007976.1:g.36524C>T
... more HGVS
Protein change
R570*
Other names
-
Canonical SPDI
NC_000011.10:68935373:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs1000091588
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Sep 1, 2017 RCV000680011.1
Pathogenic 1 criteria provided, single submitter Nov 8, 2019 RCV001218953.1
Uncertain significance 1 no assertion criteria provided - RCV000790274.1
Uncertain significance 1 no assertion criteria provided Aug 14, 2019 RCV000856973.1
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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
823 839

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 01, 2017)
criteria provided, single submitter
Method: clinical testing
Spinal muscular atrophy, distal, autosomal recessive, 1
(Autosomal recessive inheritance)
Allele origin: germline
Baylor Genetics
Accession: SCV000807449.1
Submitted: (Oct 16, 2017)
Evidence details
Publications
PubMed (2)
Comment:
This mutation has been previously reported as disease-causing and was found once in our laboratory homozygous in a 1-year-old male with congenital senseory and motor … (more)
Pathogenic
(Nov 08, 2019)
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: SCV001390864.1
Submitted: (Feb 06, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change creates a premature translational stop signal (p.Arg570*) 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
Distal spinal muscular atrophy
Allele origin: germline
Inherited Neuropathy Consortium
Accession: SCV000929677.1
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: SCV000999539.1
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
Molecular findings among patients referred for clinical whole-exome sequencing. Yang Y JAMA 2014 PMID: 25326635
Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis. Guenther UP Human mutation 2007 PMID: 17431882

Text-mined citations for rs1000091588...

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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 Dec 04, 2021