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NM_000748.3(CHRNB2):c.109C>T (p.Leu37=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jul 4, 2021)
Last evaluated:
Oct 3, 2020
Accession:
VCV000377680.6
Variation ID:
377680
Description:
single nucleotide variant
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NM_000748.3(CHRNB2):c.109C>T (p.Leu37=)

Allele ID
364486
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q21.3
Genomic location
1: 154569506 (GRCh38) GRCh38 UCSC
1: 154541982 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.154541982C>T
NC_000001.11:g.154569506C>T
NM_000748.3:c.109C>T MANE Select NP_000739.1:p.Leu37= synonymous
NG_008027.1:g.6726C>T
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:154569505:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00029
The Genome Aggregation Database (gnomAD), exomes 0.00026
Trans-Omics for Precision Medicine (TOPMed) 0.00010
The Genome Aggregation Database (gnomAD) 0.00013
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
Links
ClinGen: CA1130629
dbSNP: rs71651693
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 Oct 1, 2020 RCV000711174.4
Likely benign 1 criteria provided, single submitter May 10, 2017 RCV000422281.1
Benign 1 criteria provided, single submitter Oct 3, 2020 RCV001088119.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CHRNB2 - - GRCh38
GRCh37
287 365

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(May 10, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000512622.4
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
(Jun 13, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000841504.1
Submitted: (Aug 31, 2018)
Evidence details
Benign
(Oct 03, 2020)
criteria provided, single submitter
Method: clinical testing
Autosomal dominant nocturnal frontal lobe epilepsy
Allele origin: germline
Invitae
Accession: SCV000776249.4
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Oct 01, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001500394.2
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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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 rs71651693...

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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 Jul 10, 2021