NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Nov 12, 2018
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000419685.4

Allele description

NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu)

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.1434C>A (p.Asp478Glu)

Other names:

p.D478E:GAC>GAA

HGVS:

NC_000008.11:g.27463009G>T
NG_015827.1:g.21288C>A
NM_000742.4:c.1434C>AMANE SELECT
NM_001282455.2:c.1389C>A
NM_001347705.2:c.957C>A
NM_001347706.2:c.957C>A
NM_001347707.2:c.840C>A
NM_001347708.2:c.840C>A
NP_000733.2:p.Asp478Glu
NP_001269384.1:p.Asp463Glu
NP_001334634.1:p.Asp319Glu
NP_001334635.1:p.Asp319Glu
NP_001334636.1:p.Asp280Glu
NP_001334637.1:p.Asp280Glu
NC_000008.10:g.27320526G>T
NM_000742.3:c.1434C>A

Protein change:

D280E

Links:

dbSNP: rs56344740

NCBI 1000 Genomes Browser:

rs56344740

Molecular consequence:

NM_000742.4:c.1434C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282455.2:c.1389C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001347705.2:c.957C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001347706.2:c.957C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001347707.2:c.840C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001347708.2:c.840C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000511714	Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely Benign (Sep 1, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001143532	Athena Diagnostics Inc	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Nov 12, 2018)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 24950454, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000511714

Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely Benign
(Sep 1, 2016)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001143532

Athena Diagnostics Inc

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Nov 12, 2018)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Two rare variations, D478N and D478E, that occur at the same amino acid residue in nicotinic acetylcholine receptor (nAChR) α2 subunit influence nAChR function.

Dash B, Li MD.

Neuropharmacology. 2014 Oct;85:471-81. doi: 10.1016/j.neuropharm.2014.05.014. Epub 2014 Jun 17.

PubMed [citation]

PMID:: 24950454
PMCID:: PMC4135378

See all PubMed Citations (3)

Details of each submission

From Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics, SCV000511714.1

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

Description

Converted during submission to Likely benign.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	0.004868	not provided	not provided

From Athena Diagnostics Inc, SCV001143532.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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: Jun 15, 2021

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