U.S. flag

An official website of the United States government

NM_000748.3(CHRNB2):c.378G>A (p.Met126Ile) AND Seizure

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 13, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001256058.1

Allele description [Variation Report for NM_000748.3(CHRNB2):c.378G>A (p.Met126Ile)]

NM_000748.3(CHRNB2):c.378G>A (p.Met126Ile)

Gene:
CHRNB2:cholinergic receptor nicotinic beta 2 subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q21.3
Genomic location:
Preferred name:
NM_000748.3(CHRNB2):c.378G>A (p.Met126Ile)
HGVS:
  • NC_000001.11:g.154571201G>A
  • NG_008027.1:g.8421G>A
  • NM_000748.3:c.378G>AMANE SELECT
  • NP_000739.1:p.Met126Ile
  • NC_000001.10:g.154543677G>A
  • NM_000748.2:c.378G>A
Protein change:
M126I
Links:
dbSNP: rs1696158208
NCBI 1000 Genomes Browser:
rs1696158208
Molecular consequence:
  • NM_000748.3:c.378G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Seizure
Synonyms:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001432845New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Mar 13, 2020) 		paternalclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV001432845.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyes1not providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022