VCV000035839.72 - ClinVar

NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)

Germline

Classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(23)

Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.

Conflicting classifications of pathogenicity
Uncertain significance(3); Benign(6); Likely benign(7)

criteria provided, conflicting classifications

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)

Variation ID: 35839 Accession: VCV000035839.72

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 7q31.2 7: 117509093 (GRCh38) [ NCBI UCSC ] 7: 117149147 (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	Oct 20, 2024	Jul 1, 2024

HGVS

Nucleotide	Protein	Molecular consequence
NM_000492.4:c.224G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_000483.3:p.Arg75Gln	missense
NC_000007.14:g.117509093G>A
NC_000007.13:g.117149147G>A
NG_016465.4:g.48310G>A
NG_062452.1:g.731G>A
LRG_663:g.48310G>A
LRG_663t1:c.224G>A	LRG_663p1:p.Arg75Gln
	P13569:p.Arg75Gln

... more HGVS ... less HGVS

Protein change

R75Q

Other names

Canonical SPDI

NC_000007.14:117509092:G:A

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The 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.

0.00639 (A)

Allele frequency Help The frequency of the allele represented by this VCV record.

NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.02368

1000 Genomes Project 30x 0.00609

1000 Genomes Project 0.00639

Trans-Omics for Precision Medicine (TOPMed) 0.02024

Links

ClinGen: CA152327 UniProtKB: P13569#VAR_000111 dbSNP: rs1800076 VarSome

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
Gene	OMIM	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	3832	5210

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.
Cystic fibrosis	Conflicting interpretations of pathogenicity (8)	criteria provided, conflicting classifications	Feb 1, 2024	RCV000029494.30
not specified	Benign/Likely benign (4)	criteria provided, multiple submitters, no conflicts	Aug 16, 2017	RCV000116686.30
Hereditary pancreatitis	Likely benign (2)	criteria provided, single submitter	May 18, 2021	RCV000119039.18
CFTR-related disorder	Likely benign (2)	criteria provided, single submitter	Apr 27, 2017	RCV001095213.15
not provided	Conflicting interpretations of pathogenicity (5)	criteria provided, conflicting classifications	Jul 1, 2024	RCV000513754.43
Lung disease, non-specific	Uncertain significance (1)	no assertion criteria provided	May 14, 2015	RCV000582582.9
Abnormality of the pancreas	not provided (1)	no classification provided	-	RCV001249413.9

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.
Likely benign (-)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	NOT SPECIFIED Affected status: unknown Allele origin: germline	PreventionGenetics, part of Exact Sciences Accession: SCV000304479.1 First in ClinVar: Oct 02, 2016 Last updated: Oct 02, 2016
Likely benign (Jun 03, 2016)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	not specified Affected status: no Allele origin: germline	Genetic Services Laboratory, University of Chicago Accession: SCV000150650.2 First in ClinVar: May 17, 2014 Last updated: Nov 10, 2017
Uncertain significance (Jul 06, 2023)	criteria provided, single submitter (Quest Diagnostics criteria) Method: clinical testing	not provided Affected status: unknown Allele origin: unknown	Quest Diagnostics Nichols Institute San Juan Capistrano Accession: SCV000601071.5 First in ClinVar: Dec 06, 2016 Last updated: Jan 06, 2024	Publications: PubMed (51): PubMed: 23751316 22995991 21131649 26100556 26089335 26014425 25797027 25569187 25492507 16915933 26436105 25826586 26437683 27555793 26335950 33144682 31674704 32155011 9921909 36264955 32447501 33341408 23781395 18306312 14872121 10950058 25033378 22427236 26856995 28603918 24624459 20977904 24451227 15463907 23974870 1710599 23420618 30763667 30979466 31378749 28469871 29589582 29174009 9797105 34996830 34405919 35096544 35011616 34680554 33613790 35418593 Comment: The CFTR c.224G>A (p.Arg75Gln) variant has been reported in the published literature in individuals affected with pancreatitis (PMID: 25033378 (2014), 27555793 (2016), 32447501 (2021), 35096544 … (more) The CFTR c.224G>A (p.Arg75Gln) variant has been reported in the published literature in individuals affected with pancreatitis (PMID: 25033378 (2014), 27555793 (2016), 32447501 (2021), 35096544 (2022)), chronic obstructive pulmonary disease (PMID: 15463907 (2004), 34996830 (2022)), rheumatoid arthritis and/or diffuse bronchiectasis (PMID: 21131649 (2011), 25797027 (2015)), and idiopathic infertility (PMID: 32155011 (2020)). Functional studies show the variant as having acceptable (PMID: 18306312 (2008), 25033378 (2014)) or reduced chloride conductance activity (PMID: 23974870 (2013), 35418593 (2022)), reduced mRNA expression and processing (PMID: 25797027 (2015)), and defects in bicarbonate conductance (PMID: 25033378 (2014)). However, other studies report the variant CFTR protein is processed and glycosylated in a manner comparable to the wild-type (PMID: 18306312 (2008), 23974870 (2013), 25033378 (2014), 35418593 (2022)). The frequency of this variant in the general population, 0.039 (1980/50646 chromosomes in North-Western European subpopulation (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is higher than would generally be expected for pathogenic variants in this gene. (less)
Uncertain significance (Sep 07, 2017)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	not provided Affected status: not provided Allele origin: germline	Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics Accession: SCV000609754.1 First in ClinVar: Nov 05, 2017 Last updated: Nov 05, 2017
Likely benign (Aug 16, 2017)	criteria provided, single submitter (EGL Classification Definitions 2015) Method: clinical testing	not specified Affected status: unknown Allele origin: germline	Eurofins Ntd Llc (ga) Accession: SCV000110853.8 First in ClinVar: Jan 17, 2014 Last updated: Dec 15, 2018	Other databases http://www.egl-eurofins.com/emvc… http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CFTR Number of individuals with the variant: 102 Sex: mixed
Benign (Feb 28, 2014)	criteria provided, single submitter (LMM Criteria) Method: clinical testing	not specified Affected status: not provided Allele origin: germline	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine Accession: SCV000204215.4 First in ClinVar: Jan 31, 2015 Last updated: Nov 10, 2017	Publications: PubMed (7) PubMed: 9797105‚ 10950058‚ 16741161‚ 20977904‚ 22427236‚ 24451227‚ 15463907 Number of individuals with the variant: 8
Likely benign (May 18, 2021)	criteria provided, single submitter (Sema4 Curation Guidelines) Method: curation	Hereditary pancreatitis Affected status: unknown Allele origin: germline	Sema4, Sema4 Accession: SCV002529690.1 First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022
Benign (Feb 01, 2024)	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) Method: clinical testing	Cystic fibrosis Affected status: unknown Allele origin: germline	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV000562313.8 First in ClinVar: Dec 06, 2016 Last updated: Feb 28, 2024
Benign (Jul 01, 2024)	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2) Method: clinical testing	not provided Affected status: yes Allele origin: germline	CeGaT Center for Human Genetics Tuebingen Accession: SCV001155236.27 First in ClinVar: Feb 03, 2020 Last updated: Oct 20, 2024	Comment: CFTR: BS1, BS2 Number of individuals with the variant: 41
Benign (Jan 29, 2018)	criteria provided, single submitter (Claustres M et al. (Hum Mutat 2017)) Method: curation	cystic fibrosis Affected status: no, yes Allele origin: germline	CFTR-France Accession: SCV001169171.1 First in ClinVar: Mar 16, 2020 Last updated: Mar 16, 2020	Publications: PubMed (1) PubMed: 28603918 Comment: the variant does not result in CFTR-RD neither Observation 1: Observation 2:
Likely benign (Apr 27, 2017)	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019) Method: clinical testing	CFTR-Related Disorders Affected status: unknown Allele origin: germline	Illumina Laboratory Services, Illumina Accession: SCV000466502.3 First in ClinVar: Dec 06, 2016 Last updated: May 31, 2020	Publications: PubMed (3) PubMed: 7739684‚ 22427236‚ 9797105 Comment: This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more) This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. (less)
Uncertain significance (May 18, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Cystic fibrosis Affected status: no Allele origin: germline	Genome-Nilou Lab Accession: SCV001653444.1 First in ClinVar: Jun 08, 2021 Last updated: Jun 08, 2021	Sex: mixed
Benign (Feb 01, 2022)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Cystic fibrosis Affected status: unknown Allele origin: germline	Genome Diagnostics Laboratory, The Hospital for Sick Children Accession: SCV002507371.1 First in ClinVar: May 16, 2022 Last updated: May 16, 2022
Likely benign (Nov 28, 2023)	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024) Method: clinical testing	not provided Affected status: unknown Allele origin: germline	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories Accession: SCV000602979.8 First in ClinVar: Dec 06, 2016 Last updated: Feb 20, 2024
Benign (Dec 01, 2014)	criteria provided, single submitter (Ambry Variant Classification Scheme 2023) Method: clinical testing	Cystic fibrosis Affected status: unknown Allele origin: germline	Ambry Genetics Accession: SCV001175697.4 First in ClinVar: Mar 16, 2020 Last updated: May 01, 2024	Comment: This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation … (more) This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
Likely benign (Oct 02, 2023)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	not provided Affected status: yes Allele origin: germline	Clinical Genetics Laboratory, Skane University Hospital Lund Accession: SCV005196602.1 First in ClinVar: Aug 25, 2024 Last updated: Aug 25, 2024
Benign (Feb 22, 2014)	no assertion criteria provided Method: clinical testing	Cystic Fibrosis Affected status: unknown Allele origin: germline	Women's Health and Genetics/Laboratory Corporation of America, LabCorp Accession: SCV000052145.2 First in ClinVar: Apr 04, 2013 Last updated: Apr 04, 2013
Uncertain significance (May 14, 2015)	no assertion criteria provided Method: clinical testing	Lung disease, non-specific Affected status: yes Allele origin: germline	Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital Accession: SCV000692319.1 First in ClinVar: Feb 19, 2018 Last updated: Feb 19, 2018
Benign (Aug 06, 2019)	no assertion criteria provided Method: clinical testing	Cystic Fibrosis Affected status: unknown Allele origin: germline	Natera, Inc. Accession: SCV001453945.1 First in ClinVar: Jan 02, 2021 Last updated: Jan 02, 2021
Uncertain significance (Feb 01, 2022)	no assertion criteria provided Method: clinical testing	CFTR-related disorders Affected status: unknown Allele origin: germline	Genome Diagnostics Laboratory, The Hospital for Sick Children Accession: SCV002507458.1 First in ClinVar: May 16, 2022 Last updated: May 16, 2022
Uncertain significance (Nov 24, 2023)	no assertion criteria provided Method: clinical testing	Cystic fibrosis Affected status: yes Allele origin: germline	Zotz-Klimas Genetics Lab, MVZ Zotz Klimas Accession: SCV004171577.1 First in ClinVar: Dec 02, 2023 Last updated: Dec 02, 2023
not provided (-)	no classification provided Method: phenotyping only	Abnormality of the pancreas Affected status: unknown Allele origin: unknown	GenomeConnect, ClinGen Accession: SCV001423414.1 First in ClinVar: Jul 19, 2020 Last updated: Jul 19, 2020	Comment: Variant interpretted as Uncertain significance and reported on 02-10-2019 by Lab or GTR ID 500068. GenomeConnect assertions are reported exactly as they appear on the … (more) Variant interpretted as Uncertain significance and reported on 02-10-2019 by Lab or GTR ID 500068. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. (less) Clinical Features: Prenatal maternal abnormality (present) , Premature birth (present) , Abnormality of the pancreas (present) , Abnormality of the large intestine (present) Indication for testing: Diagnostic Age: 10-19 years Sex: female Testing laboratory: Mayo Clinic Laboratories,Mayo Clinic Date variant was reported to submitter: 2019-02-10 Testing laboratory interpretation: Uncertain significance
not provided (-)	no classification provided Method: literature only	Hereditary pancreatitis Affected status: yes Allele origin: germline	GeneReviews Accession: SCV000153745.3 First in ClinVar: May 31, 2014 Last updated: Oct 01, 2022	Publications: PubMed (1) PubMed: 20977904
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Comment:

The CFTR c.224G>A (p.Arg75Gln) variant has been reported in the published literature in individuals affected with pancreatitis (PMID: 25033378 (2014), 27555793 (2016), 32447501 (2021), 35096544 (2022)), chronic obstructive pulmonary disease (PMID: 15463907 (2004), 34996830 (2022)), rheumatoid arthritis and/or diffuse bronchiectasis (PMID: 21131649 (2011), 25797027 (2015)), and idiopathic infertility (PMID: 32155011 (2020)). Functional studies show the variant as having acceptable (PMID: 18306312 (2008), 25033378 (2014)) or reduced chloride conductance activity (PMID: 23974870 (2013), 35418593 (2022)), reduced mRNA expression and processing (PMID: 25797027 (2015)), and defects in bicarbonate conductance (PMID: 25033378 (2014)). However, other studies report the variant CFTR protein is processed and glycosylated in a manner comparable to the wild-type (PMID: 18306312 (2008), 23974870 (2013), 25033378 (2014), 35418593 (2022)). The frequency of this variant in the general population, 0.039 (1980/50646 chromosomes in North-Western European subpopulation (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is higher than would generally be expected for pathogenic variants in this gene.

Comment:

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

Comment:

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

Comment:

Variant interpretted as Uncertain significance and reported on 02-10-2019 by Lab or GTR ID 500068. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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.

Comment:

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Bicarbonate defective CFTR variants increase risk for chronic pancreatitis: A meta-analysis.	Berke G	PloS one	2022	PMID: 36264955
Spatial covariance analysis reveals the residue-by-residue thermodynamic contribution of variation to the CFTR fold.	Anglès F	Communications biology	2022	PMID: 35418593
Hereditary pancreatitis: An updated review in pediatrics.	Panchoo AV	World journal of clinical pediatrics	2022	PMID: 35096544
C FTR variants are associated with chronic bronchitis in smokers.	Saferali A	The European respiratory journal	2022	PMID: 34996830
Bicarbonate Transport in Cystic Fibrosis and Pancreatitis.	Angyal D	Cells	2021	PMID: 35011616
Dysfunction in the Cystic Fibrosis Transmembrane Regulator in Chronic Obstructive Pulmonary Disease as a Potential Target for Personalised Medicine.	Carrasco-Hernández L	Biomedicines	2021	PMID: 34680554
Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population-genetic approach.	Mikó Á	Human mutation	2021	PMID: 34405919
Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort.	Cambraia A	Disease markers	2021	PMID: 33613790
Exon identity influences splicing induced by exonic variants and in silico prediction efficacy.	Martin N	Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society	2021	PMID: 33341408
Impact of integrated translational research on clinical exome sequencing.	Klee EW	Genetics in medicine : official journal of the American College of Medical Genetics	2021	PMID: 33144682
Genetic markers for treatment-related pancreatitis in a cohort of Hispanic children with acute lymphoblastic leukemia.	Grimes AC	Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer	2021	PMID: 32447501
First custom next-generation sequencing infertility panel in Latin America: design and first results.	Lorenzi D	JBRA assisted reproduction	2020	PMID: 32155011
The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders.	Sasorith S	Human mutation	2020	PMID: 31674704
Pancreatitis Overview.	Adam MP	-	2020	PMID: 24624459
A New Insight into Chronic Pancreatitis.	Shimosegawa T	The Tohoku journal of experimental medicine	2019	PMID: 31378749
Unusual Cystic Fibrosis Transmembrane Conductance Regulator Mutations and Liver Disease: A Case Series and Review of the Literature.	Khan HH	Transplantation proceedings	2019	PMID: 30979466
Mutational analysis of CFTR in the Ecuadorian population using next-generation sequencing.	Ruiz-Cabezas JC	Gene	2019	PMID: 30763667
Spectrum of CFTR gene sequence variants in a northern Portugal population.	Grangeia A	Pulmonology	2018	PMID: 29589582
Guidelines for the clinical management and follow-up of infants with inconclusive cystic fibrosis diagnosis through newborn screening.	Sermet-Gaudelus I	Archives de pediatrie : organe officiel de la Societe francaise de pediatrie	2017	PMID: 29174009
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.	Claustres M	Human mutation	2017	PMID: 28603918
The importance of functional tests to assess the effect of a new CFTR variant when genotype-phenotype correlation is not possible.	Hinzpeter A	Clinical case reports	2017	PMID: 28469871
Hereditary pancreatitis: current perspectives.	Raphael KL	Clinical and experimental gastroenterology	2016	PMID: 27555793
CFTR: A New Horizon in the Pathomechanism and Treatment of Pancreatitis.	Hegyi P	Reviews of physiology, biochemistry and pharmacology	2016	PMID: 26856995
The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.	Girardet A	European journal of human genetics : EJHG	2016	PMID: 26014425
Epidemiology and genetics of cystic fibrosis in Asia: In preparation for the next-generation treatments.	Singh M	Respirology (Carlton, Vic.)	2015	PMID: 26437683
Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.	Trujillano D	Molecular genetics & genomic medicine	2015	PMID: 26436105
CFTR, bicarbonate, and the pathophysiology of cystic fibrosis.	Borowitz D	Pediatric pulmonology	2015	PMID: 26335950
Genetic mutations in SPINK1, CFTR, CTRC genes in acute pancreatitis.	Koziel D	BMC gastroenterology	2015	PMID: 26100556
Functional characteristics of L1156F-CFTR associated with alcoholic chronic pancreatitis in Japanese.	Kondo S	American journal of physiology. Gastrointestinal and liver physiology	2015	PMID: 26089335
Genotypes and phenotypes in cystic fibrosis and cystic fibrosis transmembrane regulator-related disorders.	Bombieri C	Seminars in respiratory and critical care medicine	2015	PMID: 25826586
Should diffuse bronchiectasis still be considered a CFTR-related disorder?	Bergougnoux A	Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society	2015	PMID: 25797027
The Common Chymotrypsinogen C (CTRC) Variant G60G (C.180T) Increases Risk of Chronic Pancreatitis But Not Recurrent Acute Pancreatitis in a North American Population.	LaRusch J	Clinical and translational gastroenterology	2015	PMID: 25569187
Targeted next-generation sequencing effectively analyzed the cystic fibrosis transmembrane conductance regulator gene in pancreatitis.	Nakano E	Digestive diseases and sciences	2015	PMID: 25492507
Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis.	LaRusch J	PLoS genetics	2014	PMID: 25033378
p.Arg75Gln, a CFTR variant involved in the risk of CFTR-related disorders?	Martinez B	Journal of human genetics	2014	PMID: 24451227
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.	Sosnay PR	Nature genetics	2013	PMID: 23974870
Analysis of CFTR Gene Variants in Idiopathic Bronchiectasis in Serbian Children.	Milosevic K	Pediatric allergy, immunology, and pulmonology	2013	PMID: 23781395
Clinical and morphological characteristics of sporadic genetically determined pancreatitis as compared to idiopathic pancreatitis: higher risk of pancreatic cancer in CFTR variants.	Hamoir C	Digestion	2013	PMID: 23751316
Combined computational-experimental analyses of CFTR exon strength uncover predictability of exon-skipping level.	Aissat A	Human mutation	2013	PMID: 23420618
An informatics approach to analyzing the incidentalome.	Berg JS	Genetics in medicine : official journal of the American College of Medical Genetics	2013	PMID: 22995991
CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?	Rosendahl J	Gut	2013	PMID: 22427236
Mutations of the cystic fibrosis gene in patients with bronchiectasis associated with rheumatoid arthritis.	Puéchal X	Annals of the rheumatic diseases	2011	PMID: 21131649
Combined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosis.	Schneider A	Gastroenterology	2011	PMID: 20977904
N-terminal CFTR missense variants severely affect the behavior of the CFTR chloride channel.	Gené GG	Human mutation	2008	PMID: 18306312
Analysis of common CFTR polymorphisms 5T, M470V and R75Q in healthy Serbian population.	Nikolic A	Genetika	2006	PMID: 16915933
Variants in the GH-IGF axis confer susceptibility to lung cancer.	Rudd MF	Genome research	2006	PMID: 16741161
High frequency of the R75Q CFTR variation in patients with chronic obstructive pulmonary disease.	Divac A	Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society	2004	PMID: 15463907
Cystic fibrosis diagnosed in an elderly man.	Gilljam M	Respiration; international review of thoracic diseases	2004	PMID: 14872121
Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis.	Ockenga J	The American journal of gastroenterology	2000	PMID: 10950058
Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease.	Bombieri C	Human genetics	1998	PMID: 9921909
Heterogeneity of reproductive tract abnormalities in men with absence of the vas deferens: role of cystic fibrosis transmembrane conductance regulator gene mutations.	Jarvi K	Fertility and sterility	1998	PMID: 9797105
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.	Chillón M	The New England journal of medicine	1995	PMID: 7739684
Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.	Zielenski J	Genomics	1991	PMID: 1710599
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CFTR	-	-	-	-
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Text-mined citations for rs1800076 ...

These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 25, 2024

ClinVar Genomic variation as it relates to human health

NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs1800076 ...