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NM_002180.3(IGHMBP2):c.1274G>A (p.Arg425His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 2, 2018)
Last evaluated:
Oct 5, 2017
Accession:
VCV000534933.1
Variation ID:
534933
Description:
single nucleotide variant
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NM_002180.3(IGHMBP2):c.1274G>A (p.Arg425His)

Allele ID
527031
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.3
Genomic location
11: 68933337 (GRCh38) GRCh38 UCSC
11: 68700805 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_002180.2:c.1274G>A NP_002171.2:p.Arg425His missense
NC_000011.10:g.68933337G>A
NC_000011.9:g.68700805G>A
... more HGVS
Protein change
R425H
Other names
-
Canonical SPDI
NC_000011.10:68933336:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00002
Links
ClinGen: CA6153589
dbSNP: rs769046350
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 Oct 5, 2017 RCV000642637.1
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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
(Oct 05, 2017)
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: SCV000764324.1
Submitted: (Apr 02, 2018)
Evidence details
Comment:
This sequence change replaces arginine with histidine at codon 425 of the IGHMBP2 protein (p.Arg425His). The arginine residue is highly 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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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 rs769046350...

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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