NM_000492.3(CFTR):c.3773dupT (p.Leu1258Phefs) AND Cystic fibrosis

Clinical significance:Pathogenic (Last evaluated: Mar 28, 2013)

Review status:(3/4)3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000046980.4

Allele description [Variation Report for NM_000492.3(CFTR):c.3773dupT (p.Leu1258Phefs)]

Gene:
CFTR:cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) [Gene - OMIM]
Variant type:
Duplication
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.3(CFTR):c.3773dupT (p.Leu1258Phefs)
Other names:
3905insT
HGVS:
  • NC_000007.14:g.117642493dupT
  • NG_016465.3:g.181710dupT
  • NM_000492.3:c.3773dupT
  • NP_000483.3:p.Leu1258Phefs
  • NC_000007.13:g.117282547dupT
  • NG_016465.1:g.167531_167532insT
  • NG_016465.3:g.181710_181711insT
  • NM_000492.3:c.3773_3774insT
  • p.Leu1258PhefsX7
Links:
dbSNP: 121908789
NCBI 1000 Genomes Browser:
rs121908789
Molecular consequence:
  • NM_000492.3:c.3773_3774insT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cystic fibrosis (CF)
Synonyms:
Mucoviscidosis; Classic Cystic Fibrosis
Identifiers:
MedGen: C0010674; OMIM: 219700; Orphanet: 586
Age of onset:
Neonatal/infancy
Prevalence:

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000071482CFTR2 - CFTR2reviewed by expert panelpathogenic
(Mar 28, 2013)
germlineliterature only

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

Citation Link,

SCV000074993Invitae classified by single submitternot providedgermlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Description

Mutation analysis was conducted as part of the CFTR2 project and found:
- patients carrying the mutation in trans with another CF-causing mutation had an average sweat chloride >60 mEq/L
- testing of the mutation in a cell-based system indicated <10% function when compared to wild-type
- no evidence of non-penetrance of the mutation

This detailed medical and genetics information is complicated and potentially confusing. We encourage you to discuss this information with your doctor, a genetic counselor, or a CF specialist. The information shown is for educational purposes only and is not intended for diagnostic use. You should not make any medical or reproductive decisions or change your health behaviour based on this information without talking to your doctor. To find a genetic counselor near you, please visit http://www.nsgc.org. To find a CF care center near you, please visit http://cftr2.org.

SCV000071482

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

Sosnay PR, Siklosi KR, Van Goor F, Kaniecki K, Yu H, Sharma N, Ramalho AS, Amaral MD, Dorfman R, Zielenski J, Masica DL, Karchin R, Millen L, Thomas PJ, Patrinos GP, Corey M, Lewis MH, Rommens JM, Castellani C, Penland CM, Cutting GR.

Nat Genet. 2013 Oct;45(10):1160-7. doi: 10.1038/ng.2745. Epub 2013 Aug 25.

PubMed [citation]
PMID:
23974870
PMCID:
PMC3874936

Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

Castellani C, Cuppens H, Macek M Jr, Cassiman JJ, Kerem E, Durie P, Tullis E, Assael BM, Bombieri C, Brown A, Casals T, Claustres M, Cutting GR, Dequeker E, Dodge J, Doull I, Farrell P, Ferec C, Girodon E, Johannesson M, Kerem B, Knowles M, et al.

J Cyst Fibros. 2008 May;7(3):179-96. doi: 10.1016/j.jcf.2008.03.009. Review.

PubMed [citation]
PMID:
18456578
PMCID:
PMC2810954
See all PubMed Citations (3)

Details of each submission

From CFTR2 - CFTR2, SCV000071482.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Cystic fibrosis on the basis of clinical, functional, and penetrance analysis, as described in www.cftr2.org

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Invitae , SCV000074993.2

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2014

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