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NM_002180.2(IGHMBP2):c.1730T>C (p.Leu577Pro)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jul 10, 2019)
Last evaluated:
Feb 7, 2017
Accession:
VCV000522868.3
Variation ID:
522868
Description:
single nucleotide variant
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NM_002180.2(IGHMBP2):c.1730T>C (p.Leu577Pro)

Allele ID
513441
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.3
Genomic location
11: 68935396 (GRCh38) GRCh38 UCSC
11: 68702864 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.68935396T>C
NC_000011.9:g.68702864T>C
NM_002180.2:c.1730T>C NP_002171.2:p.Leu577Pro missense
... more HGVS
Protein change
L577P
Other names
-
Canonical SPDI
NC_000011.10:68935395:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA381651275
dbSNP: rs1483165002
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 Feb 7, 2017 RCV000626051.1
Uncertain significance 1 no assertion criteria provided - RCV000789978.1

Clinical features observed in individuals with this variant

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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
810 826

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 07, 2017)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, axonal, type 2S
(Autosomal recessive inheritance)
Allele origin: maternal
Undiagnosed Diseases Network,NIH
Study: Undiagnosed Diseases Network (NIH), UDN
Accession: SCV000746671.2
Submitted: (May 29, 2019)
Evidence details
Comment:
The c.1730T>C variant has been observed in multiple, unrelated, affected individuals with Charcot Marie-Tooth disease 2 (Grohmann K, Varon R, Stolz P, et al. 2003). … (more)
Uncertain significance
(-)
no assertion criteria provided
Method: literature only
Autosomal dominant distal hereditary motor neuropathy
Allele origin: germline
Inherited Neuropathy Consortium
Accession: SCV000929367.1
Submitted: (Jul 10, 2019)
Evidence details
Publications
PubMed (1)

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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Title Author Journal Year Link
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Grohmann K Annals of neurology 2003 PMID: 14681881

Text-mined citations for rs1483165002...

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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 Apr 08, 2021