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NM_000492.3(CFTR):c.3718-2477C>T AND not specified

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 13, 2017
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:
RCV000507372.13

Allele description [Variation Report for NM_000492.3(CFTR):c.3718-2477C>T]

NM_000492.3(CFTR):c.3718-2477C>T

Genes:
CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
LOC113633877:CFTR intron 19 DNase I hypersensitive site [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.3(CFTR):c.3718-2477C>T
Other names:
3849+10kbC->T; 3849+10kbC>T
HGVS:
  • NC_000007.14:g.117639961C>T
  • NG_016465.4:g.179178C>T
  • NG_062449.1:g.167C>T
  • NM_000492.4:c.3718-2477C>TMANE SELECT
  • LRG_663t1:c.3718-2477C>T
  • LRG_663:g.179178C>T
  • NC_000007.13:g.117280015C>T
  • c.3717+12191C>T
  • NM_000492.3:c.3718-2477C>T
Nucleotide change:
3849+10KB, C-T
Links:
Cystic Fibrosis Mutation Database: 518; Genetic Testing Registry (GTR): GTR000500233; OMIM: 602421.0062; dbSNP: rs75039782
NCBI 1000 Genomes Browser:
rs75039782
Molecular consequence:
  • NM_000492.4:c.3718-2477C>T - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000917222Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Pathogenic
(Dec 13, 2017) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations.

Highsmith WE, Burch LH, Zhou Z, Olsen JC, Boat TE, Spock A, Gorvoy JD, Quittel L, Friedman KJ, Silverman LM, et al.

N Engl J Med. 1994 Oct 13;331(15):974-80.

PubMed [citation]
PMID:
7521937

Clinical spectrum in homozygotes and compound heterozygotes inheriting cystic fibrosis mutation 3849 + 10kbC > T: significance for geneticists.

Gilbert F, Li Z, Arzimanoglou II, Bialer M, Denning C, Gorvoy J, Honorof J, Ores C, Quittell L, Arzimanoglou I, et al.

Am J Med Genet. 1995 Sep 25;58(4):356-9. Erratum in: Am J Med Genet 1996 Aug 23;64(3):527.

PubMed [citation]
PMID:
8533846
See all PubMed Citations (5)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000917222.2

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

Description

Variant summary: The CFTR c.3718-2477C>T variant involves the alteration of a non-conserved deep intronic nucleotide. One in silico tool predicts a disease-causing outcome for this variant. 5/5 splice prediction tools predict a significant impact on splicing. Functional analysis confirms that this variant is associated with an abnormally spliced product (Highsmith_1994). This variant was found in 2/30924 control chromosomes (gnomAD) at a frequency of 0.0000647, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). The variant has been reported in multiple CF patients with a mild phenotype, including 3 homozygotes (Duguproux_2005, Gilbert_1995) and was included in the ACMG CFTR list (Watson_2004). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.

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

Last Updated: Jun 9, 2024