ClinVar Miner

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

gnomAD frequency: 0.00148  dbSNP: rs60887846
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000217477 SCV000110857 likely benign not specified 2016-12-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000217477 SCV000268870 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 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 and is not located with in the splice consensus sequence. It has been identified in 0.5% (21/4406) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (; dbSNP rs60887846).
Invitae RCV000537570 SCV000625741 benign Cystic fibrosis 2024-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000217477 SCV000696926 likely benign not specified 2019-01-28 criteria provided, single submitter clinical testing 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 predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00044 in 277144 control chromosomes, predominantly at a frequency of 0.0045 within the African subpopulation in the gnomAD database. This frequency is somewhat lower than expected for a pathogenic variant in CFTR causing Cystic Fibrosis (0.0045 vs 0.013), nevertheless the variant still might represent a benign polymorphism. To our knowledge, no occurrence of c.2820T>G in individuals affected with Cystic Fibrosis and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (1 benign, 1 likely benign, 1 VUS). Based on the evidence outlined above, the variant was classified as likely benign.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587160 SCV000889299 likely benign not provided 2023-01-30 criteria provided, single submitter clinical testing
Core Molecular Diagnostic Lab, McGill University Health Centre RCV000537570 SCV000914209 likely benign Cystic fibrosis 2019-05-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000587160 SCV001160029 benign not provided 2023-03-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000537570 SCV001177675 benign Cystic fibrosis 2015-06-22 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Sema4, Sema4 RCV002257404 SCV002529705 likely benign Hereditary pancreatitis 2021-02-04 criteria provided, single submitter curation
Johns Hopkins Genomics, Johns Hopkins University RCV000537570 SCV002570383 likely benign Cystic fibrosis 2022-07-23 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000537570 SCV000692327 uncertain significance Cystic fibrosis 2015-12-29 no assertion criteria provided clinical testing
Natera, Inc. RCV000537570 SCV001455995 likely benign Cystic fibrosis 2019-08-06 no assertion criteria provided clinical testing

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