Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_002180.3(IGHMBP2):c.2446G>C (p.Glu816Gln)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 5, 2017)
Last evaluated:
Nov 18, 2016
Accession:
VCV000466591.1
Variation ID:
466591
Description:
single nucleotide variant
Help

NM_002180.3(IGHMBP2):c.2446G>C (p.Glu816Gln)

Allele ID
461952
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.3
Genomic location
11: 68936926 (GRCh38) GRCh38 UCSC
11: 68704394 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_002180.2:c.2446G>C NP_002171.2:p.Glu816Gln missense
NC_000011.10:g.68936926G>C
NC_000011.9:g.68704394G>C
... more HGVS
Protein change
E816Q
Other names
-
Canonical SPDI
NC_000011.10:68936925:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA223413728
dbSNP: rs950453484
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Nov 18, 2016 RCV000543729.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 18, 2016)
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: SCV000642341.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change replaces glutamic acid with glutamine at codon 816 of the IGHMBP2 protein (p.Glu816Gln). The glutamic acid residue is weakly conserved and there … (more)

Functional evidence

Help
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

Help
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 rs950453484...

Help
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