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

Clinical significance:Benign/Likely benign (Last evaluated: Nov 12, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000511714Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinicscriteria provided, single submitter
Likely Benign
(Sep 1, 2016)
germlineclinical testing

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

SCV001143532Athena Diagnostics Inccriteria provided, single submitter
Benign
(Nov 12, 2018)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Converted during submission to Likely benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot provided0.004868not providednot provided

From Athena Diagnostics Inc, SCV001143532.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2021

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