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NM_000492.4(CFTR):c.2036G>A (p.Trp679Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: May 28, 2020)
Last evaluated:
Apr 27, 2020
Accession:
VCV000053429.2
Variation ID:
53429
Description:
single nucleotide variant
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NM_000492.4(CFTR):c.2036G>A (p.Trp679Ter)

Allele ID
68097
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q31.2
Genomic location
7: 117592203 (GRCh38) GRCh38 UCSC
7: 117232257 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_663:g.131420G>A
LRG_663t1:c.2036G>A LRG_663p1:p.Trp679Ter
NC_000007.13:g.117232257G>A
... more HGVS
Protein change
W679*
Other names
-
Canonical SPDI
NC_000007.14:117592202:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA326734
dbSNP: rs397508333
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 Apr 27, 2020 RCV000046525.5
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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
1974 2730

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jan 06, 2015)
criteria provided, single submitter
Method: literature only
Cystic fibrosis
(Autosomal recessive inheritance)
Allele origin: unknown
Counsyl
Accession: SCV000221007.1
Submitted: (Mar 11, 2015)
Evidence details
Publications
PubMed (3)
Pathogenic
(Apr 27, 2020)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
Allele origin: germline
Johns Hopkins Genomics, Johns Hopkins University
Accession: SCV001425428.1
Submitted: (May 28, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This CFTR variant has been previously reported in patients with cystic fibrosis and a single submitter in ClinVar classifies it as likely pathogenic (variation ID: … (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
Comparing the American and European diagnostic guidelines for cystic fibrosis: same disease, different language? Ooi CY Thorax 2012 PMID: 22504961
A Chinese girl with cystic fibrosis: a case report identified by sweat and genetic tests. Cheng Y Chinese medical journal 2012 PMID: 22490504
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene? Dorfman R Clinical genetics 2010 PMID: 20059485

Text-mined citations for rs397508333...

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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 Oct 24, 2021