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NM_000742.4(CHRNA2):c.1181G>A (p.Arg394His) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 19, 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:
RCV000478141.1

Allele description [Variation Report for NM_000742.4(CHRNA2):c.1181G>A (p.Arg394His)]

NM_000742.4(CHRNA2):c.1181G>A (p.Arg394His)

Gene:
CHRNA2:cholinergic receptor nicotinic alpha 2 subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p21.2
Genomic location:
Preferred name:
NM_000742.4(CHRNA2):c.1181G>A (p.Arg394His)
HGVS:
  • NC_000008.11:g.27463262C>T
  • NG_015827.1:g.21035G>A
  • NM_000742.4:c.1181G>AMANE SELECT
  • NM_001282455.2:c.1136G>A
  • NM_001347705.2:c.704G>A
  • NM_001347706.2:c.704G>A
  • NM_001347707.2:c.587G>A
  • NM_001347708.2:c.587G>A
  • NP_000733.2:p.Arg394His
  • NP_001269384.1:p.Arg379His
  • NP_001334634.1:p.Arg235His
  • NP_001334635.1:p.Arg235His
  • NP_001334636.1:p.Arg196His
  • NP_001334637.1:p.Arg196His
  • NC_000008.10:g.27320779C>T
  • NM_000742.3:c.1181G>A
Protein change:
R196H
Links:
dbSNP: rs761054762
NCBI 1000 Genomes Browser:
rs761054762
Molecular consequence:
  • NM_000742.4:c.1181G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282455.2:c.1136G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347705.2:c.704G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347706.2:c.704G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347707.2:c.587G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347708.2:c.587G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000572474GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Dec 19, 2016) 		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, SCV000572474.4

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

Description

A variant of uncertain significance has been identified in the CHRNA2 gene. The R394H variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R394H variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R394H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, this substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Sep 29, 2024