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NM_001271208.2(NEB):c.17838G>A (p.Gln5946=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Sep 19, 2018)
Last evaluated:
Aug 28, 2017
Accession:
VCV000285089.1
Variation ID:
285089
Description:
single nucleotide variant
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NM_001271208.2(NEB):c.17838G>A (p.Gln5946=)

Allele ID
269326
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q23.3
Genomic location
2: 151568077 (GRCh38) GRCh38 UCSC
2: 152424591 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_202t1:c.17838G>A
NC_000002.11:g.152424591C>T
NC_000002.12:g.151568077C>T
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00038
Exome Aggregation Consortium (ExAC) 0.00010
The Genome Aggregation Database (gnomAD), exomes 0.00005
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00040
The Genome Aggregation Database (gnomAD) 0.00016
Links
ClinGen: CA1908096
dbSNP: rs376199241
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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 Dec 28, 2015 RCV000361431.1
Likely benign 1 criteria provided, single submitter Aug 28, 2017 RCV000641455.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NEB - - GRCh38
GRCh37
1572 2015

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Aug 28, 2017)
criteria provided, single submitter
Method: clinical testing
Nemaline myopathy 2
Allele origin: germline
Invitae
Accession: SCV000763096.1
Submitted: (Apr 02, 2018)
Evidence details
Uncertain significance
(Dec 28, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000337959.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/em...

Citations for this variant

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

Record last updated Oct 27, 2019