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NM_000492.3(CFTR):c.870-1113_870-1110delGAAT AND Cystic fibrosis

Germline classification:
not provided (1 submission)
Last evaluated:
Feb 1, 2013
Review status:
no classification provided
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:
RCV000047275.2

Allele description

NM_000492.3(CFTR):c.870-1113_870-1110delGAAT

Gene:
CFTR:cystic fibrosis transmembrane conductance regulator [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.3(CFTR):c.870-1113_870-1110delGAAT
HGVS:
  • NC_000007.14:g.117538987_117538990delGAAT
  • NG_016465.4:g.78204_78207delGAAT
  • NM_000492.3:c.870-1113_870-1110delGAAT
  • NC_000007.13:g.117179041_117179044delGAAT
Links:
dbSNP: rs397508809
NCBI 1000 Genomes Browser:
rs397508809
Molecular consequence:
  • NM_000492.3:c.870-1113_870-1110delGAAT - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Cystic fibrosis (CF)
Identifiers:
MedGen: C0010674; Orphanet: 586; OMIM: 219700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000075288Invitae,
no classification provided
not providedgermlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Faà V, Incani F, Meloni A, Corda D, Masala M, Baffico AM, Seia M, Cao A, Rosatelli MC.

J Biol Chem. 2009 Oct 30;284(44):30024-31. doi: 10.1074/jbc.M109.032623. Epub 2009 Sep 15.

PubMed [citation]
PMID:
19759008
PMCID:
PMC2781556

Details of each submission

From Invitae,, SCV000075288.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 7, 2017