Full data view for gene TSC1

The curator’s expert opinion on the classification of a variant, can be found in the
SUMMARY record. Regarding the classification, please note that where there are several
records of the same variant, the classification of that variant may differ depending on the
submitter’s conclusion.
Information The variants shown are described using the NM_000368.4 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Predict-BioInf     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.682C>T r.(?) p.(Arg228Ter) - - Unknown - pathogenic g.135796805G>A g.132921418G>A TSC1(NM_000368.4):c.682C>T (p.R228*) - TSC1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.682C>T r.(?) p.(Arg228*) Rho-activating domain - Unknown - pathogenic (dominant) g.135796805G>A g.132921418G>A - - TSC1_000037 somatic mosaicism not detected in lymphocytic DNA PubMed: Rose, 1999 - - Germline - - BsaXI+ - - DNA SSCA Blood - TSC - PubMed: Rose, 1999 parents reported as clinically unaffected; germ-line mosaicism of maternal origin ? - - - - - - - 1 Rosemary Ekong
+/. 8 c.682C>T r.(?) p.(Arg228*) Rho-activating domain - Unknown - pathogenic (dominant) g.135796805G>A g.132921418G>A - - TSC1_000037 - PubMed: Rendtorff, 2005 - - Unknown - 2/2 individuals tested have the variant BsaXI+ - - DNA PCRlr Blood - TSC - PubMed: Rendtorff, 2005 variant inherited; mildly affected father with mosaicism ? - - - - - - - 2 Rosemary Ekong
+/. 8 c.682C>T r.(?) p.(Arg228*) Rho-activating domain - Unknown - pathogenic (dominant) g.135796805G>A g.132921418G>A 903C>T - TSC1_000037 - PubMed: Young, 1998 - - Germline - - BsaXI+ - - DNA SSCA Blood - TSC - PubMed: Young, 1998 small family ? - - - - - - - 1 Rosemary Ekong
+/. 8 c.682C>T r.(?) p.(Arg228*) Rho-activating domain - Unknown - pathogenic (dominant) g.135796805G>A g.132921418G>A 903C>T - TSC1_000037 - PubMed: Kwiatkowska, 1998; PubMed: Dabora, 1998 - - Germline - - BsaXI+ - - DNA DGGE, SSCA Blood - TSC - PubMed: Kwiatkowska, 1998; PubMed: Dabora, 1998 - ? - - - - - - - 1 Rosemary Ekong
+/. 8 c.682C>T r.(?) p.(Arg228*) Rho-activating domain - Unknown - pathogenic (dominant) g.135796805G>A g.132921418G>A - - TSC1_000037 - PubMed: Au, 2007 - - Germline - 2/4 individuals tested have the variant BsaXI+ - - DNA SSCA Blood - TSC - PubMed: Au, 2007 variant present in affected sibling, but not in parents; germline mosaicism in either parent ? - - - - - - - 2 Rosemary Ekong
+/. 8 c.682C>T r.(?) p.(Arg228*) Rho-activating domain - Unknown - pathogenic (dominant) g.135796805G>A g.132921418G>A - - TSC1_000037 - PubMed: Au, 2007 - - Germline - - BsaXI+ - - DNA SSCA Blood - TSC - PubMed: Au, 2007 - ? - - - - - - - 1 Rosemary Ekong
+/. 8 c.682C>T r.(?) p.(Arg228*) Rho-activating domain - Unknown - pathogenic (dominant) g.135796805G>A g.132921418G>A - - TSC1_000037 - PubMed: Au, 2007 - - Unknown - - BsaXI+ - - DNA SEQ Blood - TSC - PubMed: Au, 2007 sporadic case ? - - - - - - - 1 Rosemary Ekong
+/. 8 c.682C>T r.(?) p.(Arg228*) Rho-activating domain - Unknown - pathogenic (dominant) g.135796805G>A g.132921418G>A 903C>T - TSC1_000037 - PubMed: Niida, 1999 - - Germline - - BsaXI+ - - DNA SSCA Blood - TSC - PubMed: Niida, 1999 - ? - - - - - - - 1 Rosemary Ekong
+/. 8 c.682C>T r.(?) p.(Arg228*) Rho-activating domain - Unknown - pathogenic (dominant) g.135796805G>A g.132921418G>A - - TSC1_000037 - unpublished - - Unknown - - BsaXI+ - - DNA DHPLC Blood - TSC - unpublished - ? - - - - - - - 1 Rosemary Ekong
+/. 8 c.682C>T r.(?) p.(Arg228*) Rho-activating domain - Unknown - pathogenic (dominant) g.135796805G>A g.132921418G>A - - TSC1_000037 - PubMed: Tsai, 2011 - - Unknown - - BsaXI+ - - DNA DHPLC, MCA Blood - TSC - PubMed: Tsai, 2011 sporadic case; patient is unrelated to the other patient with the same variant reported by the authors ? - Taiwan - - - - - 1 Rosemary Ekong
+/. 8 c.682C>T r.(?) p.(Arg228*) Rho-activating domain - Unknown - pathogenic (dominant) g.135796805G>A g.132921418G>A - - TSC1_000037 - PubMed: Tsai, 2011 - - Unknown - - BsaXI+ - - DNA DHPLC, MCA Blood - TSC - PubMed: Tsai, 2011 sporadic case; different patient, unrelated to the other reported in the same paper ? - Taiwan - - - - - 1 Rosemary Ekong
+/. 8 c.682C>T r.(?) p.(Arg228*) Rho-activating domain - Unknown - pathogenic (dominant) g.135796805G>A g.132921418G>A - - TSC1_000037 found with TSC1 missense c.3103G>A unpublished - - De novo - 1/3 individuals tested have the variant BsaXI+ - - DNA SEQ Blood - TSC - unpublished 1 affected in 1 generation; proband who is ?mosaic for a de novo TSC1 c.682C>T also has TSC1 missense c.3103G>A; TSC1 c.682C>T is absent in both parents but they were not tested for TSC1 missense c.3103G>A ? - - - - - - - 1 Rosemary Ekong
+/. 8 c.682C>T r.(?) p.(Arg228*) Rho-activating domain - Unknown - pathogenic (dominant) g.135796805G>A g.132921418G>A - - TSC1_000037 - unpublished - - Germline - 2/2 individuals tested have the variant BsaXI+ - - DNA SEQ Blood - TSC - unpublished seen in 2 affected individuals in 2 generations; variant cosegregates with TS in family ? - - - - - - - 2 Rosemary Ekong
+/. 8 c.682C>T r.(?) p.(Arg228*) Rho-activating domain - Unknown - pathogenic (dominant) g.135796805G>A g.132921418G>A - - TSC1_000037 - unpublished - - Germline - 2/2 individuals tested have the variant BsaXI+ - - DNA SEQ Blood - TSC - unpublished 2 affected individuals in 2 generations; variant cosegregates with TS in family ? - - - - - - - 2 Rosemary Ekong
+/. 8 c.682C>T r.(?) p.(Arg228*) Rho-activating domain - Unknown - pathogenic (dominant) g.135796805G>A g.132921418G>A - - TSC1_000037 - unpublished - - De novo - 1/3 individuals tested have the variant BsaXI+ - - DNA SEQ Blood - TSC - unpublished 1 affected individual in 1 generation; parents tested and variant not found ? - - - - - - - 1 Rosemary Ekong
+/. 8 c.682C>T r.(?) p.(Arg228*) Rho-activating domain - Unknown - pathogenic (dominant) g.135796805G>A g.132921418G>A - - TSC1_000037 found with TSC2 missense c.1040A>G and TSC2 silent variant c.1656A>G unpublished - - Unknown - - BsaXI+ - - DNA SEQ Blood - TSC - unpublished patient has TSC1 nonsense variant c.682C>T, TSC2 missense c.1040A>G and TSC2 silent variant c.1656A>G ? - - - - - - - 1 Rosemary Ekong
+/. 8 c.682C>T r.(?) p.(Arg228*) Rho-activating domain - Unknown - pathogenic (dominant) g.135796805G>A g.132921418G>A 903C/T - TSC1_000037 found with TSC2 silent variant c.2979G>A PubMed: Sancak, 2005 - - Unknown - - BsaXI+ - - DNA SEQ Blood - TSC - PubMed: Sancak, 2005 diagnosed with probable TSC; patient has TSC1 nonsense variant c.682C>T and TSC2 silent variant c.2979G>A ? - - - - - - - 1 Rosemary Ekong
+/. 8 c.682C>T r.(?) p.(Arg228*) Rho-activating domain - Unknown - pathogenic (dominant) g.135796805G>A g.132921418G>A - - TSC1_000037 - unpublished - - Unknown - - BsaXI+ - - DNA SEQ Blood - TSC - unpublished no clinical features indicated; parents not tested F - - - - - - - 1 Rosemary Ekong
+/. 8 c.682C>T r.(?) p.(Arg228*) Rho-activating domain - Unknown - pathogenic (dominant) g.135796805G>A g.132921418G>A - - TSC1_000037 - unpublished - - Unknown - - BsaXI+ - - DNA DHPLC, SEQ Blood - TSC - unpublished No other family member tested M - - - - - - - 1 Rosemary Ekong
+/. 8 c.682C>T r.(?) p.(Arg228*) Rho-activating domain - Unknown - pathogenic (dominant) g.135796805G>A g.132921418G>A - - TSC1_000037 - unpublished - - De novo - 1/3 individuals tested have the variant BsaXI+ - - DNA DHPLC, SEQ Blood - TSC - unpublished both parents tested negative F - - - - - - - 1 Rosemary Ekong
+/. 8 c.682C>T r.(?) p.(Arg228*) Rho-activating domain - Unknown - pathogenic (dominant) g.135796805G>A g.132921418G>A - - TSC1_000037 found with TSC2 silent variant c.2451C>T unpublished - - De novo - 1/5 individuals tested have the variant BsaXI+ - - DNA DHPLC, SEQ Blood - TSC - unpublished proband has TSC1 nonsense c.682C>T and TSC2 silent variant c.2451C>T; both parents and 2 siblings tested negative for TSC1 nonsense c.682C>T; inheritance of TSC2 c.2451C>T not indicated M - - - - - - - 1 Rosemary Ekong
+/. 8 c.682C>T r.(?) p.(Arg228*) Rho-activating domain - Unknown - pathogenic (dominant) g.135796805G>A g.132921418G>A - - TSC1_000037 found with TSC2 intronic variant c.5068+27_5069-47dup unpublished - - Unknown - - BsaXI+ - - DNA DHPLC, SEQ Blood - TSC - unpublished patient has TSC1 nonsense c.682C>T and TSC2 intronic variant c.5068+27_5069-47dup; no other family member tested M - - - - - - - 1 Rosemary Ekong
+/. 8 c.682C>T r.(?) p.(Arg228*) Rho-activating domain - Unknown - pathogenic (dominant) g.135796805G>A g.132921418G>A - - TSC1_000037 - PubMed: Rosset, 2017 - - Germline - 2/2 individuals tested have the variant BsaXI+ - - DNA SEQ-NG-IT Blood - TSC - PubMed: Rosset, 2017 - ? - Brazil - - - - - 2 Rosemary Ekong
+/. 8 c.682C>T r.(?) p.(Arg228*) Rho-activating domain - Unknown - pathogenic (dominant) g.135796805G>A g.132921418G>A - - TSC1_000037 - PubMed: Suspitsin, 2018 - - Unknown - - BsaXI+ - - DNA SEQ-NG-I Blood - TSC - PubMed: Suspitsin, 2018 43 year old index with clinical signs of TSC; DNA not available for parents F - Russia Slavic - - - - 1 Rosemary Ekong
+/+ 8 c.682C>T r.(?) p.(Arg228*) Rho-activating domain - Unknown - pathogenic (dominant) g.135796805G>A g.132921418G>A - - TSC1_000037 - - - - SUMMARY record - - BsaXI+ - - - - - - - - - - - - - - - - - - - -
+/. 8 c.682C>T r.(?) p.(Arg228*) Rho-activating domain - Unknown - pathogenic (dominant) g.135796805G>A g.132921418G>A - - TSC1_000037 - PubMed: Overwater, 2016 - - Germline ? - BsaXI+ - - DNA SEQ Blood - TSC - PubMed: Overwater, 2016 - ? ? - - - - - - 1 Rosemary Ekong
+/. 8 c.682C>T r.(?) p.(Arg228*) - - Unknown ACMG pathogenic (dominant) g.135796805G>A g.132921418G>A - - TSC1_000037 - PubMed: Ding, 2020 - - De novo - - - - - DNA SEQ - - TSC 10 PubMed: Ding, 2020 - M - China - - - - - 1 Yifeng Ding
+/. 8 c.682C>T r.(?) p.(Arg228*) Rho-activating domain - Unknown - pathogenic (dominant) g.135796805G>A g.132921418G>A 683C>T, R228X - TSC1_000037 - unpublished - - Germline ? - - - - DNA MCA, SEQ Blood - TSC - unpublished clinically affected; parents not tested F ? - - - - - - 1 Rosemary Ekong
+/. 8 c.682C>T r.(?) p.(Arg228*) - - Unknown ACMG pathogenic (dominant) g.135796805G>A g.132921418G>A - - TSC1_000037 - PubMed: Ogorek, 2020 - - Germline ? - - - - DNA SEQ-NG-I Blood Targeted massive parallel sequencing, mean target coverage of 327× to 1614× (median 716×) TSC 03-002 PubMed: Ogorek, 2020 infant; no history of TSC in the family; patient had first subclinical/clinical seizures at day 39 during the study M ? - - - - - - 1 Rosemary Ekong
+/. 8 c.682C>T r.(?) p.(Arg228*) - - Unknown ACMG pathogenic (dominant) g.135796805G>A g.132921418G>A - - TSC1_000037 - PubMed: Ogorek, 2020 - - Germline ? - - - - DNA SEQ-NG-I Blood Targeted massive parallel sequencing, mean target coverage of 327× to 1614× (median 716×) TSC 06-003 PubMed: Ogorek, 2020 infant; no history of TSC in the family; patient had first subclinical/clinical seizures at day 438 during the study M ? - - - - - - 1 Rosemary Ekong
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Assessment of functional consequences - Our conclusions on the functional consequences of variants are based on the type of variant, results of in vitro functional tests (doi: 10.1002/humu.21451; doi: 10.1002/humu.22202; doi: 10.1002/humu.23963), population frequencies, output from in silico splice site prediction algorithms, and any clinical/family data available to us. We also have output from protein prediction programs in this database for comparison purposes and they are not considered in our assessment of pathogenicity. PolyPhen Predictions - Note that these results are from PolyPhen-2 and only the HumDiv classification is shown.


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