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NM_000492.3(CFTR):c.2769C>T (p.Ala923=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(3);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Sep 1, 2021)
Last evaluated:
Jul 22, 2021
Accession:
VCV000093150.5
Variation ID:
93150
Description:
single nucleotide variant
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NM_000492.3(CFTR):c.2769C>T (p.Ala923=)

Allele ID
99057
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q31.2
Genomic location
7: 117603643 (GRCh38) GRCh38 UCSC
7: 117243697 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.117243697C>T
NC_000007.14:g.117603643C>T
NG_016465.4:g.142860C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:117603642:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00006
The Genome Aggregation Database (gnomAD) 0.00003
Exome Aggregation Consortium (ExAC) 0.00004
The Genome Aggregation Database (gnomAD), exomes 0.00005
Links
ClinGen: CA221014
dbSNP: rs1800108
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Jul 22, 2021 RCV001440746.2
Uncertain significance 1 criteria provided, single submitter Apr 14, 2017 RCV000589671.3
Likely benign 1 criteria provided, single submitter Dec 18, 2020 RCV000855556.2
Uncertain significance 1 criteria provided, single submitter Jul 22, 2021 RCV001588903.1
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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
1954 2699

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 14, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000110856.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
http://genet.sickkids.on.ca/cftr…
Likely benign
(Dec 18, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000696922.3
Submitted: (Dec 31, 2020)
Evidence details
Publications
PubMed (4)
Likely benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
Allele origin: germline
Invitae
Accession: SCV001643659.1
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jul 22, 2021)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001822122.1
Submitted: (Sep 01, 2021)
Evidence details
Uncertain significance
(Jul 22, 2021)
criteria provided, single submitter
Method: clinical testing
Congenital bilateral aplasia of vas deferens from CFTR mutation
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001822123.1
Submitted: (Sep 01, 2021)
Evidence details

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
Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic Fibrosis. Lefterova MI The Journal of molecular diagnostics : JMD 2016 PMID: 26847993
Comparative ex vivo, in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations. Ramalho AS Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2016 PMID: 25735457
Mutations of the cystic fibrosis gene in patients with bronchiectasis associated with rheumatoid arthritis. Puéchal X Annals of the rheumatic diseases 2011 PMID: 21131649
Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene. Macek M Jr Human mutation 1997 PMID: 9067754
http://genet.sickkids.on.ca/cftr/app - - - -
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CFTR - - - -

Text-mined citations for rs1800108...

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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 Sep 07, 2021