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NM_002180.3(IGHMBP2):c.1295C>T (p.Ala432Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Mar 28, 2019)
Last evaluated:
Oct 31, 2018
Accession:
VCV000245837.3
Variation ID:
245837
Description:
single nucleotide variant
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NM_002180.3(IGHMBP2):c.1295C>T (p.Ala432Val)

Allele ID
244680
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.3
Genomic location
11: 68933358 (GRCh38) GRCh38 UCSC
11: 68700826 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.68933358C>T
NC_000011.9:g.68700826C>T
NG_007976.1:g.34508C>T
... more HGVS
Protein change
A432V
Other names
-
Canonical SPDI
NC_000011.10:68933357:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00006
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
Exome Aggregation Consortium (ExAC) 0.00013
The Genome Aggregation Database (gnomAD), exomes 0.00008
Links
ClinGen: CA6153597
dbSNP: rs370414354
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Oct 31, 2018 RCV000763763.2
Uncertain significance 1 criteria provided, single submitter Aug 5, 2015 RCV000236000.1
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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
822 838

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 05, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000292996.9
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The A432V variant in the IGHMBP2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The … (more)
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Spinal muscular atrophy, distal, autosomal recessive, 1
Charcot-Marie-Tooth disease, axonal, type 2S
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000894658.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Uncertain significance
(Aug 22, 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: SCV000956167.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces alanine with valine at codon 432 of the IGHMBP2 protein (p.Ala432Val). The alanine residue is weakly conserved and there is a … (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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Title Author Journal Year Link
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 Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868

Text-mined citations for rs370414354...

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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 Oct 24, 2021