NM_000492.4(CFTR):c.3851_3852dup (p.Ala1285fs) AND Cystic fibrosis

Clinical significance:Likely pathogenic (Last evaluated: Oct 27, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000412356.1

Allele description [Variation Report for NM_000492.4(CFTR):c.3851_3852dup (p.Ala1285fs)]

NM_000492.4(CFTR):c.3851_3852dup (p.Ala1285fs)

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.3851_3852dup (p.Ala1285fs)
HGVS:
  • NC_000007.14:g.117642571_117642572dup
  • NG_016465.4:g.181788_181789dup
  • NM_000492.4:c.3851_3852dupMANE SELECT
  • NP_000483.3:p.Ala1285fs
  • LRG_663:g.181788_181789dup
  • NC_000007.13:g.117282625_117282626dup
  • NM_000492.3:c.3851_3852dupAA
Protein change:
A1285fs
Links:
dbSNP: rs1057517404
NCBI 1000 Genomes Browser:
rs1057517404
Molecular consequence:
  • NM_000492.4:c.3851_3852dup - 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
SCV000487225Counsylcriteria provided, single submitter
Likely pathogenic
(Oct 27, 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, SCV000487225.1

#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: Nov 27, 2021

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