NM_000492.4(CFTR):c.577G>A (p.Glu193Lys) AND ivacaftor response - Efficacy

Clinical significance:drug response (Last evaluated: Mar 22, 2018)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000660831.2

Allele description [Variation Report for NM_000492.4(CFTR):c.577G>A (p.Glu193Lys)]

NM_000492.4(CFTR):c.577G>A (p.Glu193Lys)

Gene:
CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.4(CFTR):c.577G>A (p.Glu193Lys)
HGVS:
  • NC_000007.14:g.117534363G>A
  • NG_016465.4:g.73580G>A
  • NM_000492.3:c.577G>A
  • NM_000492.4:c.577G>AMANE SELECT
  • NP_000483.3:p.Glu193Lys
  • NP_000483.3:p.Glu193Lys
  • LRG_663t1:c.577G>A
  • LRG_663:g.73580G>A
  • LRG_663p1:p.Glu193Lys
  • NC_000007.13:g.117174417G>A
  • P13569:p.Glu193Lys
Protein change:
E193K
Links:
PharmGKB: 1449191424PA165950341; UniProtKB: P13569#VAR_000132; dbSNP: rs397508759
NCBI 1000 Genomes Browser:
rs397508759
Molecular consequence:
  • NM_000492.3:c.577G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000492.4:c.577G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
ivacaftor response - Efficacy
Identifiers:
MedGen: CN236562

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000783070PharmGKBreviewed by expert panel
drug response
(Mar 22, 2018)
Condition: ivacaftor response - Efficacy
Drug reported used for: Cystic Fibrosis
germlinecuration

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

Citation Link

Description

Drug is not necessarily used to treat response condition

SCV000783070

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function.

Van Goor F, Yu H, Burton B, Hoffman BJ.

J Cyst Fibros. 2014 Jan;13(1):29-36. doi: 10.1016/j.jcf.2013.06.008. Epub 2013 Jul 23.

PubMed [citation]
PMID:
23891399

Pharmacogenomics knowledge for personalized medicine.

Whirl-Carrillo M, McDonagh EM, Hebert JM, Gong L, Sangkuhl K, Thorn CF, Altman RB, Klein TE.

Clin Pharmacol Ther. 2012 Oct;92(4):414-7. doi: 10.1038/clpt.2012.96. Review.

PubMed [citation]
PMID:
22992668
PMCID:
PMC3660037

Details of each submission

From PharmGKB, SCV000783070.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)

Description

PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.

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

Last Updated: Oct 21, 2021

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