Across a selection of available literature, the c.890A>G (p.Glu297Gly) variant has been identified in a homozygous state in at least 16 familial intrahepatic cholestasis patients, in a compound heterozygous state in 27 patients, and in a heterozygous state in four patients in whom a second variant was not identified (Strautnieks et al. 1998; Strautnieks et al. 2008; Arnell et al. 2008). The p.Glu297Gly variant was found in a heterozygous state in one of 250 controls and is reported at a frequency of 0.00049 in the European (Non-Finnish) population of the Exome Aggregation Consortium. In vitro functional studies demonstrated that the variant destroys a cryptic splice site, leading to approximately 50% of wild type splicing, and disrupts the processing and trafficking of the ABCB11 protein (Hayashi et al. 2005; Byrne et al. 2009). Based on the collective evidence, the p.Glu297Gly variant is classified as pathogenic for familial intrahepatic cholestasis.
NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly)
Germline
Classification
Help
criteria provided, multiple submitters, no conflicts. Learn more about how ClinVar calculates review status.
Pathogenic
10 out of 19 submissions contributed to this classification
Help
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
19
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly)
Variation ID: 6590 Accession: VCV000006590.66
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 2q31.1 2: 168990819 (GRCh38) [ NCBI UCSC ] 2: 169847329 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Dec 6, 2016 Jan 11, 2026 Mar 27, 2024 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_003742.4:c.890A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_003733.2:p.Glu297Gly missense NC_000002.12:g.168990819T>C NC_000002.11:g.169847329T>C NG_007374.2:g.45578A>G LRG_1199:g.45578A>G LRG_1199t1:c.890A>G LRG_1199p1:p.Glu297Gly O95342:p.Glu297Gly - Protein change
- E297G
- Other names
- -
- Canonical SPDI
- NC_000002.12:168990818:T:C
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
The Genome Aggregation Database (gnomAD) 0.00011
Trans-Omics for Precision Medicine (TOPMed) 0.00014
The Genome Aggregation Database (gnomAD), exomes 0.00025
The Genome Aggregation Database (gnomAD), exomes 0.00028
Exome Aggregation Consortium (ExAC) 0.00031
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| ABCB11 | Gene associated with autosomal recessive phenotype | No evidence available |
GRCh38 GRCh38 GRCh37 |
1747 | 1874 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Pathogenic (3) |
criteria provided, single submitter
|
Oct 12, 2021 | RCV000006968.9 | |
| Pathogenic (2) |
criteria provided, single submitter
|
Mar 27, 2024 | RCV000258070.7 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Jun 14, 2016 | RCV000403023.6 | |
| Pathogenic (10) |
criteria provided, multiple submitters, no conflicts
|
Mar 26, 2024 | RCV000725832.53 | |
| Pathogenic (1) |
no assertion criteria provided
|
- | RCV001003930.3 | |
|
ABCB11-related disorder
|
Pathogenic (1) |
no assertion criteria provided
|
Mar 28, 2024 | RCV003904813.2 |
| Pathogenic (1) |
criteria provided, single submitter
|
Feb 6, 2023 | RCV005357086.1 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
Expand all rows
Collapse all rows
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
|---|---|---|---|---|---|
|
Pathogenic
(Jun 14, 2016)
C
Contributing to aggregate classification
|
criteria provided, single submitter
|
Familial Intrahepatic Cholestasis |
Illumina Laboratory Services, Illumina
Accession: SCV000418972.2
First in ClinVar: Dec 06, 2016 Last updated: Dec 06, 2016 |
Comment:
show
Across a selection of available literature, the c.890A>G (p.Glu297Gly) variant has been identified in a homozygous state in at least 16 familial intrahepatic cholestasis patients, in a compound heterozygous state in 27 patients, and in a heterozygous state in four patients in whom a second variant was not identified (Strautnieks et al. 1998; Strautnieks et al. 2008; Arnell et al. 2008). The p.Glu297Gly variant was found in a heterozygous state in one of 250 controls and is reported at a frequency of 0.00049 in the European (Non-Finnish) population of the Exome Aggregation Consortium. In vitro functional studies demonstrated that the variant destroys a cryptic splice site, leading to approximately 50% of wild type splicing, and disrupts the processing and trafficking of the ABCB11 protein (Hayashi et al. 2005; Byrne et al. 2009). Based on the collective evidence, the p.Glu297Gly variant is classified as pathogenic for familial intrahepatic cholestasis. (less)
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
|
|
|
Pathogenic
(Mar 01, 2023)
C
Contributing to aggregate classification
|
criteria provided, single submitter
|
Not provided |
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV004226545.1
First in ClinVar: Jan 06, 2024 Last updated: Jan 06, 2024 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Number of individuals with the variant: 1
|
|
|
Pathogenic
(Mar 27, 2024)
C
Contributing to aggregate classification
|
criteria provided, single submitter
|
Benign recurrent intrahepatic cholestasis type 2 |
Baylor Genetics
Accession: SCV004198544.2
First in ClinVar: Dec 30, 2023 Last updated: Jun 17, 2024 |
Observation: 1
Collection method: clinical testing
Allele origin: unknown
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: unknown
Affected status: unknown
|
|
|
Pathogenic
(Feb 26, 2024)
C
Contributing to aggregate classification
|
criteria provided, single submitter
|
not provided |
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000958550.6
First in ClinVar: Aug 14, 2019 Last updated: Feb 25, 2025 |
Comment:
show
This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 297 of the ABCB11 protein (p.Glu297Gly). This variant is present in population databases (rs11568372, gnomAD 0.04%). This missense change has been observed in individuals with progressive familial intrahepatic cholestasis (PMID: 9806540, 19101985). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 6590). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ABCB11 protein function. Experimental studies have shown that this missense change affects ABCB11 function (PMID: 12370274, 17855769, 19101985). For these reasons, this variant has been classified as Pathogenic. (less)
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
|
|
|
Pathogenic
(May 10, 2018)
C
Contributing to aggregate classification
|
criteria provided, single submitter
|
not provided |
Eurofins Ntd Llc (ga)
Accession: SCV000339723.5
First in ClinVar: Dec 06, 2016 Last updated: Apr 13, 2025 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Number of individuals with the variant: 12
Zygosity: Homozygote, Single Heterozygote
Sex: mixed
|
|
|
Pathogenic
(Oct 12, 2021)
C
Contributing to aggregate classification
|
criteria provided, single submitter
|
Progressive familial intrahepatic cholestasis type 2 |
MGZ Medical Genetics Center
Accession: SCV002580443.2
First in ClinVar: Oct 15, 2022 Last updated: Apr 13, 2025
Comment:
ACMG criteria applied: PM3_STR, PS3_MOD, PS4_MOD, PM2_SUP, PP3
|
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Number of individuals with the variant: 2
Sex: male
|
|
|
Pathogenic
(Feb 06, 2023)
C
Contributing to aggregate classification
|
criteria provided, single submitter
|
Progressive familial intrahepatic cholestasis type 2
Benign recurrent intrahepatic cholestasis type 2
Explanation for multiple conditions: Uncertain.
The variant was classified for several related diseases, possibly a spectrum of disease; the variant may be associated with one or more the diseases. |
Department of Pathology and Laboratory Medicine, Sinai Health System
Accession: SCV005915454.1
First in ClinVar: Apr 28, 2025 Last updated: Apr 28, 2025 |
Observation: 1
Collection method: research
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: research
Allele origin: germline
Affected status: unknown
|
|
|
Pathogenic
(Mar 26, 2024)
C
Contributing to aggregate classification
|
criteria provided, single submitter
|
not provided |
Revvity Omics, Revvity
Accession: SCV002020397.2
First in ClinVar: Nov 29, 2021 Last updated: Sep 06, 2025 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
|
|
|
Pathogenic
(Jan 01, 2023)
C
Contributing to aggregate classification
|
criteria provided, single submitter
|
not provided |
CeGaT Center for Human Genetics Tuebingen
Accession: SCV001246021.36
First in ClinVar: May 09, 2020 Last updated: Jan 11, 2026 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Number of individuals with the variant: 2
|
|
|
Pathogenic
(Jan 19, 2022)
C
Contributing to aggregate classification
|
criteria provided, single submitter
|
Not Provided |
GeneDx
Accession: SCV002064161.2
First in ClinVar: Jan 29, 2022 Last updated: Mar 04, 2023 |
Comment:
show
Published functional studies demonstrate a damaging effect (severe protein dysfunction) (Wang et al., 2002; Byrne et al., 2009); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 18987030, 17855769, 24991443, 19101985, 18395098, 15791618, 20683202, 28776642, 29761168, 28733223, 32581362, 31589614, 34016879, 31319225, 9806540, 12370274) (less)
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
|
|
|
Pathogenic
(Sep 01, 2005)
N
Not contributing to aggregate classification
|
no assertion criteria provided
|
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2 |
OMIM
Accession: SCV000027164.3
First in ClinVar: Apr 04, 2013 Last updated: Dec 15, 2018 |
Observation: 1
Collection method: literature only
Allele origin: germline
Affected status: not provided
Observation 1
Collection method: literature only
Allele origin: germline
Affected status: not provided
Comment on evidence:
Progressive Familial Intrahepatic Cholestasis 2 In affected members of 7 families segregating progressive familial intrahepatic cholestasis (PFIC2; 601847), Strautnieks et al. (1998) identified homozygosity for … (more)
Progressive Familial Intrahepatic Cholestasis 2 In affected members of 7 families segregating progressive familial intrahepatic cholestasis (PFIC2; 601847), Strautnieks et al. (1998) identified homozygosity for an 890A-G transition in the ABCB11 gene, resulting in a glu297-to-gly (E297G) substitution in the intracellular loop between transmembrane spans 4 and 5. Affected members of 6 other families had a heterozygous E297G mutation, but a second ABCB11 mutation on the other allele was not identified. In a patient with PFIC2, Jansen et al. (1999) identified compound heterozygosity for 2 mutations in the ABCB11 gene: E297G and R1057X (603201.0007). Immunohistochemistry showed absence of the BSEP protein in liver. Benign Recurrent Intrahepatic Cholestasis 2 Van Mil et al. (2004) identified homozygosity for the E297G mutation in 2 unrelated patients with benign recurrent intrahepatic cholestasis 2 (605479). Both patients had numerous episodes and developed permanent cholestasis later in life. In a 16-year-old boy with benign recurrent intrahepatic cholestasis 2, Noe et al. (2005) identified compound heterozygosity for 2 mutations in the ABCB11 gene: E297G and R432T (603201.0006). In vitro functional expression studies showed that the E297G and R432T mutant proteins had 20% and 13% transport activity, respectively, compared to wildtype. (less)
|
|
|
Pathogenic
(Sep 01, 2005)
N
Not contributing to aggregate classification
|
no assertion criteria provided
|
CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2 |
OMIM
Accession: SCV000328233.2
First in ClinVar: Nov 06, 2016 Last updated: Dec 15, 2018 |
Observation: 1
Collection method: literature only
Allele origin: germline
Affected status: not provided
Observation 1
Collection method: literature only
Allele origin: germline
Affected status: not provided
Comment on evidence:
Progressive Familial Intrahepatic Cholestasis 2 In affected members of 7 families segregating progressive familial intrahepatic cholestasis (PFIC2; 601847), Strautnieks et al. (1998) identified homozygosity for … (more)
Progressive Familial Intrahepatic Cholestasis 2 In affected members of 7 families segregating progressive familial intrahepatic cholestasis (PFIC2; 601847), Strautnieks et al. (1998) identified homozygosity for an 890A-G transition in the ABCB11 gene, resulting in a glu297-to-gly (E297G) substitution in the intracellular loop between transmembrane spans 4 and 5. Affected members of 6 other families had a heterozygous E297G mutation, but a second ABCB11 mutation on the other allele was not identified. In a patient with PFIC2, Jansen et al. (1999) identified compound heterozygosity for 2 mutations in the ABCB11 gene: E297G and R1057X (603201.0007). Immunohistochemistry showed absence of the BSEP protein in liver. Benign Recurrent Intrahepatic Cholestasis 2 Van Mil et al. (2004) identified homozygosity for the E297G mutation in 2 unrelated patients with benign recurrent intrahepatic cholestasis 2 (605479). Both patients had numerous episodes and developed permanent cholestasis later in life. In a 16-year-old boy with benign recurrent intrahepatic cholestasis 2, Noe et al. (2005) identified compound heterozygosity for 2 mutations in the ABCB11 gene: E297G and R432T (603201.0006). In vitro functional expression studies showed that the E297G and R432T mutant proteins had 20% and 13% transport activity, respectively, compared to wildtype. (less)
|
|
|
Pathogenic
(-)
N
Not contributing to aggregate classification
|
no assertion criteria provided
|
not provided |
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001930914.1 First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
|
|
|
Pathogenic
(-)
N
Not contributing to aggregate classification
|
no assertion criteria provided
|
not provided |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001959735.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
|
|
|
Pathogenic
(-)
N
Not contributing to aggregate classification
|
no assertion criteria provided
|
not provided |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001968712.1 First in ClinVar: Oct 07, 2021 Last updated: Oct 07, 2021 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
|
|
|
Pathogenic
(Nov 03, 2017)
N
Not contributing to aggregate classification
|
no assertion criteria provided
|
Progressive familial intrahepatic cholestasis type 2 |
Natera, Inc.
Accession: SCV002077911.1
First in ClinVar: Feb 13, 2022 Last updated: Feb 13, 2022 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
|
|
|
Pathogenic
(Mar 28, 2024)
N
Not contributing to aggregate classification
|
no assertion criteria provided
|
ABCB11-related condition
|
PreventionGenetics, part of Exact Sciences
Accession: SCV004723550.2
First in ClinVar: Mar 16, 2024 Last updated: Oct 08, 2024 |
Comment:
show
The ABCB11 c.890A>G variant is predicted to result in the amino acid substitution p.Glu297Gly. This variant has been reported to be pathogenic for intrahepatic cholestasis due to protein misfolding (Strautnieks et al. 1998. PubMed ID: 9806540; Strautnieks et al. 2008. PubMed ID: 18395098; Arnell et al. 2010. PubMed ID: 20683202; Wang et al. 2002. PubMed ID: 12370274). This variant is reported in 0.044% of alleles in individuals of European (Non-Finnish) descent in gnomAD. This variant is interpreted as pathogenic. (less)
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: unknown
|
|
|
Pathogenic
(-)
N
Not contributing to aggregate classification
|
no assertion criteria provided
|
not provided |
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001743989.3 First in ClinVar: Jul 07, 2021 Last updated: Sep 08, 2021 |
Observation: 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
Observation 1
Collection method: clinical testing
Allele origin: germline
Affected status: yes
|
|
|
Pathogenic
(-)
N
Not contributing to aggregate classification
|
no assertion criteria provided
|
Cholestasis, intrahepatic, of pregnancy, 3 |
NIHR Bioresource Rare Diseases, University of Cambridge
Accession: SCV001161904.2
First in ClinVar: Feb 27, 2020 Last updated: Apr 13, 2025 |
Observation 1
Collection method: research
Allele origin: unknown
Affected status: yes
Number of individuals with the variant: 1
Sex: female
|
|
Comment:
Comment:
PP3, PM2, PS3, PS4
Comment:
This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 297 of the ABCB11 protein (p.Glu297Gly). This variant is present in population databases (rs11568372, gnomAD 0.04%). This missense change has been observed in individuals with progressive familial intrahepatic cholestasis (PMID: 9806540, 19101985). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 6590). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ABCB11 protein function. Experimental studies have shown that this missense change affects ABCB11 function (PMID: 12370274, 17855769, 19101985). For these reasons, this variant has been classified as Pathogenic.
Comment:
ABCB11: PM2, PM3, PP1:Moderate, PP4:Moderate, PS3:Supporting, PS4:Supporting
Comment:
Published functional studies demonstrate a damaging effect (severe protein dysfunction) (Wang et al., 2002; Byrne et al., 2009); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 18987030, 17855769, 24991443, 19101985, 18395098, 15791618, 20683202, 28776642, 29761168, 28733223, 32581362, 31589614, 34016879, 31319225, 9806540, 12370274)
Comment:
The ABCB11 c.890A>G variant is predicted to result in the amino acid substitution p.Glu297Gly. This variant has been reported to be pathogenic for intrahepatic cholestasis due to protein misfolding (Strautnieks et al. 1998. PubMed ID: 9806540; Strautnieks et al. 2008. PubMed ID: 18395098; Arnell et al. 2010. PubMed ID: 20683202; Wang et al. 2002. PubMed ID: 12370274). This variant is reported in 0.044% of alleles in individuals of European (Non-Finnish) descent in gnomAD. This variant is interpreted as pathogenic.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Whole-genome sequencing of patients with rare diseases in a national health system. | Turro E | Nature | 2020 | PMID: 32581362 |
| Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants. | Dröge C | Journal of hepatology | 2017 | PMID: 28733223 |
| Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing. | Byrne JA | Hepatology (Baltimore, Md.) | 2009 | PMID: 19101985 |
| Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. | Strautnieks SS | Gastroenterology | 2008 | PMID: 18395098 |
| Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases. | Lam P | American journal of physiology. Cell physiology | 2007 | PMID: 17855769 |
| Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis. | Noe J | Journal of hepatology | 2005 | PMID: 16039748 |
| Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. | van Mil SW | Gastroenterology | 2004 | PMID: 15300568 |
| The role of bile salt export pump mutations in progressive familial intrahepatic cholestasis type II. | Wang L | The Journal of clinical investigation | 2002 | PMID: 12370274 |
| Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. | Jansen PL | Gastroenterology | 1999 | PMID: 10579978 |
| A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. | Strautnieks SS | Nature genetics | 1998 | PMID: 9806540 |
| http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ABCB11 | - | - | - | - |
| click to load more citations click to collapse | ||||
Text-mined citations for rs11568372 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Jan 11, 2026
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.