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NM_001164508.2(NEB):c.5968G>A (p.Glu1990Lys)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 24, 2021)
Last evaluated:
May 19, 2021
Accession:
VCV000331500.9
Variation ID:
331500
Description:
single nucleotide variant
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NM_001164508.2(NEB):c.5968G>A (p.Glu1990Lys)

Allele ID
284720
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q23.3
Genomic location
2: 151662137 (GRCh38) GRCh38 UCSC
2: 152518651 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.12:g.151662137C>T
NG_009382.2:g.77351G>A
NM_001164507.2:c.5968G>A NP_001157979.2:p.Glu1990Lys missense
... more HGVS
Protein change
E1990K
Other names
-
Canonical SPDI
NC_000002.12:151662136:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00200 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00090
1000 Genomes Project 0.00200
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00267
The Genome Aggregation Database (gnomAD), exomes 0.00068
The Genome Aggregation Database (gnomAD) 0.00280
Trans-Omics for Precision Medicine (TOPMed) 0.00262
Links
ClinGen: CA1910233
dbSNP: rs146310692
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts May 19, 2021 RCV000712395.5
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Dec 5, 2020 RCV001082132.4
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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
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Nemaline myopathy 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000416982.3
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
(May 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000842875.1
Submitted: (Aug 31, 2018)
Evidence details
Benign
(Dec 05, 2020)
criteria provided, single submitter
Method: clinical testing
Nemaline myopathy 2
Allele origin: germline
Invitae
Accession: SCV000640831.4
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(May 19, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000513915.4
Submitted: (Sep 24, 2021)
Evidence details
Likely benign
(Jan 08, 2020)
no assertion criteria provided
Method: clinical testing
Nemaline myopathy type 2
Allele origin: germline
Natera, Inc.
Accession: SCV001461136.1
Submitted: (Dec 28, 2020)
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 rs146310692...

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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 Nov 20, 2021