• under review

CFTR:c.948delT (p.Phe316Leufs) AND CFTR-related disorders

Clinical significance:pathogenic (Last evaluated: Feb 1, 2013)

Review status:(1/4)1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
under review
Accession:
RCV000047295.1

Allele description [Variation Report for ]

Gene:
CFTR:cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) [Gene - OMIM]
Variant type:
Deletion
Cytogenetic location:
7q31.2
Genomic location:
Chr7:117180232 (on Assembly GRCh37)
Preferred name:
CFTR:c.948delT (p.Phe316Leufs)
Other names:
1078delT
HGVS:
  • NC_000007.13:g.117180232delT
  • NG_016465.3:g.79395delT
  • NM_000492.3:c.948delT
  • NG_016465.1:g.65216delT
  • NP_000483.3:p.Phe316Leufs
Links:
OMIM: 602421.0059; dbSNP: 121908744
NCBI 1000 Genomes Browser:
rs121908744
Molecular consequence:
  • NM_000492.3:c.948delT - frameshift - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
CFTR-related disorders
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000075308Invitae, Inc.classified by single submitterpathogenic
(Feb 1, 2013)
germlinecuration

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

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

Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.

Dörk T, Dworniczak B, Aulehla-Scholz C, Wieczorek D, Böhm I, Mayerova A, Seydewitz HH, Nieschlag E, Meschede D, Horst J, Pander HJ, Sperling H, Ratjen F, Passarge E, Schmidtke J, Stuhrmann M.

Hum Genet. 1997 Sep;100(3-4):365-77.

PubMed [citation]
PMID:
9272157
See all PubMed Citations (3)

Details of each submission

From Invitae, Inc., SCV000075308.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 4, 2013

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