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NM_001164508.2(NEB):c.1981C>T (p.Leu661=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 28, 2021)
Last evaluated:
Dec 6, 2020
Accession:
VCV000331530.6
Variation ID:
331530
Description:
single nucleotide variant
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NM_001164508.2(NEB):c.1981C>T (p.Leu661=)

Allele ID
284443
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q23.3
Genomic location
2: 151692278 (GRCh38) GRCh38 UCSC
2: 152548792 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.12:g.151692278G>A
NG_009382.2:g.47210C>T
NM_001164507.2:c.1981C>T NP_001157979.2:p.Leu661= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:151692277:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00359 (A)

Allele frequency
1000 Genomes Project 0.00359
The Genome Aggregation Database (gnomAD) 0.00385
Trans-Omics for Precision Medicine (TOPMed) 0.00394
Trans-Omics for Precision Medicine (TOPMed) 0.00385
The Genome Aggregation Database (gnomAD) 0.00395
The Genome Aggregation Database (gnomAD), exomes 0.00083
Exome Aggregation Consortium (ExAC) 0.00102
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00321
Links
ClinGen: CA1911379
dbSNP: rs146460133
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 12, 2019 RCV000712388.4
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Dec 6, 2020 RCV001086664.3
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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
3747 4669

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Nemaline myopathy 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000417036.3
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 06, 2020)
criteria provided, single submitter
Method: clinical testing
Nemaline myopathy 2
Allele origin: germline
Invitae
Accession: SCV000640649.4
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jun 12, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000535848.5
Submitted: (Sep 28, 2021)
Evidence details
Benign
(Aug 09, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000842865.1
Submitted: (Aug 31, 2018)
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 rs146460133...

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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