NM_000492.3(CFTR):c.2854delA (p.Met952Cysfs) AND Cystic fibrosis

Clinical significance:Likely pathogenic (Last evaluated: Jul 7, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000409306.1

Allele description

NM_000492.3(CFTR):c.2854delA (p.Met952Cysfs)

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.2854delA (p.Met952Cysfs)
HGVS:
  • NC_000007.14:g.117603728delA
  • NG_016465.4:g.142945delA
  • NM_000492.3:c.2854delA
  • NP_000483.3:p.Met952Cysfs
  • NC_000007.13:g.117243782delA
Links:
dbSNP: rs1057517032
NCBI 1000 Genomes Browser:
rs1057517032
Molecular consequence:
  • NM_000492.3:c.2854delA - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000486633Counsylcriteria provided, single submitter
Likely pathogenic
(Jul 7, 2016)
unknownclinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000486633.1

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

Last Updated: Mar 30, 2018