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NM_000080.4(CHRNE):c.1419C>G (p.Ile473Met) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 3, 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:
RCV000487143.1

Allele description [Variation Report for NM_000080.4(CHRNE):c.1419C>G (p.Ile473Met)]

NM_000080.4(CHRNE):c.1419C>G (p.Ile473Met)

Gene:
CHRNE:cholinergic receptor nicotinic epsilon subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.2
Genomic location:
Preferred name:
NM_000080.4(CHRNE):c.1419C>G (p.Ile473Met)
HGVS:
  • NC_000017.11:g.4898799G>C
  • NG_008029.2:g.9277C>G
  • NG_028005.1:g.70460G>C
  • NM_000080.4:c.1419C>GMANE SELECT
  • NP_000071.1:p.Ile473Met
  • LRG_1254t1:c.1419C>G
  • LRG_1254:g.9277C>G
  • LRG_1254p1:p.Ile473Met
  • NC_000017.10:g.4802094G>C
  • NM_000080.3:c.1419C>G
Protein change:
I473M
Links:
dbSNP: rs750097789
NCBI 1000 Genomes Browser:
rs750097789
Molecular consequence:
  • NM_000080.4:c.1419C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000570590GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jun 3, 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, SCV000570590.4

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

Description

The I473M variant in the CHRNE gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The I473M variant was not observed in the Exome Aggregation Consortium (ExAC) data set, indicating it is not a common benign variant. The I473M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret I473M as a variant of uncertain significance.

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

Last Updated: Apr 23, 2022