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NM_000492.4(CFTR):c.4243-16A>G AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 27, 2023
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:
RCV003736905.1

Allele description [Variation Report for NM_000492.4(CFTR):c.4243-16A>G]

NM_000492.4(CFTR):c.4243-16A>G

Genes:
CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
LOC111674477:CFTR intron 23 enhancer [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.4(CFTR):c.4243-16A>G
HGVS:
  • NC_000007.14:g.117666892A>G
  • NG_016465.4:g.206109A>G
  • NG_056133.2:g.1298A>G
  • NM_000492.4:c.4243-16A>GMANE SELECT
  • LRG_663t1:c.4243-16A>G
  • LRG_663:g.206109A>G
  • NC_000007.13:g.117306946A>G
  • NM_000492.3:c.4243-16A>G
Links:
dbSNP: rs780125251
NCBI 1000 Genomes Browser:
rs780125251
Molecular consequence:
  • NM_000492.4:c.4243-16A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004565240ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)		Uncertain significance
(Jul 27, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV004565240.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The CFTR c.4243-16A>G variant (rs780125251) is reported in the CFTR France database in an individual with pancreatitis and an individual with CBAVD (see link). This variant is also reported in ClinVar (Variation ID: 632746). It is found in the general population with an overall allele frequency of 0.01% (31/249724 alleles) in the Genome Aggregation Database. This is an intronic variant in a weakly conserved nucleotide, but computational analyses (Alamut Visual Plus v.1.5.1) predict that this variant may impact splicing by weakening the nearby canonical acceptor splice site. Due to limited information, the clinical significance of this variant is uncertain at this time. References: CFTR France database link: https://cftr.iurc.montp.inserm.fr/cgi-bin/affiche.cgi?variant=c.4243-16A%3EG&provenance=0

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 13, 2025