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NM_002180.2(IGHMBP2):c.2194A>G (p.Met732Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Feb 20, 2020)
Last evaluated:
Aug 13, 2018
Accession:
VCV000305850.3
Variation ID:
305850
Description:
single nucleotide variant
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NM_002180.2(IGHMBP2):c.2194A>G (p.Met732Val)

Allele ID
315009
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.3
Genomic location
11: 68936674 (GRCh38) GRCh38 UCSC
11: 68704142 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.68936674A>G
NC_000011.9:g.68704142A>G
NM_002180.2:c.2194A>G NP_002171.2:p.Met732Val missense
... more HGVS
Protein change
M732V
Other names
-
Canonical SPDI
NC_000011.10:68936673:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00003
The Genome Aggregation Database (gnomAD) 0.00003
Exome Aggregation Consortium (ExAC) 0.00005
Links
dbSNP: rs750717921
ClinGen: CA6153858
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV000378372.2
Uncertain significance 1 criteria provided, single submitter Aug 13, 2018 RCV000801270.1
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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
810 826

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 13, 2018)
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: SCV000941041.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces methionine with valine at codon 732 of the IGHMBP2 protein (p.Met732Val). The methionine residue is weakly conserved and there is a … (more)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Spinal muscular atrophy, distal, autosomal recessive, 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000373790.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs750717921...

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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 31, 2020