ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2820T>G (p.Thr940=) (rs60887846)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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
Core Molecular Diagnostic Lab,McGill University Health Centre RCV000537570 SCV000914209 likely benign Cystic fibrosis 2019-05-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000217477 SCV000110857 likely benign not specified 2016-12-15 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587160 SCV000696926 uncertain significance not provided 2017-01-26 criteria provided, single submitter clinical testing Variant summary: The CFTR c.2820T>G (p.Thr940Thr) variant, alternatively also known as 2952T>G, involves the alteration of a nucleotide, resulting in a synonymous change. This variant is 88 nucleotides away from the nearest exon-intron boundary. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts gain of an ESE site. However, these predictions have yet to be confirmed by functional studies. This variant was found in 41/121338 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.003844 (40/10406). This frequency is about lower than the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). However, it may still be rare polymorphism found mainly in African populations. In ClinVar, while one clinical diagnostic laboratory has classified it as uncertain significance, another has classified it as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Taken together, this variant is currently classified as VUS-possibly benign.
Invitae RCV000537570 SCV000625741 benign Cystic fibrosis 2017-12-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare 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).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587160 SCV000889299 likely benign not provided 2018-04-30 criteria provided, single submitter clinical testing

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