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NM_000748.3(CHRNB2):c.373G>A (p.Gly125Ser) AND Autosomal dominant nocturnal frontal lobe epilepsy 3

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 21, 2021
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:
RCV002265750.1

Allele description [Variation Report for NM_000748.3(CHRNB2):c.373G>A (p.Gly125Ser)]

NM_000748.3(CHRNB2):c.373G>A (p.Gly125Ser)

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.373G>A (p.Gly125Ser)
HGVS:
  • NC_000001.11:g.154571196G>A
  • NG_008027.1:g.8416G>A
  • NM_000748.3:c.373G>AMANE SELECT
  • NP_000739.1:p.Gly125Ser
  • NC_000001.10:g.154543672G>A
  • NM_000748.2:c.373G>A
Protein change:
G125S
Links:
dbSNP: rs922186544
NCBI 1000 Genomes Browser:
rs922186544
Molecular consequence:
  • NM_000748.3:c.373G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Autosomal dominant nocturnal frontal lobe epilepsy 3
Synonyms:
Epilepsy, nocturnal frontal lobe, type 3
Identifiers:
MONDO: MONDO:0011545; MedGen: C1854335; Orphanet: 98784; OMIM: 605375

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002548656New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(May 21, 2021) 		inheritedclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV002548656.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024