ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.80+5A>C

gnomAD frequency: 0.00016  dbSNP: rs186976987
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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) RCV000730138 SCV000857853 uncertain significance not provided 2017-10-30 criteria provided, single submitter clinical testing
Invitae RCV000730138 SCV003455758 uncertain significance not provided 2022-07-20 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the ABCB4 gene. It does not directly change the encoded amino acid sequence of the ABCB4 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs186976987, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with ABCB4-related conditions. ClinVar contains an entry for this variant (Variation ID: 594773). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV004540049 SCV004781924 likely benign ABCB4-related disorder 2023-04-04 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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