NM_000492.4(CFTR):c.850dup (p.Met284fs) AND CFTR-related disorders

Clinical significance:Pathogenic (Last evaluated: May 20, 2019)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001027912.1

Allele description [Variation Report for NM_000492.4(CFTR):c.850dup (p.Met284fs)]

NM_000492.4(CFTR):c.850dup (p.Met284fs)

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.850dup (p.Met284fs)
HGVS:
  • NC_000007.14:g.117536654dup
  • NG_016465.4:g.75871dup
  • NM_000492.3:c.850dup
  • NM_000492.4:c.850dupMANE SELECT
  • NP_000483.3:p.Met284fs
  • NP_000483.3:p.Met284fs
  • LRG_663t1:c.850dup
  • LRG_663:g.75871dup
  • LRG_663p1:p.Met284fs
  • NC_000007.13:g.117176708dup
  • NM_000492.3:c.850dupA
  • p.Met284AsnfsX3
Protein change:
M284fs
Links:
dbSNP: rs786204693
NCBI 1000 Genomes Browser:
rs786204693
Molecular consequence:
  • NM_000492.3:c.850dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_000492.4:c.850dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
CFTR-related disorders (CFTR-RD)
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001190635Natera, Inc.no assertion criteria providedPathogenic
(May 20, 2019)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001190635.1

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

Last Updated: Oct 25, 2021

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