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NM_000744.7(CHRNA4):c.521A>G (p.Asn174Ser) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 2, 2013
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:
RCV000186924.1

Allele description [Variation Report for NM_000744.7(CHRNA4):c.521A>G (p.Asn174Ser)]

NM_000744.7(CHRNA4):c.521A>G (p.Asn174Ser)

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.521A>G (p.Asn174Ser)
Other names:
p.N174S:AAC>AGC
HGVS:
  • NC_000020.11:g.63350890T>C
  • NG_011931.1:g.15454A>G
  • NM_000744.7:c.521A>GMANE SELECT
  • NM_001256573.2:c.-8A>G
  • NP_000735.1:p.Asn174Ser
  • NC_000020.10:g.61982242T>C
  • NM_000744.5:c.521A>G
  • NR_046317.2:n.730A>G
Protein change:
N174S
Links:
dbSNP: rs796052316
NCBI 1000 Genomes Browser:
rs796052316
Molecular consequence:
  • NM_001256573.2:c.-8A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000744.7:c.521A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046317.2:n.730A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000240495GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jul 2, 2013) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000240495.11

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

Description

p.Asn174Ser (AAC>AGC): c.521 A>G in exon 5 of the CHRNA4 gene (NM_000744.5) The Asn174Ser missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Asn174Ser is a conservative amino acid substitution as both Asparagine and Serine are uncharged, polar residues. It alters a position in the extracellular region of the protein that is conserved through mammals but is not conserved in more distant species. Two in silico algorithms predict that Asn174Ser is benign, while another algorithm predicts that the change is possibly damaging to the structure/function of the protein. Therefore, based on the currently available information, it is unclear whether Asn174Ser is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

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

Last Updated: Apr 23, 2022