NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) AND ivacaftor response - Efficacy - ClinVar

NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) 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:: RCV000660830.4

Allele description [Variation Report for NM_000492.4(CFTR):c.330C>A (p.Asp110Glu)]

NM_000492.4(CFTR):c.330C>A (p.Asp110Glu)

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.330C>A (p.Asp110Glu)

HGVS:

NC_000007.14:g.117530955C>A
NG_016465.4:g.70172C>A
NM_000492.4:c.330C>AMANE SELECT
NP_000483.3:p.Asp110Glu
NP_000483.3:p.Asp110Glu
LRG_663t1:c.330C>A
LRG_663:g.70172C>A
LRG_663p1:p.Asp110Glu
NC_000007.13:g.117171009C>A
NM_000492.3:c.330C>A

Protein change:

D110E

Links:

PharmGKB: 1449191401PA165950341; dbSNP: rs397508537

NCBI 1000 Genomes Browser:

rs397508537

Molecular consequence:

NM_000492.4:c.330C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: ivacaftor response - Efficacy
Identifiers:: MedGen: CN322735

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000783069	PharmGKB	reviewed by expert panel (Pharmacogenomics knowledge for personalized medicine)	drug response (Mar 24, 2021) Condition: ivacaftor response - Efficacy Drug reported used for: Cystic Fibrosis	germline	curation	PubMed (2) [See all records that cite these PMIDs] 23891399, 22992668 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000783069

PharmGKB

reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)

drug response
(Mar 24, 2021)
Condition: ivacaftor response - Efficacy
Drug reported used for: Cystic Fibrosis

germline

curation

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	curation

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, SCV000783069.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (2)

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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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