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NM_000748.3(CHRNB2):c.77C>T (p.Thr26Met)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 24, 2021)
Last evaluated:
Dec 2, 2020
Accession:
VCV000205061.8
Variation ID:
205061
Description:
single nucleotide variant
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NM_000748.3(CHRNB2):c.77C>T (p.Thr26Met)

Allele ID
201024
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q21.3
Genomic location
1: 154569474 (GRCh38) GRCh38 UCSC
1: 154541950 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.154541950C>T
NC_000001.11:g.154569474C>T
NG_008027.1:g.6694C>T
NM_000748.3:c.77C>T MANE Select NP_000739.1:p.Thr26Met missense
Protein change
T26M
Other names
p.T26M:ACG>ATG
Canonical SPDI
NC_000001.11:154569473:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00057
1000 Genomes Project 0.00020
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00062
The Genome Aggregation Database (gnomAD), exomes 0.00068
Exome Aggregation Consortium (ExAC) 0.00081
The Genome Aggregation Database (gnomAD) 0.00054
The Genome Aggregation Database (gnomAD) 0.00064
Links
ClinGen: CA313639
dbSNP: rs71651692
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jan 30, 2020 RCV000186981.6
Likely benign 1 criteria provided, single submitter Dec 2, 2020 RCV000531578.5
Benign 1 criteria provided, single submitter May 8, 2019 RCV000717241.1
Benign 1 criteria provided, single submitter Nov 6, 2019 RCV001704976.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CHRNB2 - - GRCh38
GRCh37
299 377

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(May 08, 2019)
criteria provided, single submitter
Method: clinical testing
Seizures
Allele origin: germline
Ambry Genetics
Accession: SCV000848090.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Benign
(Jan 30, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001475778.1
Submitted: (Dec 30, 2020)
Evidence details
Likely benign
(Dec 02, 2020)
criteria provided, single submitter
Method: clinical testing
Autosomal dominant nocturnal frontal lobe epilepsy
Allele origin: germline
Invitae
Accession: SCV000658099.5
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Nov 06, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000240554.12
Submitted: (Sep 24, 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 rs71651692...

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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