NM_000080.4(CHRNE):c.1158dup (p.Lys387fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 11, 2023
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:: RCV004590367.1

Allele description [Variation Report for NM_000080.4(CHRNE):c.1158dup (p.Lys387fs)]

NM_000080.4(CHRNE):c.1158dup (p.Lys387fs)

Genes:

LOC130060040:ATAC-STARR-seq lymphoblastoid silent region 8049 [Gene]
CHRNE:cholinergic receptor nicotinic epsilon subunit [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17p13.2

Genomic location:

Preferred name:

NM_000080.4(CHRNE):c.1158dup (p.Lys387fs)

HGVS:

NC_000017.11:g.4899259dup
NG_008029.2:g.8817dup
NG_028005.1:g.70920dup
NM_000080.4:c.1158dupMANE SELECT
NP_000071.1:p.Lys387fs
LRG_1254t1:c.1158dup
LRG_1254:g.8817dup
LRG_1254p1:p.Lys387fs
NC_000017.10:g.4802553_4802554insC
NC_000017.10:g.4802554dup

Protein change:

K387fs

Links:

dbSNP: rs2151094540

NCBI 1000 Genomes Browser:

rs2151094540

Molecular consequence:

NM_000080.4:c.1158dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005078610	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Dec 11, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005078610

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Dec 11, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV005078610.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 14532324)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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