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NM_000748.3(CHRNB2):c.859G>A (p.Val287Met) AND Autosomal dominant nocturnal frontal lobe epilepsy 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 30, 2024
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:
RCV003493411.1

Allele description [Variation Report for NM_000748.3(CHRNB2):c.859G>A (p.Val287Met)]

NM_000748.3(CHRNB2):c.859G>A (p.Val287Met)

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.859G>A (p.Val287Met)
HGVS:
  • NC_000001.11:g.154571682G>A
  • NG_008027.1:g.8902G>A
  • NM_000748.3:c.859G>AMANE SELECT
  • NP_000739.1:p.Val287Met
  • NC_000001.10:g.154544158G>A
  • NM_000748.2:c.859G>A
  • P17787:p.Val287Met
Protein change:
V287M; VAL287MET
Links:
UniProtKB: P17787#VAR_012715; OMIM: 118507.0002; dbSNP: rs74315291
NCBI 1000 Genomes Browser:
rs74315291
Molecular consequence:
  • NM_000748.3:c.859G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal dominant nocturnal frontal lobe epilepsy 1
Synonyms:
Epilepsy, nocturnal frontal lobe, type 1
Identifiers:
MONDO: MONDO:0010899; MedGen: C1838049; Orphanet: 98784; OMIM: 600513

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004242495Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Jan 30, 2024)
paternalclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute of Human Genetics, University of Leipzig Medical Center, SCV004242495.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Criteria applied: PS4,PM5_STR,PS3_MOD,PP1_MOD,PM2_SUP,PP3

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

Last Updated: Oct 20, 2024