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NM_000492.4(CFTR):c.1584+53_1584+63dup AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 28, 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:
RCV002476011.2

Allele description [Variation Report for NM_000492.4(CFTR):c.1584+53_1584+63dup]

NM_000492.4(CFTR):c.1584+53_1584+63dup

Genes:
CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
CFTR-AS1:CFTR antisense RNA 1 [Gene - HGNC]
Variant type:
Duplication
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.4(CFTR):c.1584+53_1584+63dup
HGVS:
  • NC_000007.14:g.117559708_117559718dup
  • NG_016465.4:g.98925_98935dup
  • NM_000492.4:c.1584+53_1584+63dupMANE SELECT
  • LRG_663t1:c.1584+53_1584+63dup
  • LRG_663:g.98925_98935dup
  • NC_000007.13:g.117199759_117199760insTACCCAAATTA
  • NC_000007.13:g.117199762_117199772dup
  • NM_000492.3:c.1584+51_1584+61dupTACCCAAATTA
  • NM_000492.3:c.1584+53_1584+63dup
  • NM_000492.3:c.1584+53_1584+63dupCCCAAATTATA
  • p.?
Links:
dbSNP: rs397508232
NCBI 1000 Genomes Browser:
rs397508232
Molecular consequence:
  • NM_000492.4:c.1584+53_1584+63dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000601050Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Likely benign
(Sep 28, 2022) 		unknownclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Vitamin A status and its determinants in patients with cystic fibrosis.

Sapiejka E, Krzyżanowska P, Walkowiak D, Wenska-Chyży E, Szczepanik M, Cofta S, Pogorzelski A, Skorupa W, Walkowiak J.

Acta Sci Pol Technol Aliment. 2017 Jul-Sep;16(3):345-354. doi: 10.17306/J.AFS.0473.

PubMed [citation]
PMID:
29055982

Vitamin E status and its determinants in patients with cystic fibrosis.

Sapiejka E, Krzyżanowska-Jankowska P, Wenska-Chyży E, Szczepanik M, Walkowiak D, Cofta S, Pogorzelski A, Skorupa W, Walkowiak J.

Adv Med Sci. 2018 Sep;63(2):341-346. doi: 10.1016/j.advms.2018.04.001. Epub 2018 Aug 3.

PubMed [citation]
PMID:
30081288
See all PubMed Citations (6)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000601050.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024