Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val)

Help
Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
11 (Most recent: Jul 25, 2021)
Last evaluated:
Jul 10, 2021
Accession:
VCV000095126.8
Variation ID:
95126
Description:
single nucleotide variant
Help

NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val)

Allele ID
101026
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q23.3
Genomic location
2: 151490465 (GRCh38) GRCh38 UCSC
2: 152346979 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.152346979T>C
NC_000002.12:g.151490465T>C
NG_009382.2:g.249023A>G
... more HGVS
Protein change
I6546V, I8437V, I8402V
Other names
-
Canonical SPDI
NC_000002.12:151490464:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.33427 (C)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.40886
1000 Genomes Project 0.33427
Exome Aggregation Consortium (ExAC) 0.41358
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.41879
The Genome Aggregation Database (gnomAD), exomes 0.36634
Trans-Omics for Precision Medicine (TOPMed) 0.40353
Links
ClinGen: CA148226
UniProtKB: P20929#VAR_056954
dbSNP: rs1061305
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 5 criteria provided, multiple submitters, no conflicts Jan 5, 2016 RCV000081132.12
Benign 4 criteria provided, multiple submitters, no conflicts Jul 10, 2021 RCV000398581.5
Benign 1 criteria provided, single submitter Feb 27, 2017 RCV000587497.1
Benign 1 criteria provided, single submitter Jul 10, 2021 RCV001542973.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NEB - - GRCh38
GRCh37
3723 4645
RIF1 - - GRCh38
GRCh37
6 926

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Apr 05, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000113040.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000307330.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Feb 27, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000697822.1
Submitted: (Jan 25, 2018)
Evidence details
Comment:
Variant summary: The NEB c.25309A>G (p.Ile8437Val) variant involves the alteration of a non-conserved nucleotide. 4/4 in silico tools predict a benign outcome for this variant … (more)
Benign
(Jan 05, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000519547.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Nov 26, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000269424.3
Submitted: (Mar 21, 2019)
Evidence details
Comment:
p.Ile8437Val in exon 181 of NEB: This variant is not expected to have clinical s ignificance because it has been identified in 41% (3495/8422) of … (more)
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Nemaline myopathy 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000416808.3
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
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Nemaline myopathy 2
Allele origin: germline
Invitae
Accession: SCV001717870.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jul 10, 2021)
criteria provided, single submitter
Method: clinical testing
Arthrogryposis multiplex congenita 6
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001761408.1
Submitted: (Jul 25, 2021)
Evidence details
Benign
(Jul 10, 2021)
criteria provided, single submitter
Method: clinical testing
Nemaline myopathy 2
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001761409.1
Submitted: (Jul 25, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
AllHighlyPenetrant
(Autosomal recessive inheritance)
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000152004.2
Submitted: (Jun 27, 2014)
Evidence details
Comment:
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated … (more)
Benign
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Nemaline myopathy type 2
Allele origin: germline
Natera, Inc.
Accession: SCV001459155.1
Submitted: (Dec 28, 2020)
Evidence details

Functional evidence

Help
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

Help
Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=NEB - - - -

Text-mined citations for rs1061305...

Help
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 20, 2021