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NM_000492.4(CFTR):c.2490+4_2490+6dup AND Cystic fibrosis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 17, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000665180.1

Allele description [Variation Report for NM_000492.4(CFTR):c.2490+4_2490+6dup]

NM_000492.4(CFTR):c.2490+4_2490+6dup

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.2490+4_2490+6dup
HGVS:
  • NC_000007.14:g.117592661_117592663dup
  • NG_016465.4:g.131878_131880dup
  • NM_000492.4:c.2490+4_2490+6dupMANE SELECT
  • LRG_663:g.131878_131880dup
  • NC_000007.13:g.117232715_117232717dup
  • NM_000492.3:c.2490+4_2490+6dupGGT
Links:
dbSNP: rs1554389497
NCBI 1000 Genomes Browser:
rs1554389497
Molecular consequence:
  • NM_000492.4:c.2490+4_2490+6dup - intron variant - [Sequence Ontology: SO:0001627]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000789253Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Jan 17, 2017) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Counsyl, SCV000789253.1

#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: Apr 23, 2022