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NM_000492.4(CFTR):c.2989-3C>G AND Cystic fibrosis

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Nov 5, 2018
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:
RCV000577459.2

Allele description [Variation Report for NM_000492.4(CFTR):c.2989-3C>G]

NM_000492.4(CFTR):c.2989-3C>G

Genes:
CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
LOC111674472:DNase I hypersensitive sites in introns 16 and 17a of CFTR [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.4(CFTR):c.2989-3C>G
HGVS:
  • NC_000007.14:g.117610516C>G
  • NG_016465.4:g.149733C>G
  • NG_056128.2:g.3570C>G
  • NM_000492.4:c.2989-3C>GMANE SELECT
  • LRG_663t1:c.2989-3C>G
  • LRG_663:g.149733C>G
  • NC_000007.13:g.117250570C>G
  • NG_056128.1:g.3570C>G
  • NM_000492.3:c.2989-3C>G
Links:
dbSNP: rs397508471
NCBI 1000 Genomes Browser:
rs397508471
Molecular consequence:
  • NM_000492.4:c.2989-3C>G - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000679034ClinVar Staff, National Center for Biotechnology Information (NCBI)
no classification provided
not providedgermlineliterature only

PubMed (1)
[See all records that cite this PMID]

SCV000886376Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Uncertain significance
(Nov 5, 2018) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Spectrum of CFTR mutations on Réunion Island: impact on neonatal screening.

Bienvenu T, Viel M, Leroy C, Cartault F, Lesure JF, Renouil M.

Hum Biol. 2005 Oct;77(5):705-14.

PubMed [citation]
PMID:
16596947

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000679034.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Mendelics, SCV000886376.2

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

Last Updated: Jun 17, 2024