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NM_000748.3(CHRNB2):c.1046T>C (p.Met349Thr) AND Autosomal dominant nocturnal frontal lobe epilepsy 3

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV001535577.2

Allele description [Variation Report for NM_000748.3(CHRNB2):c.1046T>C (p.Met349Thr)]

NM_000748.3(CHRNB2):c.1046T>C (p.Met349Thr)

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.1046T>C (p.Met349Thr)
HGVS:
  • NC_000001.11:g.154571869T>C
  • NG_008027.1:g.9089T>C
  • NM_000748.3:c.1046T>CMANE SELECT
  • NP_000739.1:p.Met349Thr
  • NC_000001.10:g.154544345T>C
  • NM_000748.2:c.1046T>C
Protein change:
M349T
Links:
dbSNP: rs141735618
NCBI 1000 Genomes Browser:
rs141735618
Molecular consequence:
  • NM_000748.3:c.1046T>C - missense variant - [Sequence Ontology: SO:0001583]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001749566GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV001749566.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 09-17-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 12, 2024