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NM_000492.4(CFTR):c.1616_1617dup (p.Val540Ter) AND Cystic fibrosis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 29, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001009444.1

Allele description [Variation Report for NM_000492.4(CFTR):c.1616_1617dup (p.Val540Ter)]

NM_000492.4(CFTR):c.1616_1617dup (p.Val540Ter)

Genes:
CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
LOC111674475:CFTR intron 11 enhancer [Gene]
Variant type:
Microsatellite
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.4(CFTR):c.1616_1617dup (p.Val540Ter)
HGVS:
  • NC_000007.14:g.117587768TA[3]
  • NC_000007.14:g.117587768_117587769TA[3]
  • NG_016465.4:g.126985TA[3]
  • NG_056131.3:g.723TA[3]
  • NM_000492.4:c.1616_1617dupMANE SELECT
  • NP_000483.3:p.Val540Ter
  • LRG_663t1:c.1616_1617dup
  • LRG_663:g.126985TA[3]
  • NC_000007.13:g.117227822TA[3]
  • NM_000492.3:c.1616_1617dup
Protein change:
V540*
Links:
dbSNP: rs1584810167
NCBI 1000 Genomes Browser:
rs1584810167
Molecular consequence:
  • NM_000492.4:c.1616_1617dup - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Cystic fibrosis (CF)
Synonyms:
Mucoviscidosis
Identifiers:
MONDO: MONDO:0009061; 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
SCV001169486CFTR-France
criteria provided, single submitter

(Claustres M et al. (Hum Mutat 2017))		Pathogenic
(Jan 29, 2018) 		germlinecuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.

Claustres M, Thèze C, des Georges M, Baux D, Girodon E, Bienvenu T, Audrezet MP, Dugueperoux I, Férec C, Lalau G, Pagin A, Kitzis A, Thoreau V, Gaston V, Bieth E, Malinge MC, Reboul MP, Fergelot P, Lemonnier L, Mekki C, Fanen P, Bergougnoux A, et al.

Hum Mutat. 2017 Oct;38(10):1297-1315. doi: 10.1002/humu.23276. Epub 2017 Jun 28.

PubMed [citation]
PMID:
28603918

Details of each submission

From CFTR-France, SCV001169486.1

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

Last Updated: Apr 23, 2022