ClinVar Genomic variation as it relates to human health
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)
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_000548.5(TSC2):c.1832G>A (p.Arg611Gln)
Variation ID: 12397 Accession: VCV000012397.52
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 16p13.3 16: 2070571 (GRCh38) [ NCBI UCSC ] 16: 2120572 (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 Sep 16, 2013 May 12, 2024 Apr 1, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000548.5:c.1832G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000539.2:p.Arg611Gln missense NM_001077183.3:c.1832G>A NP_001070651.1:p.Arg611Gln missense NM_001114382.3:c.1832G>A NP_001107854.1:p.Arg611Gln missense NM_001318827.2:c.1721G>A NP_001305756.1:p.Arg574Gln missense NM_001318829.2:c.1685G>A NP_001305758.1:p.Arg562Gln missense NM_001318831.2:c.1232G>A NP_001305760.1:p.Arg411Gln missense NM_001318832.2:c.1865G>A NP_001305761.1:p.Arg622Gln missense NM_001363528.2:c.1832G>A NP_001350457.1:p.Arg611Gln missense NM_001370404.1:c.1832G>A NP_001357333.1:p.Arg611Gln missense NM_001370405.1:c.1832G>A NP_001357334.1:p.Arg611Gln missense NM_021055.3:c.1832G>A NP_066399.2:p.Arg611Gln missense NC_000016.10:g.2070571G>A NC_000016.9:g.2120572G>A NG_005895.1:g.26266G>A LRG_487:g.26266G>A LRG_487t1:c.1832G>A P49815:p.Arg611Gln - Protein change
- R611Q, R411Q, R622Q, R574Q, R562Q
- Other names
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- Canonical SPDI
- NC_000016.10:2070570: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.
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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
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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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TSC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10622 | 10797 |
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/Likely pathogenic (8) |
criteria provided, multiple submitters, no conflicts
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Mar 25, 2024 | RCV000013205.36 | |
Pathogenic (2) |
no assertion criteria provided
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May 23, 2000 | RCV000055317.6 | |
not provided (1) |
no classification provided
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- | RCV000042946.4 | |
Pathogenic (5) |
criteria provided, multiple submitters, no conflicts
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Apr 1, 2024 | RCV000414340.27 | |
Pathogenic (1) |
criteria provided, single submitter
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Jun 8, 2023 | RCV000491426.5 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Mar 2, 2022 | RCV000768118.4 |
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
(Jul 10, 2020)
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criteria provided, single submitter
Method: clinical testing
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Tuberous sclerosis 2
Affected status: yes
Allele origin:
germline
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Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University
Accession: SCV001423565.1
First in ClinVar: Jul 25, 2020 Last updated: Jul 25, 2020 |
Number of individuals with the variant: 1
Ethnicity/Population group: Japanese
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Pathogenic
(Apr 18, 2022)
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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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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV003799245.2
First in ClinVar: Feb 13, 2023 Last updated: Mar 04, 2023 |
Comment:
The TSC2 c.1832G>A; p.Arg611Gln variant (rs28934872) is described in the literature in several individuals with a clinical diagnosis of tuberous sclerosis complex, including the variant … (more)
The TSC2 c.1832G>A; p.Arg611Gln variant (rs28934872) is described in the literature in several individuals with a clinical diagnosis of tuberous sclerosis complex, including the variant occurring de novo in at least three individuals (Babol-Pokora 2021, Reyna-Fabian 2020, Suspitsin 2018). The variant is listed as pathogenic by several sources in the ClinVar database (Variation ID: 12397) and is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. The arginine at codon 611 is highly conserved, and computational analyses predict that this variant is deleterious (REVEL: 0.893). Functional studies indicate the variant disrupts the interaction with hamartin and inhibits phosphorylation (Hoogeveen-Westerveld 2011, Nellist 2005). Based on available information, this variant is classified as pathogenic. References: Babol-Pokora K et al. A multistep approach to the genotype-phenotype analysis of Polish patients with tuberous sclerosis complex. Eur J Med Genet. 2021 Oct;64(10):104309. PMID: 34403804. Hoogeveen-Westerveld M et al. Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. Hum Mutat. 2011 Apr;32(4):424-35. PMID: 21309039. Nellist M et al. Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex. Eur J Hum Genet. 2005 Jan;13(1):59-68. PMID: 15483652. Reyna-Fabian ME et al. First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants. Sci Rep. 2020 Apr 20;10(1):6589. PMID: 32313033. Suspitsin EN et al. Pattern of TSC1 and TSC2 germline mutations in Russian patients with tuberous sclerosis. J Hum Genet. 2018 May;63(5):597-604. PMID: 29476190. (less)
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Pathogenic
(Sep 15, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not provided
Affected status: yes
Allele origin:
unknown
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Illumina Laboratory Services, Illumina
Accession: SCV003802810.1
First in ClinVar: Feb 18, 2023 Last updated: Feb 18, 2023 |
Comment:
The TSC2 c.1832G>A (p.Arg611Gln) missense variant results in the substitution of arginine at amino acid position 611 with glutamine. Across a selection of available literature, … (more)
The TSC2 c.1832G>A (p.Arg611Gln) missense variant results in the substitution of arginine at amino acid position 611 with glutamine. Across a selection of available literature, the c.1832G>A variant has been reported in at least 17 individuals with tuberous sclerosis complex, with several described as occurring de novo (PMID: 9463313; PMID: 15595939; PMID: 22867869; PMID: 32555378). Another variant at the same amino acid position, c.1831C>T (p.Arg611Trp), has been reported in a heterozygous state in at least six individuals with tuberous sclerosis complex (PMID: 15595939; PMID: 22867869). The c.1832G>A variant is not found in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Functional analysis using mass spectrometry and coimmunoprecipitation determined the c.1832G>A variant is associated with loss of phosphorylation and is inactivated due to protein mis-folding (PMID: 15963462). This variant was identified in a de novo state. Based on the available evidence, the c.1832G>A (p.Arg611Gln) variant is classified as pathogenic for tuberous sclerosis complex. (less)
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Pathogenic
(Mar 30, 2021)
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criteria provided, single submitter
Method: clinical testing
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Lymphangiomyomatosis
Isolated focal cortical dysplasia type II Tuberous sclerosis 2
Affected status: unknown
Allele origin:
germline
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Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
Accession: SCV000899051.2
First in ClinVar: Apr 25, 2019 Last updated: May 06, 2023 |
Comment:
TSC2 NM_000548.4 exon 17 p.Arg611Gln (c.1832G>A): This variant has been reported in the literature in several individuals with tuberous sclerosis, at least one of whom … (more)
TSC2 NM_000548.4 exon 17 p.Arg611Gln (c.1832G>A): This variant has been reported in the literature in several individuals with tuberous sclerosis, at least one of whom was determined to be de novo (Au 1998 PMID:9463313, van Eeghen 2013 PMID:22867869, Overwater 2016 PMID:27406250). This variant is not present in large control databases. This variant is present in ClinVar, with several labs classifying this variant as pathogenic (Variation ID:12397). Evolutionary conservation and computational predictive tools predict that this variant may impact the protein. Additionally, in vitro functional studies further support an impact to the protein (Nellist 2001 PMID:11741832, Nellist 2005 PMID:15483652). Furthermore, another variant at this same codon (p.Arg611Trp) has been reported in the literature in association with disease and has been seen by our lab in an individual with tuberous sclerosis, further supporting that this region has significance. In summary, this variant is classified as pathogenic based on the data above. (less)
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Pathogenic
(Nov 20, 2023)
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criteria provided, single submitter
Method: clinical testing
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Tuberous sclerosis 2
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000544351.10
First in ClinVar: Sep 04, 2016 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 611 of the TSC2 protein (p.Arg611Gln). … (more)
This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 611 of the TSC2 protein (p.Arg611Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with tuberous sclerosis complex (PMID: 9463313, 10205261, 15595939, 17304050). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 12397). 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 TSC2 protein function. Experimental studies have shown that this missense change affects TSC2 function (PMID: 11741832, 15483652, 18854862, 21309039, 26703369). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Apr 01, 2024)
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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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CeGaT Center for Human Genetics Tuebingen
Accession: SCV001334512.20
First in ClinVar: Jun 08, 2020 Last updated: May 12, 2024 |
Comment:
TSC2: PM6:Strong, PM2, PM5, PS3:Moderate, PS4:Moderate, PP4
Number of individuals with the variant: 2
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Pathogenic
(Nov 01, 2016)
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criteria provided, single submitter
Method: clinical testing
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Tuberous sclerosis 2
Affected status: yes
Allele origin:
germline
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Center for Human Genetics, Inc, Center for Human Genetics, Inc
Accession: SCV000782399.1
First in ClinVar: May 26, 2018 Last updated: May 26, 2018 |
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Pathogenic
(Dec 04, 2017)
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criteria provided, single submitter
Method: clinical testing
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Tuberous sclerosis 2
Affected status: unknown
Allele origin:
germline
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Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
Accession: SCV000840073.1
First in ClinVar: Oct 10, 2018 Last updated: Oct 10, 2018 |
Comment:
This c.1832G>A (p.Arg611Gln) variant in the TSC2 gene has been reported in multiple unrelated individuals with Tuberous Sclerosis (PMID: 9463313, 10570911, 15595939). Functional studies have … (more)
This c.1832G>A (p.Arg611Gln) variant in the TSC2 gene has been reported in multiple unrelated individuals with Tuberous Sclerosis (PMID: 9463313, 10570911, 15595939). Functional studies have shown that the p.Arg611Gln mutant tuberin protein (encoded by the TSC2 gene) has decreased interaction with its binding partner, hamartin, and is unable to inhibit the mTOR pathway properly (PMID: 11741832, 15483652, 15963462, 18302728, 18308511, 21309039). The c.1832G>A variant in TSC2 is not present in the general population. This c.1832G>A (p.Arg611Gln) variant in the TSC2 gene is classified as pathogenic. (less)
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Pathogenic
(Jun 14, 2019)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Athena Diagnostics
Accession: SCV000615886.4
First in ClinVar: Jan 09, 2017 Last updated: Jan 26, 2021 |
Comment:
Not found in the total gnomAD dataset, and the data is high quality. This variant is statistically more frequent in affected individuals than in the … (more)
Not found in the total gnomAD dataset, and the data is high quality. This variant is statistically more frequent in affected individuals than in the general population and/or healthy controls. Predicted to have a damaging effect on the protein. Assessment of experimental evidence suggests this variant results in abnormal protein function. One de novo case with parental identity confirmed plus 1 unconfirmed case. (less)
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Pathogenic
(Nov 07, 2021)
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criteria provided, single submitter
Method: clinical testing
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Tuberous sclerosis 2
Affected status: no
Allele origin:
germline
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Genome-Nilou Lab
Accession: SCV002040940.1
First in ClinVar: Dec 25, 2021 Last updated: Dec 25, 2021 |
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Pathogenic
(Mar 02, 2022)
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criteria provided, single submitter
Method: clinical testing
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Lymphangiomyomatosis
Isolated focal cortical dysplasia type II Tuberous sclerosis 2
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002778170.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Pathogenic
(Nov 09, 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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GeneDx
Accession: SCV000491001.3
First in ClinVar: Jan 09, 2017 Last updated: Mar 04, 2023 |
Comment:
Functional studies indicate that R611Q disrupts the TSC1-TSC2 complex (Nellist et al., 2001; Nellist et al., 2005; Hoogeveen-Westerveld et al., 2011); Not observed at significant … (more)
Functional studies indicate that R611Q disrupts the TSC1-TSC2 complex (Nellist et al., 2001; Nellist et al., 2005; Hoogeveen-Westerveld et al., 2011); Not observed at significant frequency in large population cohorts (Lek et al., 2016); 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: 31447099, 27542907, 22867869, 15483652, 15798777, 11741832, 27216612, 26703369, 27406250, 29632054, 29129521, 29308833, 29476190, 16032769, 30293248, 31083211, 32555378, 31799751, 32340510, 32313033, 18466115, 30787465, 9463313, 32211034, 21309039) (less)
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Likely pathogenic
(Mar 25, 2024)
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criteria provided, single submitter
Method: research
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Tuberous sclerosis 2
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
Accession: SCV004805369.2
First in ClinVar: Mar 30, 2024 Last updated: Apr 06, 2024 |
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Pathogenic
(Jun 08, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000579587.7
First in ClinVar: Jun 25, 2017 Last updated: May 01, 2024 |
Comment:
The p.R611Q pathogenic mutation (also known as c.1832G>A), located in coding exon 16 of the TSC2 gene, results from a G to A substitution at … (more)
The p.R611Q pathogenic mutation (also known as c.1832G>A), located in coding exon 16 of the TSC2 gene, results from a G to A substitution at nucleotide position 1832. The arginine at codon 611 is replaced by glutamine, an amino acid with some highly similar properties. This pathogenic mutation has been shown to inactivate the tuberin-hamartin complex, disrupt the ability of the tuberin protein to chaperone the hamartin protein throughout the cell, disrupt the phosphorylation of the tuberin protein and several downstream target proteins, and to cause the loss of GTPase activity stimulation (Nellist M et al. Hum. Mol. Genet. 2001 Dec; 10(25):2889-98; Nellist M et al. Eur. J. Hum. Genet. 2005 Jan; 13(1):59-68). This pathogenic mutation has been reported as a de novo finding in unrelated individuals with tuberous sclerosis complex (TSC) (Au KS et al. Am. J. Hum. Genet. 1998 Feb; 62(2):286-94), and has also been reported in multiple individuals diagnosed with TSC and infantile spasms (van Eeghen AM et al. Epilepsy Res. 2013 Jan; 103(1):83-7). Another alteration at this codon, p.R611W (c.1831C>T), has also been classified as a pathogenic mutation in the literature (Nellist M et al. Hum. Mol. Genet. 2001 Dec; 10(25):2889-98; Nellist M et al. Eur. J. Hum. Genet. 2005 Jan; 13(1):59-68). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. (less)
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Pathogenic
(May 23, 2000)
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no assertion criteria provided
Method: literature only
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TUBEROUS SCLEROSIS 2
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000033452.2
First in ClinVar: Apr 04, 2013 Last updated: Sep 04, 2016 |
Comment on evidence:
In 2 unrelated patients with tuberous sclerosis (613254), Au et al. (1998) found a 1832G-A transition in exon 16 of the TSC2 gene, predicted to … (more)
In 2 unrelated patients with tuberous sclerosis (613254), Au et al. (1998) found a 1832G-A transition in exon 16 of the TSC2 gene, predicted to cause an arg611-to-gln (R611Q) amino acid substitution in the protein. A change in the same codon had been reported in a patient with tuberous sclerosis by Wilson et al. (1996). In tissues from 2 unrelated patients with pulmonary lymphangioleiomyomatosis (606690), Carsillo et al. (2000) identified an 1832G-A transition in exon 16 of the TSC2 gene, resulting in an arg611-to-gln mutation. In 1 patient the tissue studied was kidney angiomyolipoma; in the other, both kidney and pulmonary tumors were studied. (less)
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Pathogenic
(May 23, 2000)
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no assertion criteria provided
Method: literature only
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LYMPHANGIOLEIOMYOMATOSIS, SOMATIC
Affected status: not provided
Allele origin:
somatic
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OMIM
Accession: SCV000033453.3
First in ClinVar: Apr 04, 2013 Last updated: Sep 04, 2016 |
Comment on evidence:
In 2 unrelated patients with tuberous sclerosis (613254), Au et al. (1998) found a 1832G-A transition in exon 16 of the TSC2 gene, predicted to … (more)
In 2 unrelated patients with tuberous sclerosis (613254), Au et al. (1998) found a 1832G-A transition in exon 16 of the TSC2 gene, predicted to cause an arg611-to-gln (R611Q) amino acid substitution in the protein. A change in the same codon had been reported in a patient with tuberous sclerosis by Wilson et al. (1996). In tissues from 2 unrelated patients with pulmonary lymphangioleiomyomatosis (606690), Carsillo et al. (2000) identified an 1832G-A transition in exon 16 of the TSC2 gene, resulting in an arg611-to-gln mutation. In 1 patient the tissue studied was kidney angiomyolipoma; in the other, both kidney and pulmonary tumors were studied. (less)
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not provided
(-)
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no classification provided
Method: curation
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TSC
Affected status: yes
Allele origin:
germline
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Tuberous sclerosis database (TSC2)
Accession: SCV000066743.3
First in ClinVar: May 03, 2013 Last updated: Sep 16, 2013 |
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not provided
(-)
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no classification provided
Method: curation
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LAM
Affected status: yes
Allele origin:
germline
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Tuberous sclerosis database (TSC2)
Accession: SCV000083537.2
First in ClinVar: Sep 16, 2013 Last updated: Jul 25, 2014 |
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not provided
(-)
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no classification provided
Method: not provided
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not provided
Affected status: not provided
Allele origin:
unknown
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SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation
Accession: SCV000090404.1
First in ClinVar: Jan 02, 2014 Last updated: Jan 02, 2014
Comment:
test comment3
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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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Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex. | Rosengren T | Scientific reports | 2020 | PMID: 32555378 |
Pattern of TSC1 and TSC2 germline mutations in Russian patients with tuberous sclerosis. | Suspitsin EN | Journal of human genetics | 2018 | PMID: 29476190 |
Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis. | Ekong R | Human mutation | 2016 | PMID: 26703369 |
Central TSC2 missense mutations are associated with a reduced risk of infantile spasms. | van Eeghen AM | Epilepsy research | 2013 | PMID: 22867869 |
The TSC1-TSC2 complex consists of multiple TSC1 and TSC2 subunits. | Hoogeveen-Westerveld M | BMC biochemistry | 2012 | PMID: 23006675 |
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. | Hoogeveen-Westerveld M | Human mutation | 2011 | PMID: 21309039 |
A reliable cell-based assay for testing unclassified TSC2 gene variants. | Coevoets R | European journal of human genetics : EJHG | 2009 | PMID: 18854862 |
Pam (Protein associated with Myc) functions as an E3 ubiquitin ligase and regulates TSC/mTOR signaling. | Han S | Cellular signalling | 2008 | PMID: 18308511 |
Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex. | Nellist M | BMC medical genetics | 2008 | PMID: 18302728 |
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. | Au KS | Genetics in medicine : official journal of the American College of Medical Genetics | 2007 | PMID: 17304050 |
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. | Jansen AC | Annals of neurology | 2006 | PMID: 17120248 |
TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase. | Chong-Kopera H | The Journal of biological chemistry | 2006 | PMID: 16464865 |
Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations. | Rendtorff ND | Human mutation | 2005 | PMID: 16114042 |
Precise prenatal diagnosis of tuberous sclerosis by sequencing the TSC2 gene. | Milunsky A | Prenatal diagnosis | 2005 | PMID: 16032769 |
Phosphorylation and binding partner analysis of the TSC1-TSC2 complex. | Nellist M | Biochemical and biophysical research communications | 2005 | PMID: 15963462 |
Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex. | Ali M | Acta neurologica Scandinavica | 2005 | PMID: 15595939 |
Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex. | Nellist M | European journal of human genetics : EJHG | 2005 | PMID: 15483652 |
TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex. | Nellist M | Human molecular genetics | 2001 | PMID: 11741832 |
Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis. | Carsillo T | Proceedings of the National Academy of Sciences of the United States of America | 2000 | PMID: 10823953 |
Complete inactivation of the TSC2 gene leads to formation of hamartomas. | Au KS | American journal of human genetics | 1999 | PMID: 10577937 |
Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex. | Zhang H | Journal of human genetics | 1999 | PMID: 10570911 |
Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. | Jones AC | American journal of human genetics | 1999 | PMID: 10205261 |
Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis. | Beauchamp RL | Human mutation | 1998 | PMID: 9829910 |
Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients. | Au KS | American journal of human genetics | 1998 | PMID: 9463313 |
Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. | Wilson PJ | Human molecular genetics | 1996 | PMID: 8824881 |
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Text-mined citations for rs28934872 ...
HelpRecord last updated May 19, 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.