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NM_001164508.2(NEB):c.18861C>T (p.Arg6287=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Oct 1, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000257776.8
Variation ID:
257776
Description:
single nucleotide variant
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NM_001164508.2(NEB):c.18861C>T (p.Arg6287=)

Allele ID
250205
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q23.3
Genomic location
2: 151562641 (GRCh38) GRCh38 UCSC
2: 152419155 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_202:g.176847C>T
LRG_202t1:c.18861C>T
NC_000002.11:g.152419155G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:151562640:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00240 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00100
The Genome Aggregation Database (gnomAD), exomes 0.00072
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00258
The Genome Aggregation Database (gnomAD) 0.00271
1000 Genomes Project 0.00240
Trans-Omics for Precision Medicine (TOPMed) 0.00291
Links
ClinGen: CA1907833
dbSNP: rs146294986
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Jun 11, 2015 RCV000244077.6
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Jul 1, 2020 RCV001310436.3
Benign 1 criteria provided, single submitter Dec 4, 2020 RCV000526714.5
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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

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: SCV000307271.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jun 11, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000332110.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Nemaline myopathy 2
Allele origin: germline
Invitae
Accession: SCV000640632.5
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Mar 26, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000530030.5
Submitted: (Oct 01, 2021)
Evidence details
Likely benign
(Jul 01, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001500232.3
Submitted: (Jul 04, 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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=NEB - - - -

Text-mined citations for rs146294986...

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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 Oct 30, 2021