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NM_000492.3(CFTR):c.828C>A (p.Cys276Ter)

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Interpretation:
Pathogenic​

Review status:
reviewed by expert panel
Submissions:
2 (Most recent: Jun 29, 2017)
Last evaluated:
Mar 17, 2017
Accession:
VCV000054064.1
Variation ID:
54064
Description:
single nucleotide variant
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NM_000492.3(CFTR):c.828C>A (p.Cys276Ter)

Allele ID
68731
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q31.2
Genomic location
7: 117176686 (GRCh37) GRCh37 UCSC
7: 117536632 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.117176686C>A
NC_000007.14:g.117536632C>A
NM_000492.3:c.828C>A NP_000483.3:p.Cys276Ter nonsense
... more HGVS
Protein change
C276*
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA327661
dbSNP: rs397508799
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 reviewed by expert panel Mar 17, 2017 RCV000047263.5
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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
1360 1912

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 17, 2017)
reviewed by expert panel
Method: research
Cystic fibrosis
Allele origin: germline
CFTR2
Study: CFTR2
Accession: SCV000245895.2
Submitted: (Jun 29, 2017)
Evidence details
Other databases
https://cftr2.org
Likely pathogenic
(Jul 23, 2014)
criteria provided, single submitter
Method: literature only
Cystic fibrosis
(Autosomal recessive inheritance)
Allele origin: unknown
Counsyl
Accession: SCV000220542.1
Submitted: (Mar 11, 2015)
Evidence details
Publications
PubMed (2)

Citations for this variant

Title Author Journal Year Link
Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations. Tzetis M Human genetics 1997 PMID: 9003508
Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients. FĂ©rec C Molecular and cellular probes 1995 PMID: 7541510
https://cftr2.org - - - -

Record last updated Jan 18, 2020