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NM_000744.7(CHRNA4):c.617G>C (p.Ser206Thr) AND Tobacco use disorder

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:
RCV000084620.1

Allele description [Variation Report for NM_000744.7(CHRNA4):c.617G>C (p.Ser206Thr)]

NM_000744.7(CHRNA4):c.617G>C (p.Ser206Thr)

Gene:
CHRNA4:cholinergic receptor nicotinic alpha 4 subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.33
Genomic location:
Preferred name:
NM_000744.7(CHRNA4):c.617G>C (p.Ser206Thr)
HGVS:
  • NC_000020.11:g.63350794C>G
  • NG_011931.1:g.15550G>C
  • NM_000744.7:c.617G>CMANE SELECT
  • NM_001256573.2:c.89G>C
  • NP_000735.1:p.Ser206Thr
  • NP_001243502.1:p.Ser30Thr
  • NC_000020.10:g.61982146C>G
  • NM_000744.5:c.617G>C
  • NR_046317.2:n.826G>C
Protein change:
S206T
Links:
dbSNP: rs121912249
NCBI 1000 Genomes Browser:
rs121912249
Molecular consequence:
  • NM_000744.7:c.617G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256573.2:c.89G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046317.2:n.826G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Tobacco use disorder
Identifiers:
MedGen: C0040336

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000116756Psychiatry Genetics Yale University
no classification provided
not providedsomaticnot provided

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Psychiatry Genetics Yale University, SCV000116756.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022