NM_000492.4(CFTR):c.3963+1G>C AND Cystic fibrosis

Clinical significance:Likely pathogenic (Last evaluated: Dec 2, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000411114.1

Allele description [Variation Report for NM_000492.4(CFTR):c.3963+1G>C]

NM_000492.4(CFTR):c.3963+1G>C

Gene:
CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.4(CFTR):c.3963+1G>C
HGVS:
  • NC_000007.14:g.117652932G>C
  • NG_016465.4:g.192149G>C
  • NM_000492.3:c.3963+1G>C
  • NM_000492.4:c.3963+1G>CMANE SELECT
  • LRG_663t1:c.3963+1G>C
  • LRG_663:g.192149G>C
  • NC_000007.13:g.117292986G>C
Links:
dbSNP: rs672601314
NCBI 1000 Genomes Browser:
rs672601314
Molecular consequence:
  • NM_000492.3:c.3963+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_000492.4:c.3963+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000485398Counsylcriteria provided, single submitter
Likely pathogenic
(Dec 2, 2015)
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, SCV000485398.1

#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: Oct 25, 2021

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