NM_000492.3(CFTR):c.3564G>A (p.Ser1188=) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 20, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000078998.4

Allele description [Variation Report for NM_000492.3(CFTR):c.3564G>A (p.Ser1188=)]

NM_000492.3(CFTR):c.3564G>A (p.Ser1188=)

Gene:
CFTR:cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.3(CFTR):c.3564G>A (p.Ser1188=)
HGVS:
  • NC_000007.14:g.117627617G>A
  • NG_016465.4:g.166834G>A
  • NM_000492.3:c.3564G>A
  • NP_000483.3:p.Ser1188=
  • NC_000007.13:g.117267671G>A
  • NG_016465.3:g.166834G>A
  • NP_000483.3:p.(=)
Links:
dbSNP: 146804928
GMAF:
0.0002(A), 146804928
NCBI 1000 Genomes Browser:
rs146804928
Allele Frequency:
0.0001, GO-ESP
Molecular consequence:
  • NM_000492.3:c.3564G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
Not Provided
Identifiers:
MedGen: CN221809

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000110867Emory Genetics Laboratorycriteria provided, single submitter
(EGL Classification Definitions)
Uncertain significance
(Jun 20, 2013)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.

Bean LJ, Tinker SW, da Silva C, Hegde MR.

Hum Mutat. 2013 Sep;34(9):1183-8. doi: 10.1002/humu.22364. Epub 2013 Aug 5.

PubMed [citation]
PMID:
23757202

Details of each submission

From Emory Genetics Laboratory, SCV000110867.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Aug 13, 2015