ClinVar Genomic variation as it relates to human health
NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter)
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.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter)
Variation ID: 30485 Accession: VCV000030485.63
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 2p21 2: 43822924 (GRCh38) [ NCBI UCSC ] 2: 44050063 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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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 Oct 11, 2015 May 1, 2024 Mar 26, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_022436.3:c.1336C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_071881.1:p.Arg446Ter nonsense NM_001348912.2:c.*16-4462G>A intron variant NM_001348913.1:c.*16-4462G>A NM_001348913.2:c.*16-4462G>A intron variant NC_000002.12:g.43822924G>A NC_000002.11:g.44050063G>A NG_008883.1:g.20896C>T NG_053008.1:g.53886G>A LRG_1181:g.20896C>T LRG_1181t1:c.1336C>T LRG_1181p1:p.Arg446Ter - Protein change
- R446*
- Other names
- -
- Canonical SPDI
- NC_000002.12:43822923:G:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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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.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD) 0.00011
1000 Genomes Project 30x 0.00016
Trans-Omics for Precision Medicine (TOPMed) 0.00019
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 | ||
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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. |
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ABCG5 | - | - |
GRCh38 GRCh37 |
177 | 704 | |
DYNC2LI1 | - | - |
GRCh38 GRCh37 |
166 | 653 |
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. |
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Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Dec 17, 2023 | RCV000023442.26 | |
Pathogenic (5) |
criteria provided, multiple submitters, no conflicts
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Jul 28, 2022 | RCV001508988.20 | |
Pathogenic (1) |
criteria provided, single submitter
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Apr 22, 2022 | RCV002225074.10 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Mar 26, 2024 | RCV003989298.1 | |
Pathogenic/Likely pathogenic (6) |
criteria provided, multiple submitters, no conflicts
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Mar 26, 2024 | RCV000856568.17 | |
Pathogenic (1) |
criteria provided, single submitter
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Aug 1, 2023 | RCV004018668.1 |
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. |
More information
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. |
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Pathogenic
(Apr 27, 2017)
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criteria provided, single submitter
Method: clinical testing
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Sitosterolemia 1
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV000430474.3
First in ClinVar: Dec 06, 2016 Last updated: May 24, 2019 |
Comment:
The ABCG5 c.1336C>T (p.Arg446Ter) variant is a stop-gained variant that has been reported in seven studies in which it is found in a total of … (more)
The ABCG5 c.1336C>T (p.Arg446Ter) variant is a stop-gained variant that has been reported in seven studies in which it is found in a total of 11 individuals with sitosterolemia, including four in a homozygous state (of which three are related) and six in a compound heterozygous state. The variant was also detected in a compound heterozygous state in an asymptomatic sibling (Mannucci et al. 2007; Kratz et al. 2007; Nui et al. 2010; Rios et al. 2010; Park et al. 2014; Tada et al. 2015; Li et al. 2016). Control data are unavailable for the p.Arg446Ter variant, which is reported at a frequency of 0.00071 in the East Asian population of the Exome Aggregation Consortium. Due to the potential impact of stop-gained variants and the supporting evidence, the p.Arg446Ter variant is classified as pathogenic for sitosterolemia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. (less)
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Pathogenic
(Aug 28, 2020)
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criteria provided, single submitter
Method: clinical testing
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Sitosterolemia 2
Affected status: yes
Allele origin:
unknown
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Baylor Genetics
Accession: SCV001520664.1
First in ClinVar: Mar 22, 2021 Last updated: Mar 22, 2021 |
Comment:
This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
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Pathogenic
(May 20, 2019)
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criteria provided, single submitter
Method: clinical testing
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Not provided
Affected status: unknown
Allele origin:
germline
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Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001715452.1
First in ClinVar: Jun 15, 2021 Last updated: Jun 15, 2021 |
Comment:
PVS1, PM3, PS4_supporting, PP1, PP4
Number of individuals with the variant: 1
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Pathogenic
(Oct 20, 2021)
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criteria provided, single submitter
Method: clinical testing
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Not provided
Affected status: yes
Allele origin:
germline
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AiLife Diagnostics, AiLife Diagnostics
Accession: SCV002502539.1
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
Number of individuals with the variant: 1
Secondary finding: no
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Pathogenic
(Jul 28, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV003761779.2
First in ClinVar: Feb 13, 2023 Last updated: Nov 11, 2023 |
Comment:
Observed with a variant on the opposite allele (in trans) in in patients with sitosterolemia in published literature (Kratz et al., 2007; Rios et al., … (more)
Observed with a variant on the opposite allele (in trans) in in patients with sitosterolemia in published literature (Kratz et al., 2007; Rios et al., 2010; Wang et al., 2014; Buonuomo et al., 2017; Hu et al., 2021); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 21729603, 27884173, 26813946, 34426522, 25525159, 31589614, 32041611, 32862661, 20521169, 17228349, 19111681, 30528907, 29055934, 28521186, 25665839, 33217533, 29353225, 33269076, 17976197, 24166850, 20719861, 31060161) (less)
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Pathogenic
(May 25, 2022)
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criteria provided, single submitter
Method: clinical testing
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Sitosterolemia 2
Affected status: unknown
Allele origin:
germline
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New York Genome Center
Accession: SCV003925154.1
First in ClinVar: May 20, 2023 Last updated: May 20, 2023 |
Clinical Features:
Hyperlipidemia (present) , Diabetes mellitus (present)
Secondary finding: no
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Pathogenic
(Sep 20, 2023)
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criteria provided, single submitter
Method: clinical testing
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Sitosterolemia 2
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV002022900.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Pathogenic
(Dec 17, 2023)
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criteria provided, single submitter
Method: clinical testing
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Sitosterolemia
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV004322322.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Arg446*) in the ABCG5 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Arg446*) in the ABCG5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCG5 are known to be pathogenic (PMID: 11138003, 25665839). This variant is present in population databases (rs199689137, gnomAD 0.08%). This premature translational stop signal has been observed in individual(s) with sitosterolemia (PMID: 34304999, 34887220, 34969652). ClinVar contains an entry for this variant (Variation ID: 30485). For these reasons, this variant has been classified as Pathogenic. (less)
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Likely pathogenic
(Mar 26, 2024)
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criteria provided, single submitter
Method: clinical testing
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Short-rib thoracic dysplasia 15 with polydactyly
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
Accession: SCV004806994.1
First in ClinVar: Apr 06, 2024 Last updated: Apr 06, 2024 |
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Likely pathogenic
(Mar 26, 2024)
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criteria provided, single submitter
Method: clinical testing
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Sitosterolemia 2
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
Accession: SCV004806995.1
First in ClinVar: Apr 06, 2024 Last updated: Apr 06, 2024 |
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Pathogenic
(Sep 01, 2013)
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criteria provided, single submitter
Method: research
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Sitosterolemia 1
(Autosomal recessive inheritance)
Affected status: no, yes
Allele origin:
germline
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Pediatric Genetics Division, Center for Pediatrics and Adolescent Medicine, University Medical Center Freiburg
Accession: SCV000257395.1
First in ClinVar: Oct 11, 2015 Last updated: Oct 11, 2015 |
Observation 1:
Family history: no
Sex: male
Ethnicity/Population group: European Caucasoid
Geographic origin: Turkey
Segregation observed: yes
Observation 2:
Family history: no
Sex: female
Ethnicity/Population group: European Caucasoid
Geographic origin: Turkey
Segregation observed: yes
Observation 3:
Family history: no
Sex: female
Ethnicity/Population group: European Caucasoid
Geographic origin: Turkey
Segregation observed: yes
Observation 4:
Family history: no
Sex: male
Ethnicity/Population group: European Caucasoid
Geographic origin: Turkey
Segregation observed: yes
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Pathogenic
(Sep 06, 2018)
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criteria provided, single submitter
Method: clinical testing
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Sitosterolemia
(Autosomal recessive inheritance)
Affected status: not provided
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000967651.1
First in ClinVar: Aug 26, 2019 Last updated: Aug 26, 2019 |
Comment:
The p.Arg446X variant in ABCG5 has been reported in at least 10 individuals with sitosterolemia, all of whom were homozygous or compound heterozygous, and segre … (more)
The p.Arg446X variant in ABCG5 has been reported in at least 10 individuals with sitosterolemia, all of whom were homozygous or compound heterozygous, and segre gated with disease in 7 affected family members from 4 families (Kratz 2007, Man nucci 2007, Togo 2009, Rios 2010, Niu 2010, Wang 2011, Park 2014, Wang 2014, Tad a 2015, Li 2016, Pek 2017, Buonuomo 2017, Fang 2018). This variant has also been identified in 0.09% (16/18858) of East Asian chromosomes by gnomAD (http://gnom ad.broadinstitute.org). However, this frequency is low enough to be consistent w ith a recessive carrier frequency. This nonsense variant leads to a premature te rmination codon at position 446, which is predicted to lead to a truncated or ab sent protein. Loss of function of the ABCG5 gene is an established disease mecha nism in autosomal recessive sitosterolemia; however, this condition is known to have variable expressivity and reduced penetrance. In summary, this variant meet s criteria to be classified as pathogenic for autosomal recessive sitosterolemia based on case observations, segregation studies, and predicted impact on protei n. ACMG/AMP criteria applied: PVS1, PM3_VeryStrong, PP1_Strong. (less)
Number of individuals with the variant: 1
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Pathogenic
(Sep 14, 2021)
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criteria provided, single submitter
Method: clinical testing
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Sitosterolemia 2
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV000893614.2
First in ClinVar: Mar 31, 2019 Last updated: Dec 31, 2022 |
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Pathogenic
(Apr 22, 2022)
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criteria provided, single submitter
Method: clinical testing
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Sitosterolemia 1
Affected status: yes
Allele origin:
germline
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Molecular Genetics, Royal Melbourne Hospital
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV002503718.2
First in ClinVar: Apr 30, 2022 Last updated: Apr 15, 2024 |
Comment:
This sequence change creates a premature termination codon at position 446 in exon 10 (of 13) of ABCG5 (p.Arg446*). It is expected to result in … (more)
This sequence change creates a premature termination codon at position 446 in exon 10 (of 13) of ABCG5 (p.Arg446*). It is expected to result in an absent or disrupted protein product. Loss of function is an established mechanism of disease for ABCG5 in autosomal recessive sitosterolaemia (PVS1). It is present in a large population cohort at a frequency of 0.02% (rs199689137, 48/282,080 alleles in gnomAD v2.1.1), and is most prevalent in the East Asian population with a frequency of 0.09% (17/19,940 alleles). The variant has been reported in multiple individuals diagnosed with sitosterolaemia, all of whom were homozygous or compound heterozygous with a second pathogenic variant in ABCG5 (PMID: 19111681, 20719861, 24166850, 26813946, 28521186 - PM3_VeryStrong), and segregated in affected family members in multiple families (PMID: 17976197, 24166850 - PP1_Strong). Based on the classification scheme RMH ACMG Guidelines v1.1.1, this variant is classified as PATHOGENIC. Following criteria are met: PVS1, PM3_VeryStrong, PP1_Strong. (less)
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Pathogenic
(Aug 01, 2023)
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criteria provided, single submitter
Method: clinical testing
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Cardiovascular phenotype
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV004061781.2
First in ClinVar: Oct 28, 2023 Last updated: May 01, 2024 |
Comment:
The c.1336C>T (p.R446*) alteration, located in exon 10 (coding exon 10) of the ABCG5 gene, consists of a C to T substitution at nucleotide position … (more)
The c.1336C>T (p.R446*) alteration, located in exon 10 (coding exon 10) of the ABCG5 gene, consists of a C to T substitution at nucleotide position 1336. This changes the amino acid from an arginine (R) to a stop codon at amino acid position 446. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from gnomAD, the T allele has an overall frequency of 0.017% (48/282080) total alleles studied. The highest observed frequency was 0.085% (17/19940) of East Asian alleles. This variant has been reported in the homozygous and compound heterozygous states in multiple individuals and families affected with sitosterolemia (Mannucci, 2007; Niu, 2010; Wang, 2014; Bazerbachi, 2017; Buonuomo, 2017; Veit, 2019; Wang, 2019; Frederiksen, 2021; Kaya, 2021; Zhang, 2022; Xia, 2022). Based on the available evidence, this alteration is classified as pathogenic. (less)
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Pathogenic
(Nov 15, 2010)
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no assertion criteria provided
Method: literature only
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SITOSTEROLEMIA 2
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000044733.3
First in ClinVar: Apr 04, 2013 Last updated: Nov 22, 2019 |
Comment on evidence:
Mannucci et al. (2007) reported a mother, daughter, and son with sitosterolemia (STSL2; 618666) who were homozygous for a 1336C-T transition in the ABCG5 gene … (more)
Mannucci et al. (2007) reported a mother, daughter, and son with sitosterolemia (STSL2; 618666) who were homozygous for a 1336C-T transition in the ABCG5 gene that was predicted to result in an arg446-to-ter (R446X) substitution. For discussion of the R446X mutation in the ABCG5 gene that was found in compound heterozygous state in a patient with sitosterolemia by Rios et al. (2010), see 605459.0007. (less)
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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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: SCV001966132.1 First in ClinVar: Oct 07, 2021 Last updated: Oct 07, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics, Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001978753.1 First in ClinVar: Oct 16, 2021 Last updated: Oct 16, 2021 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Clinical characteristics of sitosterolemic children with xanthomas as the first manifestation. | Zhang J | Lipids in health and disease | 2022 | PMID: 36229885 |
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia. | Xia Y | Journal of clinical lipidology | 2022 | PMID: 34969652 |
Misdiagnosis of sitosterolemia in a patient as Evans syndrome and familial hypercholesterolemia. | Qin M | Journal of clinical lipidology | 2022 | PMID: 34887220 |
Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients. | Kaya Z | Journal of clinical lipidology | 2021 | PMID: 34304999 |
Seventeen years of misdiagnosis in rare dyslipidaemia: a case report of sitosterolaemia in a young female. | Frederiksen TC | European heart journal. Case reports | 2021 | PMID: 34268478 |
Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing. | Miroshnikova VV | Biomedical reports | 2021 | PMID: 33269076 |
Whole exome sequencing for non-selective pediatric patients with hyperlipidemia. | Hu X | Gene | 2021 | PMID: 33217533 |
Heterozygous ABCG5 Gene Deficiency and Risk of Coronary Artery Disease. | Nomura A | Circulation. Genomic and precision medicine | 2020 | PMID: 32862661 |
ABCG5 and ABCG8 genetic variants in familial hypercholesterolemia. | Reeskamp LF | Journal of clinical lipidology | 2020 | PMID: 32088153 |
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias. | Dron JS | BMC medical genomics | 2020 | PMID: 32041611 |
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes. | Capalbo A | PLoS genetics | 2019 | PMID: 31589614 |
Sitosterolemia-10 years observation in two sisters. | Veit L | JIMD reports | 2019 | PMID: 31392106 |
[Clinical features of 20 patients with phytosterolemia causing hematologic abnormalities]. | Cao LJ | Zhonghua yi xue za zhi | 2019 | PMID: 31060161 |
Identification of the Germline Mutation Profile in Esophageal Squamous Cell Carcinoma by Whole Exome Sequencing. | Deng J | Frontiers in genetics | 2019 | PMID: 30833958 |
Severe aortic valve stenosis in a 14-year-old boy with sitosterolemia. | Wang Y | Journal of clinical lipidology | 2019 | PMID: 30528907 |
[Clinical, molecular genetic analysis, and treatment of 3 children with sitosterolemia]. | Fang D | Zhonghua er ke za zhi = Chinese journal of pediatrics | 2018 | PMID: 29886606 |
Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study. | Pek SLT | Atherosclerosis | 2018 | PMID: 29353225 |
Cryptogenic Cirrhosis and Sitosterolemia: A Treatable Disease If Identified but Fatal If Missed. | Bazerbachi F | Annals of hepatology | 2017 | PMID: 29055934 |
Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia. | Buonuomo PS | Atherosclerosis | 2017 | PMID: 28521186 |
Revisiting the morbid genome of Mendelian disorders. | Abouelhoda M | Genome biology | 2016 | PMID: 27884173 |
Against all odds: blended phenotypes of three single-gene defects. | Li Y | European journal of human genetics : EJHG | 2016 | PMID: 26813946 |
Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding. | Tada H | JIMD reports | 2015 | PMID: 25665839 |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. | Xiong HY | Science (New York, N.Y.) | 2015 | PMID: 25525159 |
Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant: case report and brief review. | Park JH | The Journal of clinical endocrinology and metabolism | 2014 | PMID: 24423340 |
Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia. | Wang Z | American journal of hematology | 2014 | PMID: 24166850 |
[Clinical and gene study of three pedigrees of phytosterolemia associated with macrothrombocytopenia and hemolysis]. | Wang GF | Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi | 2011 | PMID: 21729603 |
Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia. | Rios J | Human molecular genetics | 2010 | PMID: 20719861 |
Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children. | Niu DM | Journal of inherited metabolic disease | 2010 | PMID: 20521169 |
Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases. | Togo M | Clinica chimica acta; international journal of clinical chemistry | 2009 | PMID: 19111681 |
Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene. | Mannucci L | European journal of clinical investigation | 2007 | PMID: 17976197 |
Similar serum plant sterol responses of human subjects heterozygous for a mutation causing sitosterolemia and controls to diets enriched in plant sterols or stanols. | Kratz M | European journal of clinical nutrition | 2007 | PMID: 17228349 |
Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. | Lee MH | Nature genetics | 2001 | PMID: 11138003 |
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Text-mined citations for rs199689137 ...
HelpRecord last updated May 01, 2024
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.