ClinVar Genomic variation as it relates to human health
NM_000492.4(CFTR):c.1585-1G>A
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_000492.4(CFTR):c.1585-1G>A
Variation ID: 7112 Accession: VCV000007112.98
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 7q31.2 7: 117587738 (GRCh38) [ NCBI UCSC ] 7: 117227792 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 4, 2013 Jun 17, 2024 Mar 3, 2004 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_000492.4:c.1585-1G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
splice acceptor NC_000007.14:g.117587738G>A NC_000007.13:g.117227792G>A NG_016465.4:g.126955G>A NG_056131.3:g.693G>A LRG_663:g.126955G>A LRG_663t1:c.1585-1G>A - Protein change
- -
- Other names
-
1717-1G->A
1717-1>A
IVS10, G-A, -1
1717-1G>A
- Canonical SPDI
- NC_000007.14:117587737:G:A
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
0.00040 (A)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
The Genome Aggregation Database (gnomAD), exomes 0.00007
The Genome Aggregation Database (gnomAD) 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00008
Exome Aggregation Consortium (ExAC) 0.00009
1000 Genomes Project 30x 0.00031
1000 Genomes Project 0.00040
- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
---|---|---|---|---|---|---|
HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
CFTR | - | - |
GRCh38 GRCh37 |
3825 | 5200 | |
LOC111674475 | - | - | - | GRCh38 | - | 145 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Pathogenic (14) |
practice guideline
|
Mar 3, 2004 | RCV000007532.41 | |
Pathogenic (10) |
criteria provided, multiple submitters, no conflicts
|
Nov 10, 2023 | RCV000224919.33 | |
Pathogenic (1) |
criteria provided, single submitter
|
- | RCV001004462.8 | |
CFTR-related disorder
|
Pathogenic (2) |
criteria provided, single submitter
|
Sep 1, 2023 | RCV001027893.9 |
Pathogenic (1) |
criteria provided, single submitter
|
Apr 14, 2022 | RCV002496295.8 | |
Pathogenic (1) |
criteria provided, single submitter
|
Mar 20, 2024 | RCV003473004.2 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
---|---|---|---|---|---|
pathogenic
(Mar 03, 2004)
|
practice guideline
Method: curation
|
Cystic fibrosis
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
|
American College of Medical Genetics and Genomics (ACMG)
Study: The ACMG recommended carrier screening panel
Accession: SCV000071393.2 First in ClinVar: Jun 04, 2013 Last updated: Mar 24, 2015 |
Comment:
Converted during submission to Pathogenic.
|
|
Pathogenic
(Mar 17, 2017)
|
reviewed by expert panel
Method: research
|
Cystic fibrosis
Affected status: yes
Allele origin:
germline
|
CFTR2
Study: CFTR2
Accession: SCV000071452.4 First in ClinVar: Oct 18, 2013 Last updated: Dec 26, 2017 |
|
|
Pathogenic
(Mar 28, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000854844.1
First in ClinVar: Oct 09, 2016 Last updated: Oct 09, 2016 |
Number of individuals with the variant: 5
Sex: mixed
|
|
Pathogenic
(Aug 24, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
CFTR-Related Disorders
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV000915202.1
First in ClinVar: May 27, 2019 Last updated: May 27, 2019 |
Comment:
The CFTR c.1585-1G>A variant, also known as c.1717-1G>A, occurs in a canonical splice site (acceptor) and is therefore predicted to disrupt or distort the normal … (more)
The CFTR c.1585-1G>A variant, also known as c.1717-1G>A, occurs in a canonical splice site (acceptor) and is therefore predicted to disrupt or distort the normal gene product. The c.1585-1G>A variant is listed by the ACMG as part of a panel recommended for routine diagnostic and carrier testing for cystic fibrosis (Watson et al. 2004). The c.1585-1G>A variant is one of the ten most common CFTR variants in persons of northern European descent, accounting for 0.6% of disease and is associated with a classic cystic fibrosis phenotype (Moskowitz et al. 2001). The variant is found in 635/79392 disease-associated alleles in individuals from North America and Europe (Sosnay et al. (2013). Control data are unavailable for this variant, which is reported at a frequency of 0.001395 in the European American cohort of the Exome Sequencing Project. Based on the collective evidence the c.1585-1G>A variant classified as pathogenic for cystic fibrosis. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. (less)
|
|
Pathogenic
(Jan 29, 2018)
|
criteria provided, single submitter
Method: curation
|
cystic fibrosis
Affected status: yes
Allele origin:
germline
|
CFTR-France
Accession: SCV001169469.1
First in ClinVar: Mar 16, 2020 Last updated: Mar 16, 2020 |
|
|
Pathogenic
(Nov 12, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Cystic fibrosis
Affected status: unknown
Allele origin:
unknown
|
Myriad Genetics, Inc.
Accession: SCV001194078.2
First in ClinVar: Apr 06, 2020 Last updated: Jul 06, 2020 |
Comment:
NM_000492.3(CFTR):c.1585-1G>A(aka 1717-1G>A) is classified as pathogenic in the context of cystic fibrosis and is associated with the classic form of disease. Sources cited for classification … (more)
NM_000492.3(CFTR):c.1585-1G>A(aka 1717-1G>A) is classified as pathogenic in the context of cystic fibrosis and is associated with the classic form of disease. Sources cited for classification include the following: PMID 23974870. Classification of NM_000492.3(CFTR):c.1585-1G>A(aka 1717-1G>A) is based on the following criteria: The variant is located at a canonical splice site, is expected to disrupt gene function and is reported in individuals with the relevant phenotype. Please note: this variant was assessed in the context of healthy population screening. (less)
|
|
Pathogenic
(Sep 01, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
CFTR-related condition
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV004114468.1
First in ClinVar: Nov 20, 2023 Last updated: Nov 20, 2023 |
Comment:
The CFTR c.1585-1G>A variant is predicted to disrupt the AG splice acceptor site and interfere with normal splicing. This variant, previously described as c.1717-1G>A, is … (more)
The CFTR c.1585-1G>A variant is predicted to disrupt the AG splice acceptor site and interfere with normal splicing. This variant, previously described as c.1717-1G>A, is known to be causative for cystic fibrosis (see for example Kerem et al. 1990. PubMed ID: 2236053; Sosnay et al. 2013. PubMed ID: 23974870). This variant is reported in 0.015% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-117227792-G-A). Variants that disrupt the consensus splice acceptor site in CFTR are expected to be pathogenic. This variant is interpreted as pathogenic. (less)
|
|
Pathogenic
(Jan 29, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Cystic fibrosis
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000074364.11
First in ClinVar: Jul 03, 2013 Last updated: Feb 20, 2024 |
Comment:
This sequence change affects an acceptor splice site in intron 11 of the CFTR gene. It is expected to disrupt RNA splicing. Variants that disrupt … (more)
This sequence change affects an acceptor splice site in intron 11 of the CFTR gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CFTR are known to be pathogenic (PMID: 1695717, 7691345, 9725922). This variant is present in population databases (rs76713772, gnomAD 0.02%). Disruption of this splice site has been observed in individuals with cystic fibrosis, and is included in the American College of Medical Genetics (ACMG) panel of CF variants (PMID: 15371902, 23974870). This variant is also known as 1717-1G>A. ClinVar contains an entry for this variant (Variation ID: 7112). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. (less)
|
|
Pathogenic
(Nov 10, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000603007.4
First in ClinVar: Sep 30, 2017 Last updated: Feb 20, 2024 |
Comment:
The CFTR c.1585-1G>A variant (rs76713772), also known as 1717-1G>A, has been reported in patients with the pancreatic insufficient form of cystic fibrosis (Guillermit 1990, Kerem … (more)
The CFTR c.1585-1G>A variant (rs76713772), also known as 1717-1G>A, has been reported in patients with the pancreatic insufficient form of cystic fibrosis (Guillermit 1990, Kerem 1990, Ivady 2011, Sosnay 2013). This variant is reported in ClinVar (Variation ID: 7112), is found in the non-Finnish European population with an allele frequency of 0.015% (19/128,796 alleles) in the Genome Aggregation Database. This variant disrupts the canonical splice acceptor site of intron 11, which is likely to negatively impact gene function. Based on available information, this variant is considered to be pathogenic. References: Guillermit H et al. A 3' splice site consensus sequence mutation in the cystic fibrosis gene. Hum Genet. 1990 85(4):450-3. PMID: 2210769 Ivady G et al. Distribution of CFTR mutations in Eastern Hungarians: relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis. J Cyst Fibros. 2011 10(3):217-20. PMID: 21296036 Kerem B et al. Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci U S A. 1990 87(21):8447-51. PMID: 2236053 Sosnay PR et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet. 2013 45(10):1160-7. PMID: 23974870 (less)
|
|
Pathogenic
(Dec 30, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Not provided
Affected status: unknown
Allele origin:
germline
|
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001713421.3
First in ClinVar: Jun 15, 2021 Last updated: Jun 09, 2024 |
Number of individuals with the variant: 3
|
|
Pathogenic
(Nov 24, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: not provided
Allele origin:
germline
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
Accession: SCV000281124.2
First in ClinVar: Jun 08, 2016 Last updated: Oct 09, 2016 |
|
|
Pathogenic
(Apr 25, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Cystic fibrosis
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000696853.1
First in ClinVar: Dec 26, 2017 Last updated: Dec 26, 2017 |
Comment:
Variant summary: The c.1585-1G>A variant affects a conserved intronic nucleotide. One in-silico tool predicts damaging outcome for this variant. 5/5 splice-tools in Alamut predict that … (more)
Variant summary: The c.1585-1G>A variant affects a conserved intronic nucleotide. One in-silico tool predicts damaging outcome for this variant. 5/5 splice-tools in Alamut predict that this variant affects the 3' splicing acceptor site and may generate an alternative 3' splicing acceptor site leading to c.1717delG. These predictions were confirmed by minigene and in vivo RNA analysis (Sosnay_2013). This variant is found in 11/120496 control chromosomes at a frequency of 0.0000913, which does not exceed maximal expected frequency of a pathogenic allele (0.0129603). This variant is a commonly known pathogenic variant, and multiple clinical laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant was classified as pathogenic. (less)
|
|
Pathogenic
(Oct 26, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000322328.7
First in ClinVar: Oct 09, 2016 Last updated: Apr 17, 2019 |
Comment:
The c.1585-1G>A pathogenic variant in the CFTR gene is one of the common pathogenic variants associated with cystic fibrosis (Kerem et al., 1990; Hull et … (more)
The c.1585-1G>A pathogenic variant in the CFTR gene is one of the common pathogenic variants associated with cystic fibrosis (Kerem et al., 1990; Hull et al., 1993; Ooi et al., 2012). This splice site variant destroys the canonical splice acceptor site in intron 11. Functional studies show this variant results in skipping of exon 12 with a frameshift that results in a premature termination codon, and the mRNA is not able to generate a stable protein product (Hull et al., 1993; Sharma et al., 2014). Although not present in the homozygous state, the NHLBI Exome Sequencing Project reports that c.1585-1G>A was observed in 12/8600 alleles (0.14%) from individuals of European American background, indicating it may be a rare variant in this population. We interpret c.1585-1G>A as a pathogenic variant. (less)
|
|
Pathogenic
(-)
|
criteria provided, single submitter
Method: clinical testing
|
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Affected status: unknown
Allele origin:
germline
|
Baylor Genetics
Accession: SCV001163507.1
First in ClinVar: Mar 01, 2020 Last updated: Mar 01, 2020 |
|
|
Pathogenic
(Dec 11, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Cystic fibrosis
Affected status: unknown
Allele origin:
germline
|
Johns Hopkins Genomics, Johns Hopkins University
Accession: SCV001433649.1
First in ClinVar: Sep 27, 2020 Last updated: Sep 27, 2020 |
Comment:
Disease-causing CFTR mutation. See www.CFTR2.org for phenotype information.
|
|
Pathogenic
(Sep 05, 2022)
|
criteria provided, single submitter
Method: curation
|
Cystic fibrosis
Affected status: yes
Allele origin:
unknown
|
Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV002573957.1
First in ClinVar: Sep 24, 2022 Last updated: Sep 24, 2022 |
Comment:
This variant was identified in 1 patient with a clinically confirmed diagnosis of cystic fibrosis. The variant was classified in the context of a project … (more)
This variant was identified in 1 patient with a clinically confirmed diagnosis of cystic fibrosis. The variant was classified in the context of a project re-classifying variants in the German Cystic Fibrosis Registry (Muko.e.V.). Link: https://www.muko.info/angebote/qualitaetsmanagement/register/cf-einrichtungen/mukoweb. Criteria applied: PVS1, PS3_SUP, PM2_SUP, PM3_VSTR (less)
Number of individuals with the variant: 1
|
|
Pathogenic
(Nov 05, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Cystic fibrosis
Affected status: yes
Allele origin:
unknown
|
Mendelics
Accession: SCV000886199.2
First in ClinVar: Oct 10, 2018 Last updated: Dec 11, 2022 |
|
|
Pathogenic
(Apr 14, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation
Affected status: unknown
Allele origin:
unknown
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV002815046.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
|
|
Pathogenic
(-)
|
criteria provided, single submitter
Method: clinical testing
|
CYSTIC FIBROSIS
Affected status: yes
Allele origin:
germline
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
Accession: SCV004046364.1
First in ClinVar: Oct 21, 2023 Last updated: Oct 21, 2023 |
Comment:
This variant has also been reported in the literature as c.1717-1G>A. This variant affects the canonical splice acceptor site of intron 10 and is therefore … (more)
This variant has also been reported in the literature as c.1717-1G>A. This variant affects the canonical splice acceptor site of intron 10 and is therefore predicted to interfere with splicing and result in loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay (NMD). This variant has been previously reported as a common pathogenic variant in individuals with cystic fibrosis (CF) (PMID: 2236053, 23974870, 20301428). Functional studies have demonstrated that this variant results in aberrant transcription of the CFTR gene (PMID: 25066652). It is present in the heterozygous state in the gnomAD population database at a frequency of 0.0071% (20/282220) and thus is presumed to be rare. Based on the available evidence, the c.1585-1G>A variant is classified as Pathogenic. (less)
|
|
Pathogenic
(Dec 26, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001134116.4
First in ClinVar: Jan 06, 2020 Last updated: Jan 06, 2024 |
Comment:
This variant disrupts a canonical splice site and interferes with normal mRNA splicing. The variant was found in at least one symptomatic patient, and found … (more)
This variant disrupts a canonical splice site and interferes with normal mRNA splicing. The variant was found in at least one symptomatic patient, and found in general population data that is consistent with pathogenicity. The variant occurs with multiple lone recessive pathogenic variants in the same gene. Functional studies have shown that this variant has a deleterious effect on protein function. (less)
|
|
Pathogenic
(Aug 26, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Revvity Omics, Revvity
Accession: SCV002019218.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
|
|
Pathogenic
(May 26, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Cystic fibrosis
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV001172724.4
First in ClinVar: Mar 16, 2020 Last updated: May 01, 2024 |
Comment:
The c.1585-1G>A intronic pathogenic mutation (also known as 1717-1G>A) results from a G to A substitution one nucleotide upstream from coding exon 12 of the … (more)
The c.1585-1G>A intronic pathogenic mutation (also known as 1717-1G>A) results from a G to A substitution one nucleotide upstream from coding exon 12 of the CFTR gene. This pathogenic mutation is associated with elevated sweat chloride levels, pancreatic insufficiency, and higher rate of Pseudomonas infection (Sosnay PR et al. Nat. Genet., 2013 Oct;45:1160-7). A functional in vitro study reported an absence of normally spliced RNA in expression minigenes transfected into HEK293 cells (Sharma N et al. Hum. Mutat., 2014 Oct;35:1249-59). In addition to the clinical data presented in the literature, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as a disease-causing mutation. (less)
|
|
Pathogenic
(Mar 20, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Bronchiectasis with or without elevated sweat chloride 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004213274.2
First in ClinVar: Dec 30, 2023 Last updated: Jun 17, 2024 |
|
|
Pathogenic
(Nov 01, 1990)
|
no assertion criteria provided
Method: literature only
|
CYSTIC FIBROSIS
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000027733.1
First in ClinVar: Apr 04, 2013 Last updated: Apr 04, 2013 |
Comment on evidence:
In a patient with cystic fibrosis, Kerem et al. (1990) identified a splice mutation in the CFTR gene, a G-to-A change of nucleotide -1 in … (more)
In a patient with cystic fibrosis, Kerem et al. (1990) identified a splice mutation in the CFTR gene, a G-to-A change of nucleotide -1 in the acceptor site of intron 10. In a French patient with cystic fibrosis, Guillermit et al. (1990) detected the same mutation: a G-to-A change in the last nucleotide at the 3-prime end of intron 10 nucleotide 1717 minus one. The mutation destroyed a splice site. (less)
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001739956.3 First in ClinVar: Jul 07, 2021 Last updated: Sep 08, 2021 |
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001955455.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
|
|
Pathogenic
(May 20, 2019)
|
no assertion criteria provided
Method: clinical testing
|
CFTR-related disorders
Affected status: unknown
Allele origin:
germline
|
Natera, Inc.
Accession: SCV001190615.1
First in ClinVar: Mar 29, 2020 Last updated: Mar 29, 2020 |
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001974900.1 First in ClinVar: Oct 07, 2021 Last updated: Oct 07, 2021 |
|
|
not provided
(-)
|
no classification provided
Method: literature only
|
Cystic fibrosis
Affected status: unknown
Allele origin:
unknown
|
GeneReviews
Accession: SCV001622799.2
First in ClinVar: May 23, 2021 Last updated: Oct 01, 2022 |
|
|
click to load more click to collapse |
Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Cystic Fibrosis. | Adam MP | - | 2024 | PMID: 20301428 |
The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing. | Schrijver I | The Journal of molecular diagnostics : JMD | 2016 | PMID: 26708955 |
Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions. | Sharma N | Human mutation | 2014 | PMID: 25066652 |
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. | Sosnay PR | Nature genetics | 2013 | PMID: 23974870 |
Distribution of CFTR mutations in Eastern Hungarians: relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis. | Ivady G | Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society | 2011 | PMID: 21296036 |
Splicing in action: assessing disease causing sequence changes. | Baralle D | Journal of medical genetics | 2005 | PMID: 16199547 |
Chloride transport in nasal ciliated cells of cystic fibrosis heterozygotes. | Sermet-Gaudelus I | American journal of respiratory and critical care medicine | 2005 | PMID: 15709055 |
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. | Watson MS | Genetics in medicine : official journal of the American College of Medical Genetics | 2004 | PMID: 15371902 |
Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study. | McKone EF | Lancet (London, England) | 2003 | PMID: 12767731 |
Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis. | Scotet V | Clinical genetics | 2001 | PMID: 11168024 |
Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. | Cohn JA | The New England journal of medicine | 1998 | PMID: 9725922 |
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. | Dörk T | Human genetics | 1997 | PMID: 9272157 |
Molecular diagnosis of congenital bilateral absence of the vas deferens: analyses of the CFTR gene in 64 French patients. | Bienvenu T | Annales de genetique | 1997 | PMID: 9150843 |
CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France. | Claustres M | Human genetics | 1996 | PMID: 8707306 |
Frequencies of cystic fibrosis mutations in the Maine population: high proportion of unknown alleles in individuals of French-Canadian ancestry. | Bayleran JK | Human genetics | 1996 | PMID: 8698344 |
Molecular basis of defective anion transport in L cells expressing recombinant forms of CFTR. | Yang Y | Human molecular genetics | 1993 | PMID: 7691345 |
Abnormal mRNA splicing resulting from three different mutations in the CFTR gene. | Hull J | Human molecular genetics | 1993 | PMID: 7689009 |
A mutation in CFTR produces different phenotypes depending on chromosomal background. | Kiesewetter S | Nature genetics | 1993 | PMID: 7506096 |
The spectrum of CFTR mutations in south-west German cystic fibrosis patients. | Lindner M | Human genetics | 1992 | PMID: 1283148 |
A cystic fibrosis patient with the nonsense mutation G542X and the splice site mutation 1717-1. | Schloesser M | Journal of medical genetics | 1991 | PMID: 1757966 |
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. | Kerem BS | Proceedings of the National Academy of Sciences of the United States of America | 1990 | PMID: 2236053 |
A 3' splice site consensus sequence mutation in the cystic fibrosis gene. | Guillermit H | Human genetics | 1990 | PMID: 2210769 |
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. | Cutting GR | Nature | 1990 | PMID: 1695717 |
http://www.cftr2.org/ | - | - | - | - |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CFTR | - | - | - | - |
https://cftr2.org | - | - | - | - |
https://cftr2.org/mutation/scientific/1717-1G-%253EA/ | - | - | - | - |
click to load more click to collapse |
Text-mined citations for rs76713772 ...
HelpRecord last updated Oct 27, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.