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NM_000492.4(CFTR):c.1766+1G>A AND CFTR-related disorder

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jul 30, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001027908.9

Allele description [Variation Report for NM_000492.4(CFTR):c.1766+1G>A]

NM_000492.4(CFTR):c.1766+1G>A

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.1766+1G>A
Other names:
1898+1G>A; 1898+1G->A
HGVS:
  • NC_000007.14:g.117590440G>A
  • NG_016465.4:g.129657G>A
  • NM_000492.4:c.1766+1G>AMANE SELECT
  • LRG_663t1:c.1766+1G>A
  • LRG_663:g.129657G>A
  • NC_000007.13:g.117230494G>A
  • NG_016465.3:g.129657G>A
  • NM_000492.3(CFTR):c.1766+1G>A
  • NM_000492.3:c.1766+1G>A
Nucleotide change:
IVS12, G-A, +1
Links:
Genetic Testing Registry (GTR): GTR000500233; OMIM: 602421.0064; dbSNP: rs121908748
NCBI 1000 Genomes Browser:
rs121908748
Molecular consequence:
  • NM_000492.4:c.1766+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
CFTR-related disorder (CFTR-RD)
Synonyms:
CFTR-related disorders; CFTR-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001190631Natera, Inc.
no assertion criteria provided
Pathogenic
(May 20, 2019) 		germlineclinical testing

SCV005360495PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Jul 30, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001190631.1

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

From PreventionGenetics, part of Exact Sciences, SCV005360495.1

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

Description

The CFTR c.1766+1G>A variant is predicted to disrupt the GT donor site and interfere with normal splicing. This variant, also referred to as c.1898+1G>A using legacy nomenclature, has been reported in the compound heterozygous state in patients with cystic fibrosis (Strong et al. 1992. PubMed ID: 1284540; Castellani et al. 2008. PubMed ID: 18456578). RNA analysis from patient nasal epithelium indicated that this variant results in skipping of exon 12 (Strong et al. 1992. PubMed ID: 1284540). This variant is reported in 0.0070% of alleles in individuals of European (Non-Finnish) descent in gnomAD. In summary, the c.1766+1G>A variant is categorized as pathogenic.

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

Last Updated: Oct 26, 2024