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NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu) AND ivacaftor response - Efficacy

Germline classification:
drug response (1 submission)
Last evaluated:
Mar 24, 2021
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000211150.4

Allele description [Variation Report for NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu)]

NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu)

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.3731G>A (p.Gly1244Glu)
HGVS:
  • NC_000007.14:g.117642451G>A
  • NG_016465.4:g.181668G>A
  • NM_000492.4:c.3731G>AMANE SELECT
  • NP_000483.3:p.Gly1244Glu
  • NP_000483.3:p.Gly1244Glu
  • LRG_663t1:c.3731G>A
  • LRG_663:g.181668G>A
  • LRG_663p1:p.Gly1244Glu
  • NC_000007.13:g.117282505G>A
  • NM_000492.3:c.3731G>A
  • P13569:p.Gly1244Glu
Protein change:
G1244E
Links:
PharmGKB: 1183960795; PharmGKB: 1183960795PA165950341; PharmGKB Clinical Annotation: 1183960795; UniProtKB: P13569#VAR_000256; dbSNP: rs267606723
NCBI 1000 Genomes Browser:
rs267606723
Molecular consequence:
  • NM_000492.4:c.3731G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
ivacaftor response - Efficacy
Identifiers:
MedGen: CN322735

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000268279PharmGKB
reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)
drug response
(Mar 24, 2021)
Condition: ivacaftor response - Efficacy
Drug reported used for: Cystic Fibrosis
germlinecuration

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Ivacaftor potentiation of multiple CFTR channels with gating mutations.

Yu H, Burton B, Huang CJ, Worley J, Cao D, Johnson JP Jr, Urrutia A, Joubran J, Seepersaud S, Sussky K, Hoffman BJ, Van Goor F.

J Cyst Fibros. 2012 May;11(3):237-45. doi: 10.1016/j.jcf.2011.12.005. Epub 2012 Jan 30.

PubMed [citation]
PMID:
22293084

Efficacy and safety of ivacaftor in patients with cystic fibrosis and a non-G551D gating mutation.

De Boeck K, Munck A, Walker S, Faro A, Hiatt P, Gilmartin G, Higgins M.

J Cyst Fibros. 2014 Dec;13(6):674-80. doi: 10.1016/j.jcf.2014.09.005. Epub 2014 Sep 26.

PubMed [citation]
PMID:
25266159
See all PubMed Citations (3)

Details of each submission

From PharmGKB, SCV000268279.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (3)

Description

PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C9*3, HLA-B*57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance.

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

Last Updated: Jul 7, 2024