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NM_000492.3(CFTR):c.3976delT (p.Ser1326Leufs) 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:
RCV000047049.2

Allele description

NM_000492.3(CFTR):c.3976delT (p.Ser1326Leufs)

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.3976delT (p.Ser1326Leufs)
HGVS:
  • NC_000007.14:g.117664700delT
  • NG_016465.4:g.203917delT
  • NM_000492.3:c.3976delT
  • NP_000483.3:p.Ser1326Leufs
  • NC_000007.13:g.117304754delT
Links:
dbSNP: rs397508654
NCBI 1000 Genomes Browser:
rs397508654
Molecular consequence:
  • NM_000492.3:c.3976delT - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000075062Invitae,
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

Detection of 100% of the CFTR mutations in 63 CF families from Tyrol.

Stuhrmann M, Dörk T, Frühwirth M, Golla A, Skawran B, Antonin W, Ebhardt M, Loos A, Ellemunter H, Schmidtke J.

Clin Genet. 1997 Oct;52(4):240-6.

PubMed [citation]
PMID:
9383031

Details of each submission

From Invitae,, SCV000075062.2

#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