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NM_000492.4(CFTR):c.2820T>G (p.Thr940=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
10 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 2, 2020
Accession:
VCV000093151.13
Variation ID:
93151
Description:
single nucleotide variant
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NM_000492.4(CFTR):c.2820T>G (p.Thr940=)

Allele ID
99058
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q31.2
Genomic location
7: 117603694 (GRCh38) GRCh38 UCSC
7: 117243748 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_663:g.142911T>G
LRG_663t1:c.2820T>G LRG_663p1:p.Thr940=
NM_000492.3:c.2820T>G NP_000483.3:p.Thr940= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:117603693:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (G)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00033
Exome Aggregation Consortium (ExAC) 0.00034
1000 Genomes Project 0.00060
The Genome Aggregation Database (gnomAD) 0.00124
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00161
Trans-Omics for Precision Medicine (TOPMed) 0.00163
Links
ClinGen: CA221016
dbSNP: rs60887846
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 4 criteria provided, multiple submitters, no conflicts Jan 28, 2019 RCV000217477.6
Benign/Likely benign 4 criteria provided, multiple submitters, no conflicts Dec 2, 2020 RCV000537570.10
Likely benign 1 criteria provided, single submitter Jul 16, 2019 RCV000587160.5
Benign 1 criteria provided, single submitter Jun 22, 2015 RCV001016692.1
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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
Benign
(Feb 21, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000268870.2
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Thr940Thr in exon 17 of CFTR: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue … (more)
Likely benign
(Jul 16, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000889299.2
Submitted: (Oct 16, 2019)
Evidence details
Likely benign
(Dec 15, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000110857.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(May 21, 2019)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
(Autosomal recessive inheritance)
Allele origin: germline
Core Molecular Diagnostic Lab, McGill University Health Centre
Accession: SCV000914209.1
Submitted: (May 21, 2019)
Evidence details
Likely benign
(Jan 28, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000696926.2
Submitted: (Sep 24, 2019)
Evidence details
Comment:
Variant summary: CFTR c.2820T>G alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these … (more)
Benign
(Oct 12, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001160029.1
Submitted: (Aug 05, 2019)
Evidence details
Benign
(Jun 22, 2015)
criteria provided, single submitter
Method: clinical testing
Inborn genetic diseases
Allele origin: germline
Ambry Genetics
Accession: SCV001177675.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA … (more)
Benign
(Dec 02, 2020)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
Allele origin: germline
Invitae
Accession: SCV000625741.5
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Dec 29, 2015)
no assertion criteria provided
Method: clinical testing
Cystic fibrosis
Allele origin: germline
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital
Accession: SCV000692327.1
Submitted: (Jan 31, 2018)
Evidence details
Likely benign
(Aug 06, 2019)
no assertion criteria provided
Method: clinical testing
Cystic Fibrosis
Allele origin: germline
Natera, Inc.
Accession: SCV001455995.1
Submitted: (Dec 28, 2020)
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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CFTR - - - -

Text-mined citations for rs60887846...

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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 Nov 11, 2021