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NM_000492.3(CFTR):c.4272C>A (p.Tyr1424Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
May 20, 2019
Accession:
VCV000555210.3
Variation ID:
555210
Description:
single nucleotide variant
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NM_000492.3(CFTR):c.4272C>A (p.Tyr1424Ter)

Allele ID
544496
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q31.2
Genomic location
7: 117666937 (GRCh38) GRCh38 UCSC
7: 117306991 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.117306991C>A
NC_000007.14:g.117666937C>A
NM_000492.3:c.4272C>A NP_000483.3:p.Tyr1424Ter nonsense
... more HGVS
Protein change
Y1424*
Other names
-
Canonical SPDI
NC_000007.14:117666936:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00419 (T)

Allele frequency
-
Links
dbSNP: rs1800135
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts May 20, 2019 RCV000670985.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CFTR - - GRCh38
GRCh37
1954 2699
LOC111674477 - - - GRCh38 - 81

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 30, 2017)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
Allele origin: unknown
Counsyl
Accession: SCV000795917.1
Submitted: (Jul 10, 2018)
Evidence details
Pathogenic
(May 20, 2019)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
Allele origin: germline
Invitae
Accession: SCV001382490.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change results in a premature translational stop signal in the CFTR gene (p.Tyr1424*). While this is not anticipated to result in nonsense mediated … (more)

Functional evidence

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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 this variant

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Title Author Journal Year Link
A Clinical and Molecular Survey of 62 Cystic Fibrosis Patients from Umbria (Central Italy) Disclosing a High Frequency (2.4%) of the 2184insA Allele: Implications for Screening. Prontera P Public health genomics 2016 PMID: 27728908
Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study. Dell'Edera D Journal of medical case reports 2014 PMID: 25304080
S1455X CFTR mutation and upper airway colonization with Pseudomonas aeruginosa. Kalampouka E Archivos de bronconeumologia 2014 PMID: 24388274
Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations. Křenková P Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2013 PMID: 23276700
Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations. Alibakhshi R Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2008 PMID: 17662673

Text-mined citations for rs1800135...

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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 May 10, 2021