NM_000492.4(CFTR):c.4035_4038dup (p.Ser1347fs) AND Cystic fibrosis

Clinical significance:Likely pathogenic (Last evaluated: Jan 4, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000664926.1

Allele description [Variation Report for NM_000492.4(CFTR):c.4035_4038dup (p.Ser1347fs)]

NM_000492.4(CFTR):c.4035_4038dup (p.Ser1347fs)

Gene:
CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.4(CFTR):c.4035_4038dup (p.Ser1347fs)
HGVS:
  • NC_000007.14:g.117664759_117664762dup
  • NG_016465.4:g.203976_203979dup
  • NM_000492.4:c.4035_4038dupMANE SELECT
  • NP_000483.3:p.Ser1347fs
  • LRG_663:g.203976_203979dup
  • NC_000007.13:g.117304813_117304816dup
  • NM_000492.3:c.4035_4038dupCCTA
Protein change:
S1347fs
Links:
dbSNP: rs1554397497
NCBI 1000 Genomes Browser:
rs1554397497
Molecular consequence:
  • NM_000492.4:c.4035_4038dup - frameshift variant - [Sequence Ontology: SO:0001589]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000788963Counsylcriteria provided, single submitter
Likely pathogenic
(Jan 4, 2017)
unknownclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.

Zińôtkiewicz E, Rutkiewicz E, Pogorzelski A, Klimek B, Voelkel K, Witt M.

PLoS One. 2014;9(2):e89094. doi: 10.1371/journal.pone.0089094. Erratum in: PLoS One. 2014;9(8):e105738.

PubMed [citation]
PMID:
24586523
PMCID:
PMC3935850

Details of each submission

From Counsyl, SCV000788963.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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