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.1121T>C (p.Ile374Thr)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Feb 6, 2020)
Last evaluated:
Oct 3, 2019
Accession:
VCV000433161.3
Variation ID:
433161
Description:
single nucleotide variant
Help

NM_002180.3(IGHMBP2):c.1121T>C (p.Ile374Thr)

Allele ID
426718
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.3
Genomic location
11: 68929243 (GRCh38) GRCh38 UCSC
11: 68696711 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_250:g.30393T>C
LRG_250t1:c.1121T>C LRG_250p1:p.Ile374Thr
NM_002180.2:c.1121T>C NP_002171.2:p.Ile374Thr missense
... more HGVS
Protein change
I374T
Other names
-
Canonical SPDI
NC_000011.10:68929242:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD) 0.00001
Links
ClinGen: CA381647490
dbSNP: rs1193634362
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 Jan 5, 2017 RCV000498252.1
Uncertain significance 1 criteria provided, single submitter Oct 3, 2019 RCV001244708.1
Uncertain significance 1 no assertion criteria provided Aug 14, 2019 RCV000856968.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
IGHMBP2 - - GRCh38
GRCh37
823 839

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 05, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: inherited, unknown
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children
Accession: SCV000590849.1
Submitted: (Jan 20, 2017)
Evidence details
Uncertain significance
(Oct 03, 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: SCV001417950.1
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change replaces isoleucine with threonine at codon 374 of the IGHMBP2 protein (p.Ile374Thr). The isoleucine residue is moderately conserved and there is a … (more)
Uncertain significance
(Aug 14, 2019)
no assertion criteria provided
Method: research
Charcot-Marie-Tooth disease
Allele origin: germline
Genesis Genome Database
Accession: SCV000999533.1
Submitted: (Aug 19, 2019)
Evidence details

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 rs1193634362...

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 Nov 27, 2021