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NM_000080.4(CHRNE):c.1453C>T (p.Leu485Phe) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 12, 2017
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:
RCV000489356.1

Allele description [Variation Report for NM_000080.4(CHRNE):c.1453C>T (p.Leu485Phe)]

NM_000080.4(CHRNE):c.1453C>T (p.Leu485Phe)

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.1453C>T (p.Leu485Phe)
HGVS:
  • NC_000017.11:g.4898765G>A
  • NG_008029.2:g.9311C>T
  • NG_028005.1:g.70426G>A
  • NM_000080.4:c.1453C>TMANE SELECT
  • NP_000071.1:p.Leu485Phe
  • LRG_1254t1:c.1453C>T
  • LRG_1254:g.9311C>T
  • LRG_1254p1:p.Leu485Phe
  • NC_000017.10:g.4802060G>A
  • NM_000080.3:c.1453C>T
Protein change:
L485F
Links:
dbSNP: rs1085307690
NCBI 1000 Genomes Browser:
rs1085307690
Molecular consequence:
  • NM_000080.4:c.1453C>T - 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
SCV000577043GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Apr 12, 2017) 		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, SCV000577043.4

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

Description

The L485F variant in the CHRNE gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The L485F variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The L485F 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 in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret L485F as a variant of uncertain significance.

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

Last Updated: Sep 29, 2024