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NM_000492.4(CFTR):c.3220T>C (p.Phe1074Leu) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 10, 2020
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:
RCV001284616.1

Allele description [Variation Report for NM_000492.4(CFTR):c.3220T>C (p.Phe1074Leu)]

NM_000492.4(CFTR):c.3220T>C (p.Phe1074Leu)

Genes:
CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
LOC111674472:DNase I hypersensitive sites in introns 16 and 17a of CFTR [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.4(CFTR):c.3220T>C (p.Phe1074Leu)
HGVS:
  • NC_000007.14:g.117611661T>C
  • NG_016465.4:g.150878T>C
  • NG_056128.2:g.4715T>C
  • NM_000492.4:c.3220T>CMANE SELECT
  • NP_000483.3:p.Phe1074Leu
  • LRG_663t1:c.3220T>C
  • LRG_663:g.150878T>C
  • NC_000007.13:g.117251715T>C
  • NG_056128.1:g.4715T>C
  • NM_000492.3:c.3220T>C
Protein change:
F1074L
Links:
dbSNP: rs1258481099
NCBI 1000 Genomes Browser:
rs1258481099
Molecular consequence:
  • NM_000492.4:c.3220T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001470495Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Likely pathogenic
(Apr 10, 2020) 		unknownclinical testing

PubMed (5)
[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

High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes.

Casals T, Ramos MD, Giménez J, Larriba S, Nunes V, Estivill X.

Hum Genet. 1997 Dec;101(3):365-70.

PubMed [citation]
PMID:
9439669

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
See all PubMed Citations (5)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001470495.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

The best available variant frequency is uninformative because there are too few occurrences in population data. Found in at least one patient with expected phenotype for this gene. Predicted to have a damaging effect on the protein. Assessment of experimental evidence suggests this variant results in abnormal protein function.

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

Last Updated: Jul 7, 2024