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NM_000492.4(CFTR):c.3922G>T (p.Glu1308Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jul 10, 2018)
Last evaluated:
Apr 12, 2017
Accession:
VCV000053854.1
Variation ID:
53854
Description:
single nucleotide variant
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NM_000492.4(CFTR):c.3922G>T (p.Glu1308Ter)

Allele ID
68521
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q31.2
Genomic location
7: 117652890 (GRCh38) GRCh38 UCSC
7: 117292944 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.117292944G>T
NC_000007.14:g.117652890G>T
NG_016465.4:g.192107G>T
... more HGVS
Protein change
E1308*
Other names
-
Canonical SPDI
NC_000007.14:117652889:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00001
Links
ClinGen: CA327349
dbSNP: rs397508643
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter Apr 12, 2017 RCV000577670.1
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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
1972 2727

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Apr 12, 2017)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
Allele origin: unknown
Counsyl
Accession: SCV000790857.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (2)
not provided
(-)
no assertion provided
Method: literature only
CFTR-related disorders
Allele origin: germline
ClinVar Staff, National Center for Biotechnology Information (NCBI)
Accession: SCV000679086.1
Submitted: (Mar 30, 2013)
Evidence details
Publications
PubMed (1)

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
Analysis of the CFTR gene in Venezuelan cystic fibrosis patients, identification of six novel cystic fibrosis-causing genetic variants. Sánchez K The application of clinical genetics 2016 PMID: 27022295
CFTR mutations in cystic fibrosis patients from Murcia region (southeastern Spain): implications for genetic testing. Moya-Quiles MR Clinical genetics 2009 PMID: 19845690
Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry. Alonso MJ Annals of human genetics 2007 PMID: 17331079

Text-mined citations for rs397508643...

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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 Dec 04, 2021