ClinVar Miner

Submissions for variant NM_000392.5(ABCC2):c.2260del (p.Ile754fs)

gnomAD frequency: 0.00001  dbSNP: rs1564687941
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728135 SCV000855669 pathogenic not provided 2017-07-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003396303 SCV004106022 likely pathogenic ABCC2-related condition 2022-08-24 criteria provided, single submitter clinical testing The ABCC2 c.2260delA variant is predicted to result in a frameshift and premature protein termination (p.Ile754Leufs*6). This variant was reported in the homozygous state in an individual with Dubin-Johnson syndrome (Patient 5, Corpechot et al. 2019. PubMed ID: 31544333). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in ABCC2 are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Invitae RCV000728135 SCV004526305 pathogenic not provided 2023-05-28 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile754Leufs*6) in the ABCC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCC2 are known to be pathogenic (PMID: 9185779, 16549534, 16952291). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 593171). This premature translational stop signal has been observed in individual(s) with Dubin-Johnson syndrome (PMID: 31544333).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.