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

Clinical significance:Benign (Last evaluated: Mar 16, 2016)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000116722.6

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]
Observations:
6

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000150696Genetic Services Laboratory,University of Chicagono assertion criteria providedLikely benigngermlineclinical testing

SCV000305471PreventionGenetics,PreventionGeneticscriteria provided, single submitter
Benigngermlineclinical testing

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

SCV000331357EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Mar 16, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown6not 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

Details of each submission

From Genetic Services Laboratory,University of Chicago, SCV000150696.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From PreventionGenetics,PreventionGenetics, SCV000305471.1

#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 EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000331357.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided6not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided6not providednot providednot provided

Last Updated: Nov 27, 2021

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