NM_000742.4(CHRNA2):c.1131G>A (p.Trp377Ter) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 27, 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:: RCV002322725.2

Allele description [Variation Report for NM_000742.4(CHRNA2):c.1131G>A (p.Trp377Ter)]

NM_000742.4(CHRNA2):c.1131G>A (p.Trp377Ter)

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.1131G>A (p.Trp377Ter)

HGVS:

NC_000008.11:g.27463312C>T
NG_015827.1:g.20985G>A
NG_113786.1:g.1020C>T
NM_000742.4:c.1131G>AMANE SELECT
NM_001282455.2:c.1086G>A
NM_001347705.2:c.654G>A
NM_001347706.2:c.654G>A
NM_001347707.2:c.537G>A
NM_001347708.2:c.537G>A
NP_000733.2:p.Trp377Ter
NP_001269384.1:p.Trp362Ter
NP_001334634.1:p.Trp218Ter
NP_001334635.1:p.Trp218Ter
NP_001334636.1:p.Trp179Ter
NP_001334637.1:p.Trp179Ter
NC_000008.10:g.27320829C>T
NM_000742.3:c.1131G>A

Protein change:

W179*

Molecular consequence:

NM_000742.4:c.1131G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001282455.2:c.1086G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001347705.2:c.654G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001347706.2:c.654G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001347707.2:c.537G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001347708.2:c.537G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002609294	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 27, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002609294

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 27, 2017)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002609294.2

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

Description

The p.W377* variant (also known as c.1131G>A), located in coding exon 5 of the CHRNA2 gene, results from a G to A substitution at nucleotide position 1131. This changes the amino acid from a tryptophan to a stop codon within coding exon 5. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of CHRNA2 has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024

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