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NM_002180.3(IGHMBP2):c.2365C>A (p.Pro789Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
May 13, 2019
Accession:
VCV000827641.3
Variation ID:
827641
Description:
single nucleotide variant
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NM_002180.3(IGHMBP2):c.2365C>A (p.Pro789Thr)

Allele ID
815846
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.3
Genomic location
11: 68936845 (GRCh38) GRCh38 UCSC
11: 68704313 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.68936845C>A
NC_000011.9:g.68704313C>A
NG_007976.1:g.37995C>A
... more HGVS
Protein change
P789T
Other names
-
Canonical SPDI
NC_000011.10:68936844:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
dbSNP: rs761789207
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 May 13, 2019 RCV001205176.1
Likely pathogenic 1 no assertion criteria provided - RCV001027462.1
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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
823 839

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 13, 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: SCV001376417.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces proline with threonine at codon 789 of the IGHMBP2 protein (p.Pro789Thr). The proline residue is weakly conserved and there is a … (more)
Likely pathogenic
(-)
no assertion criteria provided
Method: provider interpretation
Distal spinal muscular atrophy
Allele origin: inherited
Inherited Neuropathy Consortium
Accession: SCV001190030.1
Submitted: (Jul 12, 2019)
Evidence details

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 rs761789207...

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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 Nov 27, 2021