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NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
10 (Most recent: Oct 12, 2021)
Last evaluated:
Aug 10, 2021
Accession:
VCV000258577.8
Variation ID:
258577
Description:
single nucleotide variant
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NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val)

Allele ID
254294
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.3
Genomic location
11: 68914934 (GRCh38) GRCh38 UCSC
11: 68682402 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P38935:p.Ile275Val
NC_000011.10:g.68914934A>G
NC_000011.9:g.68682402A>G
... more HGVS
Protein change
I275V
Other names
-
Canonical SPDI
NC_000011.10:68914933:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.11981 (G)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.18192
The Genome Aggregation Database (gnomAD) 0.19067
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.20573
1000 Genomes Project 0.11981
The Genome Aggregation Database (gnomAD) 0.17661
The Genome Aggregation Database (gnomAD), exomes 0.18241
Trans-Omics for Precision Medicine (TOPMed) 0.19209
Trans-Omics for Precision Medicine (TOPMed) 0.19357
Links
ClinGen: CA6153405
UniProtKB: P38935#VAR_024243
dbSNP: rs10896380
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Mar 28, 2016 RCV000244835.2
Benign 3 criteria provided, multiple submitters, no conflicts Jan 12, 2018 RCV000576508.3
Benign 1 criteria provided, single submitter - RCV001173352.1
Benign 1 criteria provided, single submitter Dec 4, 2020 RCV001514629.1
Benign 1 criteria provided, single submitter Mar 3, 2015 RCV001636772.3
Benign 1 criteria provided, single submitter Aug 10, 2021 RCV001729494.1
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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
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000308734.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Spinal muscular atrophy, distal, autosomal recessive, 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000373767.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Mar 28, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000539343.1
Submitted: (Apr 03, 2017)
Evidence details
Comment:
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or … (more)
Benign
(Apr 14, 2017)
criteria provided, single submitter
Method: clinical testing
Spinal muscular atrophy, distal, autosomal recessive, 1
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000677353.1
Submitted: (Jul 17, 2017)
Evidence details
Benign
(-)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease
Allele origin: germline
Molecular Genetics Laboratory,London Health Sciences Centre
Accession: SCV001336440.1
Submitted: (Apr 07, 2020)
Evidence details
Benign
(Dec 04, 2020)
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: SCV001722523.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001852044.1
Submitted: (Sep 10, 2021)
Evidence details
Benign
(Aug 10, 2021)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, axonal, type 2S
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001977502.1
Submitted: (Oct 12, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
Spinal muscular atrophy, distal, autosomal recessive, 1
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000733099.1
Submitted: (Apr 04, 2018)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001921216.1
Submitted: (Sep 23, 2021)
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 rs10896380...

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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