ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.2783G>A (p.Arg928Gln)

gnomAD frequency: 0.00010  dbSNP: rs200488448
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591821 SCV000704037 uncertain significance not provided 2017-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476297 SCV002789602 uncertain significance Benign recurrent intrahepatic cholestasis type 2; Progressive familial intrahepatic cholestasis type 2 2022-05-31 criteria provided, single submitter clinical testing
Invitae RCV000591821 SCV003519560 likely benign not provided 2023-12-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003117361 SCV003800946 uncertain significance not specified 2023-01-24 criteria provided, single submitter clinical testing Variant summary: ABCB11 c.2783G>A (p.Arg928Gln) results in a conservative amino acid change located in the ABC transporter type 1, transmembrane domain (IPR011527) of the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 3.2e-05 in 248692 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.2783G>A has been reported in the literature in at least one individual affected with intrahepatic cholestasis without strong evidence for causality (e.g., Liu_2013, Li_2015). These reports do not provide unequivocal conclusions about association of the variant with Familial Intrahepatic Cholestasis. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two ClinVar submitters (evaluation after 2014) have cited the variant, and both laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
PreventionGenetics, part of Exact Sciences RCV003900319 SCV004718008 uncertain significance ABCB11-related disorder 2023-12-07 criteria provided, single submitter clinical testing The ABCB11 c.2783G>A variant is predicted to result in the amino acid substitution p.Arg928Gln. This variant was reported in an individual with Transient neonatal cholestasis (Liu et al 2013. PubMed ID: 23279303). This variant is reported in 0.046% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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