NM_000492.3(CFTR):c.4242+2T>C AND Cystic fibrosis

Clinical significance:Likely pathogenic (Last evaluated: Aug 18, 2011)

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

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000029539.1

Allele description [Variation Report for NM_000492.3(CFTR):c.4242+2T>C]

Gene:
CFTR:cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.3(CFTR):c.4242+2T>C
HGVS:
  • NC_000007.14:g.117665566T>C
  • NG_016465.3:g.204783T>C
  • NM_000492.3:c.4242+2T>C
  • NC_000007.13:g.117305620T>C
  • NG_016465.1:g.190604T>C
Links:
dbSNP: 193922526
NCBI 1000 Genomes Browser:
rs193922526
Molecular consequence:
  • NM_000492.3:c.4242+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000052191LabCorpclassified by single submitterlikely pathogenic
(Aug 18, 2011)
germlineliterature only

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedliterature only

Details of each submission

From LabCorp, SCV000052191.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedBloodassert pathogenicitynot providednot providednot providednot provided

Last Updated: Sep 12, 2014

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