ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.3875G>A (p.Gly1292Glu)

dbSNP: rs1553543921
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV001839472 SCV002098939 likely pathogenic Benign recurrent intrahepatic cholestasis type 2 2021-09-18 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 28 of the ABCB11 gene that results in the amino acid substitution of Glutamic acid for Glycine at codon 1292 was detected. The observed variant c.3875G>A (p.Gly1292Glu) has not been reported in the 1000 genomes and gnomAD database. The variant has been previously reported in patients with cholestasis (Neng Li et al. 2016). The in silico prediction of the variant is possibly damaging by PolyPhen-2 (HumDiv) and damaging by SIFT, LRT and MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as a likely pathogenic variant.

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