ClinVar Miner

Submissions for variant NM_000392.5(ABCC2):c.2901C>A (p.Tyr967Ter)

gnomAD frequency: 0.00009  dbSNP: rs17222547
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176262 SCV000227889 pathogenic not provided 2015-05-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003416080 SCV004109213 likely pathogenic ABCC2-related condition 2023-08-03 criteria provided, single submitter clinical testing The ABCC2 c.2901C>A variant is predicted to result in premature protein termination (p.Tyr967*). To our knowledge, this variant has not been reported in the literature in association with disease. This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/10-101591385-C-A). Nonsense variants in ABCC2 are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Invitae RCV000176262 SCV004264438 pathogenic not provided 2023-12-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr967*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with ABCC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 195649). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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