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NM_000492.4(CFTR):c.156_163dup (p.Arg55fs) AND Cystic fibrosis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 2, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV003389119.1

Allele description [Variation Report for NM_000492.4(CFTR):c.156_163dup (p.Arg55fs)]

NM_000492.4(CFTR):c.156_163dup (p.Arg55fs)

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.156_163dup (p.Arg55fs)
HGVS:
  • NC_000007.14:g.117504355_117504362dup
  • NG_016465.4:g.43572_43579dup
  • NM_000492.4:c.156_163dupMANE SELECT
  • NP_000483.3:p.Arg55Asnfs
  • NP_000483.3:p.Arg55fs
  • LRG_663t1:c.156_163dup
  • LRG_663:g.43572_43579dup
  • LRG_663p1:p.Arg55Asnfs
  • NC_000007.13:g.117144409_117144416dup
  • NM_000492.3:c.156_163dup
  • NM_000492.3:c.156_163dupATTGGAAA
Protein change:
R55fs
Molecular consequence:
  • NM_000492.4:c.156_163dup - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004101095Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
no assertion criteria provided
Pathogenic
(Nov 2, 2023) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Zotz-Klimas Genetics Lab, MVZ Zotz Klimas, SCV004101095.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 11, 2023