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NM_002180.3(IGHMBP2):c.734A>G (p.Asn245Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Aug 19, 2019)
Last evaluated:
Apr 24, 2018
Accession:
VCV000534925.3
Variation ID:
534925
Description:
single nucleotide variant
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NM_002180.3(IGHMBP2):c.734A>G (p.Asn245Ser)

Allele ID
527026
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.3
Genomic location
11: 68914845 (GRCh38) GRCh38 UCSC
11: 68682313 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_250:g.15995A>G
LRG_250t1:c.734A>G LRG_250p1:p.Asn245Ser
NC_000011.10:g.68914845A>G
... more HGVS
Protein change
N245S
Other names
-
Canonical SPDI
NC_000011.10:68914844:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA381644261
dbSNP: rs1555243999
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 Apr 24, 2018 RCV000642625.2
Uncertain significance 1 no assertion criteria provided - RCV000789971.1
Uncertain significance 1 no assertion criteria provided Aug 14, 2019 RCV000856964.1
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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
(Apr 24, 2018)
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: SCV000764312.2
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change replaces asparagine with serine at codon 245 of the IGHMBP2 protein (p.Asn245Ser). The asparagine residue is moderately conserved and there is a … (more)
Uncertain significance
(-)
no assertion criteria provided
Method: literature only
Charcot-Marie-Tooth disease
Allele origin: germline
Inherited Neuropathy Consortium
Accession: SCV000929359.1
Submitted: (Jul 10, 2019)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Aug 14, 2019)
no assertion criteria provided
Method: research
Charcot-Marie-Tooth disease, type I
Allele origin: germline
Genesis Genome Database
Accession: SCV000999529.1
Submitted: (Aug 19, 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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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Infantile spinal muscular atrophy with respiratory distress type I presenting without respiratory involvement: Novel mutations and review of the literature. Luan X Brain & development 2016 PMID: 26922252
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. Cottenie E American journal of human genetics 2014 PMID: 25439726

Text-mined citations for rs1555243999...

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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