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NM_000744.7(CHRNA4):c.560C>G (p.Ala187Gly) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 5, 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:
RCV004525894.2

Allele description [Variation Report for NM_000744.7(CHRNA4):c.560C>G (p.Ala187Gly)]

NM_000744.7(CHRNA4):c.560C>G (p.Ala187Gly)

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.560C>G (p.Ala187Gly)
Other names:
p.A187G:GCC>GGC
HGVS:
  • NC_000020.11:g.63350851G>C
  • NG_011931.1:g.15493C>G
  • NM_000744.7:c.560C>GMANE SELECT
  • NM_001256573.2:c.32C>G
  • NP_000735.1:p.Ala187Gly
  • NP_000735.1:p.Ala187Gly
  • NP_001243502.1:p.Ala11Gly
  • NC_000020.10:g.61982203G>C
  • NM_000744.5:c.560C>G
  • NM_000744.6:c.560C>G
  • NR_046317.2:n.769C>G
Protein change:
A11G
Links:
dbSNP: rs200197645
NCBI 1000 Genomes Browser:
rs200197645
Molecular consequence:
  • NM_000744.7:c.560C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256573.2:c.32C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046317.2:n.769C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005040208Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely benign
(Mar 5, 2024) 		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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005040208.2

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

Description

Variant summary: CHRNA4 c.560C>G (p.Ala187Gly) results in a non-conservative amino acid change located in the Neurotransmitter-gated ion-channel ligand-binding domain (IPR006202) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8.8e-05 in 251244 control chromosomes. To our knowledge, no occurrence of c.560C>G in individuals affected with Epilepsy, Nocturnal Frontal Lobe, Type 1 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 205015). Based on the evidence outlined above, the variant was classified as likely benign.

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

Last Updated: Nov 3, 2024