Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000492.3(CFTR):c.2052delA

Help
Interpretation:
Pathogenic​

Review status:
practice guideline
Submissions:
6 (Most recent: Oct 22, 2019)
Last evaluated:
Mar 3, 2004
Accession:
VCV000038493.3
Variation ID:
38493
Description:
1bp deletion
Help

NM_000492.3(CFTR):c.2052delA

Allele ID
47057
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
7q31.2
Genomic location
7: 117592219 (GRCh38) GRCh38 UCSC
7: 117232273 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.117232273del
NC_000007.14:g.117592219del
NM_000492.3:c.2052delA frameshift
... more HGVS
Protein change
K684fs
Other names
2184delA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA344706
dbSNP: rs121908746
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 5 practice guideline Mar 3, 2004 RCV000043563.5
Pathogenic 1 criteria provided, single submitter Jul 31, 2017 RCV000598782.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CFTR - - GRCh38
GRCh37
1360 1912

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
pathogenic
(Mar 03, 2004)
practice guideline
Method: curation
Cystic fibrosis
(Autosomal recessive inheritance)
Allele origin: germline
American College of Medical Genetics and Genomics (ACMG)
Study: The ACMG recommended carrier screening panel
Accession: SCV000071399.2
Submitted: (Jun 03, 2013)
Evidence details
Publications
PubMed (1)
pmc: 3110945
Comment:
Converted during submission to Pathogenic.
Pathogenic
(Mar 17, 2017)
reviewed by expert panel
Method: research
Cystic fibrosis
Allele origin: germline
CFTR2
Study: CFTR2
Accession: SCV000071472.4
Submitted: (Jun 29, 2017)
Evidence details
Other databases
https://cftr2.org
Pathogenic
(Feb 03, 2016)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
Allele origin: unknown
Counsyl
Accession: SCV000485160.1
Submitted: (Nov 23, 2016)
Evidence details
Pathogenic
(Jan 25, 2016)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
Allele origin: germline
Integrated Genetics/Laboratory Corporation of America
Accession: SCV000696884.1
Submitted: (Jan 25, 2018)
Evidence details
Publications
PubMed (5)
Comment:
Variant summary: This c.2052delA variant causes a frameshift, which alters the proteins amino acid sequence beginning at position 684 and leads to a premature termination ... (more)
Pathogenic
(Jul 31, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000709944.2
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The c.2052delA pathogenic variant in the CFTR gene has been reported previously, sometimes using alternate nomenclature (2184delA), either in the homozygous state or in trans ... (more)
Pathogenic
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
Allele origin: unknown
Mendelics
Accession: SCV001137481.1
Submitted: (Oct 22, 2019)
Evidence details

Citations for this variant

Title Author Journal Year Link
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Sosnay PR Nature genetics 2013 PMID: 23974870
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
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 PMC3110945
Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study. McKone EF Lancet (London, England) 2003 PMID: 12767731
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Grody WW Genetics in medicine : official journal of the American College of Medical Genetics 2001 PMID: 11280952
CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France. Claustres M Human genetics 1996 PMID: 8707306
Mild pulmonary, but severe hepatic disease in a cystic fibrosis patient homozygous for a frameshift mutation in the regulatory domain of the CFTR. Lissens W Journal of medical genetics 1993 PMID: 7686577
https://cftr2.org - - - -

Record last updated Jan 20, 2020