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NM_002180.3(IGHMBP2):c.2295C>G (p.His765Gln)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 2, 2019
Accession:
VCV000466589.3
Variation ID:
466589
Description:
single nucleotide variant
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NM_002180.3(IGHMBP2):c.2295C>G (p.His765Gln)

Allele ID
461449
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.3
Genomic location
11: 68936775 (GRCh38) GRCh38 UCSC
11: 68704243 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_250:g.37925C>G
LRG_250t1:c.2295C>G LRG_250p1:p.His765Gln
NC_000011.9:g.68704243C>G
... more HGVS
Protein change
H765Q
Other names
-
Canonical SPDI
NC_000011.10:68936774:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
Links
ClinGen: CA6153877
dbSNP: rs149185954
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 2, 2019 RCV000545267.2
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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
823 839

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 02, 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: SCV000642335.3
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces histidine with glutamine at codon 765 of the IGHMBP2 protein (p.His765Gln). The histidine 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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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 rs149185954...

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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 Dec 04, 2021