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NM_000744.7(CHRNA4):c.622G>A (p.Glu208Lys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 28, 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:
RCV002317076.9

Allele description [Variation Report for NM_000744.7(CHRNA4):c.622G>A (p.Glu208Lys)]

NM_000744.7(CHRNA4):c.622G>A (p.Glu208Lys)

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.622G>A (p.Glu208Lys)
Other names:
p.E208K:GAG>AAG
HGVS:
  • NC_000020.11:g.63350789C>T
  • NG_011931.1:g.15555G>A
  • NM_000744.7:c.622G>AMANE SELECT
  • NM_001256573.2:c.94G>A
  • NP_000735.1:p.Glu208Lys
  • NP_001243502.1:p.Glu32Lys
  • NC_000020.10:g.61982141C>T
  • NM_000744.5:c.622G>A
  • NR_046317.2:n.831G>A
Protein change:
E208K
Links:
dbSNP: rs771249249
NCBI 1000 Genomes Browser:
rs771249249
Molecular consequence:
  • NM_000744.7:c.622G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256573.2:c.94G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046317.2:n.831G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000851134Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 28, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000851134.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.E208K variant (also known as c.622G>A), located in coding exon 5 of the CHRNA4 gene, results from a G to A substitution at nucleotide position 622. The glutamic acid at codon 208 is replaced by lysine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6502 samples (13004 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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

Last Updated: Oct 26, 2024