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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 15, 2022
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:
RCV002490332.1

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:
Bronchiectasis with or without elevated sweat chloride 1 (BESC1)
Synonyms:
Cystic Fibrosis-Like Syndrome
Identifiers:
MONDO: MONDO:0008887; MedGen: C2749757; Orphanet: 60033; OMIM: 211400
Name:
Cystic fibrosis (CF)
Synonyms:
Mucoviscidosis
Identifiers:
MONDO: MONDO:0009061; MedGen: C0010674; Orphanet: 586; OMIM: 219700
Name:
Hereditary pancreatitis (PCTT)
Synonyms:
Hereditary chronic pancreatitis
Identifiers:
MONDO: MONDO:0008185; MedGen: C0238339; Orphanet: 676; OMIM: 167800
Name:
Congenital bilateral aplasia of vas deferens from CFTR mutation (CBAVD)
Identifiers:
MONDO: MONDO:0010178; MedGen: C0403814; Orphanet: 48; OMIM: 277180

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002810876Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 15, 2022) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002810876.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 26, 2023