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NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) AND not specified

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 2, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001000022.8

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)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000602968ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Pathogenic
(Jul 2, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000602968.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The CFTR p.Phe508del (F508del) variant is the most common pathogenic CFTR variant that has been reported in Caucasians (Sosnay 2013, CFTR2 database). This variant is considered to cause severe cystic fibrosis when identified with another severe pathogenic variant on the opposite chromosome. REFERENCES CFTR2 database: http://cftr2.org/ Sosnay P et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet. 2013;45(10):1160-7.

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

Last Updated: Jun 3, 2023