NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) AND ivacaftor / tezacaftor response - Efficacy - ClinVar

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NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) AND ivacaftor / tezacaftor 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:: RCV001787371.2

Allele description

NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)

Genes:

CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
CFTR-AS1:CFTR antisense RNA 1 [Gene - HGNC]

Variant type:

Deletion

Cytogenetic location:

7q31.2

Genomic location:

Preferred name:

NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)

Other names:

F508del; deltaF508; F508delF; DF508; Phe508del; DeltaF508; [delta]F508

HGVS:

NC_000007.13:g.117199645_117199647del
NC_000007.14:g.117559592_117559594del
NG_016465.4:g.98809_98811del
NM_000492.4:c.1521_1523delMANE SELECT
NP_000483.3:p.Phe508del
NP_000483.3:p.Phe508del
LRG_663t1:c.1521_1523del
LRG_663:g.98809_98811del
LRG_663p1:p.Phe508del
NC_000007.13:g.117199645_117199647del
NC_000007.13:g.117199646_117199648del
NC_000007.13:g.117199646_117199648del
NC_000007.13:g.117199646_117199648delCTT
NC_000007.14:g.117559592_117559594del
NG_016465.1:g.84630_84632delCTT
NM_000492.3:c.1520_1522del
NM_000492.3:c.1520_1522delTCT
NM_000492.3:c.1521_1523del
NM_000492.3:c.1521_1523delCTT
NM_000492.4:c.1520_1522delMANE SELECT
NM_000492.4:c.1520_1522delTCTMANE SELECT
NM_000492.4:c.1521_1523delCTTMANE SELECT

Protein change:

PHE508DEL

Links:

PharmGKB Clinical Annotation: 981755820; OMIM: 602421.0001; dbSNP: rs113993960

NCBI 1000 Genomes Browser:

rs113993960

Molecular consequence:

NM_000492.4:c.1521_1523del - inframe_deletion - [Sequence Ontology: SO:0001822]

Functional consequence:

loss_of_function_variant [Sequence Ontology: SO:0002054]

Condition(s)

Name:: ivacaftor / tezacaftor response - Efficacy
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002031251	PharmGKB	reviewed by expert panel (Pharmacogenomics knowledge for personalized medicine)	drug response (Mar 24, 2021) Condition: ivacaftor / tezacaftor response - Efficacy Drug reported used for: Cystic Fibrosis	germline	curation	PubMed (4) [See all records that cite these PMIDs] 28930490, 29099333, 29099344, 22992668 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002031251

PharmGKB

reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)

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

germline

curation

PubMed (4)
[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

Tezacaftor/Ivacaftor in Subjects with Cystic Fibrosis and F508del/F508del-CFTR or F508del/G551D-CFTR.

Donaldson SH, Pilewski JM, Griese M, Cooke J, Viswanathan L, Tullis E, Davies JC, Lekstrom-Himes JA, Wang LT; VX11-661-101 Study Group..

Am J Respir Crit Care Med. 2018 Jan 15;197(2):214-224. doi: 10.1164/rccm.201704-0717OC.

PubMed [citation]

PMID:: 28930490
PMCID:: PMC5768901

Tezacaftor-Ivacaftor in Residual-Function Heterozygotes with Cystic Fibrosis.

Rowe SM, Daines C, Ringshausen FC, Kerem E, Wilson J, Tullis E, Nair N, Simard C, Han L, Ingenito EP, McKee C, Lekstrom-Himes J, Davies JC.

N Engl J Med. 2017 Nov 23;377(21):2024-2035. doi: 10.1056/NEJMoa1709847. Epub 2017 Nov 3.

PubMed [citation]

PMID:: 29099333
PMCID:: PMC6472479

See all PubMed Citations (4)

Details of each submission

From PharmGKB, SCV002031251.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (4)

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: Aug 26, 2023

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