NM_000748.3(CHRNB2):c.329A>C (p.Lys110Thr) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 23, 2016
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:
RCV000416529.2

Allele description [Variation Report for NM_000748.3(CHRNB2):c.329A>C (p.Lys110Thr)]

NM_000748.3(CHRNB2):c.329A>C (p.Lys110Thr)

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.329A>C (p.Lys110Thr)
Other names:
p.K110T:AAA>ACA
HGVS:
  • NC_000001.11:g.154570331A>C
  • NG_008027.1:g.7551A>C
  • NM_000748.3:c.329A>CMANE SELECT
  • NP_000739.1:p.Lys110Thr
  • NC_000001.10:g.154542807A>C
  • NM_000748.2:c.329A>C
  • p.(Lys110Thr)
Protein change:
K110T
Links:
dbSNP: rs199885651
NCBI 1000 Genomes Browser:
rs199885651
Molecular consequence:
  • NM_000748.3:c.329A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Seizure
Synonyms:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250
Name:
Deeply set eye
Synonyms:
Enophthalmos
Identifiers:
MONDO: MONDO:0001210; MedGen: C0423224; Human Phenotype Ontology: HP:0000490
Name:
Microcephaly
Synonyms:
Microcephaly (disease)
Identifiers:
MONDO: MONDO:0001149; MedGen: C4551563; Human Phenotype Ontology: HP:0000252

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
SCV000494437Center of Genomic medicine, Geneva, University Hospital of Geneva
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 23, 2016) 		maternalclinical testing

Help

Summary from all submissions

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

Details of each submission

From Center of Genomic medicine, Geneva, University Hospital of Geneva, SCV000494437.2

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

Last Updated: Oct 8, 2024