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NM_000742.4(CHRNA2):c.1324C>T (p.Leu442=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 8, 2020
Accession:
VCV000128737.7
Variation ID:
128737
Description:
single nucleotide variant
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NM_000742.4(CHRNA2):c.1324C>T (p.Leu442=)

Allele ID
134186
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8p21.2
Genomic location
8: 27463119 (GRCh38) GRCh38 UCSC
8: 27320636 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.27320636G>A
NC_000008.11:g.27463119G>A
NG_015827.1:g.21178C>T
... more HGVS
Protein change
-
Other names
p.L442L:CTG>TTG
Canonical SPDI
NC_000008.11:27463118:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.01338 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.02236
The Genome Aggregation Database (gnomAD) 0.01724
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01768
Trans-Omics for Precision Medicine (TOPMed) 0.01523
Trans-Omics for Precision Medicine (TOPMed) 0.01533
1000 Genomes Project 0.01338
The Genome Aggregation Database (gnomAD) 0.01760
Exome Aggregation Consortium (ExAC) 0.02309
Links
ClinGen: CA288706
dbSNP: rs56298562
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, single submitter May 16, 2012 RCV000116710.6
Benign 1 criteria provided, single submitter Dec 8, 2020 RCV000230291.5
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000347213.2
Benign 1 criteria provided, single submitter Apr 15, 2016 RCV000715706.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CHRNA2 - - GRCh38
GRCh37
473 539

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(May 16, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000167704.12
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
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Epilepsy, nocturnal frontal lobe, type 4
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000473183.3
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 08, 2020)
criteria provided, single submitter
Method: clinical testing
Autosomal dominant nocturnal frontal lobe epilepsy
Allele origin: germline
Invitae
Accession: SCV000285612.5
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Apr 15, 2016)
criteria provided, single submitter
Method: clinical testing
Seizures
Allele origin: germline
Ambry Genetics
Accession: SCV000846537.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA … (more)
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
AllHighlyPenetrant
(Autosomal dominant inheritance)
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000150679.2
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)

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 rs56298562...

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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 27, 2021