ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.2125G>A (p.Glu709Lys)

gnomAD frequency: 0.00006  dbSNP: rs201800225
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000319364 SCV000340237 uncertain significance not provided 2018-02-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765532 SCV000896846 uncertain significance Benign recurrent intrahepatic cholestasis type 2; Progressive familial intrahepatic cholestasis type 2 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000319364 SCV001152541 uncertain significance not provided 2019-03-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196787 SCV001367420 uncertain significance Benign recurrent intrahepatic cholestasis type 2 2019-11-29 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2.
Labcorp Genetics (formerly Invitae), Labcorp RCV000319364 SCV002392675 likely benign not provided 2024-02-23 criteria provided, single submitter clinical testing
GeneDx RCV000319364 SCV002818753 uncertain significance not provided 2022-07-05 criteria provided, single submitter clinical testing Reported in one patient with intrahepatic cholestasis of pregnancy in published literature (Aydin et al., 2020); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 19101985, 32808743, 32917322)
Mayo Clinic Laboratories, Mayo Clinic RCV000319364 SCV004224995 uncertain significance not provided 2022-06-23 criteria provided, single submitter clinical testing BP4
PreventionGenetics, part of Exact Sciences RCV004742361 SCV005360175 uncertain significance ABCB11-related disorder 2024-09-02 no assertion criteria provided clinical testing The ABCB11 c.2125G>A variant is predicted to result in the amino acid substitution p.Glu709Lys. This variant was previously reported in the heterozygous state in an individual with intrahepatic cholestasis of pregnancy; however, the authors suggested that this variant may be benign (Adanas Aydin et al. 2020. PubMed ID: 32917322). In addition, this variant was reported in a study of the ABCB11 gene, but its clinical significance was unknown (Byrne et al., 2009. PubMed ID: 19101985). Finally, it's been detected in an adult female with chronic liver disease and pregnancy-associated liver dysfunction (Nayagam et al. 2022. PubMed ID: 35894240). This variant is reported in 0.066% of alleles in individuals of Latino 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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