NM_000744.7(CHRNA4):c.639T>C (p.Asp213=) AND not provided

Clinical significance:Benign (Last evaluated: May 24, 2017)

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:
RCV000576673.4

Allele description [Variation Report for NM_000744.7(CHRNA4):c.639T>C (p.Asp213=)]

NM_000744.7(CHRNA4):c.639T>C (p.Asp213=)

Gene:
CHRNA4:cholinergic receptor nicotinic alpha 4 subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.33
Genomic location:
Preferred name:
NM_000744.7(CHRNA4):c.639T>C (p.Asp213=)
HGVS:
  • NC_000020.11:g.63350772A>G
  • NG_011931.1:g.15572T>C
  • NM_000744.6:c.639T>C
  • NM_000744.7:c.639T>CMANE SELECT
  • NM_001256573.2:c.111T>C
  • NP_000735.1:p.Asp213=
  • NP_000735.1:p.Asp213=
  • NP_001243502.1:p.Asp37=
  • NC_000020.10:g.61982124A>G
  • NM_000744.5:c.639T>C
  • NR_046317.2:n.848T>C
  • p.Asp213Asp
Links:
dbSNP: rs1044393
NCBI 1000 Genomes Browser:
rs1044393
Molecular consequence:
  • NR_046317.2:n.848T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000744.6:c.639T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_000744.7:c.639T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001256573.2:c.111T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000677251Athena Diagnostics Inccriteria provided, single submitter
Benign
(May 24, 2017)
germlineclinical testing

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

SCV001890523GeneDxcriteria provided, single submitter
Benign
(Mar 3, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

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

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Athena Diagnostics Inc, SCV000677251.2

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

From GeneDx, SCV001890523.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2021

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