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.

23 entries on 1 page. Showing entries 1 - 23.
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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     

Reference     

Remarks     

Gender     

Consanguinity     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.1904_1905del r.(?) p.(Thr635ArgfsTer52) - - Unknown - pathogenic g.135781063_135781064del g.132905676_132905677del TSC1(NM_000368.4):c.1904_1905delCA (p.T635Rfs*52) - TSC1_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 15 c.1904_1905del r.(?) p.(Thr635Argfs*52) - - Unknown - pathogenic (dominant) g.135781063_135781064del g.132905676_132905677del 2122-2125 del AC - TSC1_000223 2bp deletion of CA (according to HGVS nomenclature - 3' rule) described as deletion of AC unpublished - - Unknown - - - - - DNA DHPLC Blood - TSC - unpublished different case to that in Jones, 1997 ? - - - - - - - 1 Rosemary Ekong
+/. 15 c.1904_1905del r.(?) p.(Thr635Argfs*52) - - Unknown - pathogenic (dominant) g.135781063_135781064del g.132905676_132905677del 2122delAC - TSC1_000223 2bp deletion of CA (according to HGVS nomenclature - 3' rule) described as deletion of AC PubMed: van Slegtenhorst, 1997, PubMed: Kwiatkowska, 1998 - - Unknown - - - - - DNA HD Blood - TSC - PubMed: van Slegtenhorst, 1997, PubMed: Kwiatkowska, 1998 another sporadic case ? - - - - - - - 1 Rosemary Ekong
+/. 15 c.1904_1905del r.(?) p.(Thr635Argfs*52) - - Unknown - pathogenic (dominant) g.135781063_135781064del g.132905676_132905677del 2122delAC - TSC1_000223 2bp deletion of CA (according to HGVS nomenclature - 3' rule) described as deletion of AC PubMed: van Slegtenhorst, 1997, PubMed: Kwiatkowska, 1998; PubMed: Dabora, 1998 - - Unknown - - - - - DNA HD, DGGE Blood - TSC - PubMed: van Slegtenhorst, 1997, PubMed: Kwiatkowska, 1998; PubMed: Dabora, 1998 patient also has TSC1 c.210+33G>A ? - - - - - - - 1 Rosemary Ekong
+/. 15 c.1904_1905del r.(?) p.(Thr635Argfs*52) - - Unknown - pathogenic (dominant) g.135781063_135781064del g.132905676_132905677del c.1904_1905delCA - TSC1_000223 2bp deletion of CA PubMed: Au, 2007 - - Unknown - - - - - DNA SEQ Blood - TSC - PubMed: Au, 2007 sporadic case ? - - - - - - - 1 Rosemary Ekong
+/. 15 c.1904_1905del r.(?) p.(Thr635Argfs*52) - - Unknown - pathogenic (dominant) g.135781063_135781064del g.132905676_132905677del 2122delAC and as 2124-2125delAC - TSC1_000223 2bp deletion of CA (according to HGVS nomenclature - 3' rule) described as deletion of AC; variant missed in blinded study done by Dabora, 1998 PubMed: van Slegtenhorst, 1997, PubMed: Jones, 1997; PubMed: Dabora, 1998; PubMed: Dabora, 2001 - - Unknown - - - - - DNA DGGE, DHPLC, HD, SSCA Blood - TSC - PubMed: van Slegtenhorst, 1997, PubMed: Jones, 1997; PubMed: Dabora, 1998; PubMed: Dabora, 2001 sporadic case ? - - - - - - - 1 Rosemary Ekong
+/. 15 c.1904_1905del r.(?) p.(Thr635Argfs*52) - - Unknown - pathogenic (dominant) g.135781063_135781064del g.132905676_132905677del 2122delAC - TSC1_000223 2bp deletion of CA (according to HGVS nomenclature - 3' rule) described as deletion of AC PubMed: Hass, 2000 - - Unknown - - - - - DNA HD Blood - TSC - PubMed: Hass, 2000 sporadic case ? - - - - - - - 1 Rosemary Ekong
+/. 15 c.1904_1905del r.(?) p.(Thr635Argfs*52) - - Unknown - pathogenic (dominant) g.135781063_135781064del g.132905676_132905677del 2122delAC - TSC1_000223 2bp deletion of CA (according to HGVS nomenclature - 3' rule) described as deletion of AC PubMed: Hass, 2000 - - Unknown - - - - - DNA HD Blood - TSC - PubMed: Hass, 2000 2nd sporadic case ? - - - - - - - 1 Rosemary Ekong
+/. 15 c.1904_1905del r.(?) p.(Thr635Argfs*52) - - Unknown - pathogenic (dominant) g.135781063_135781064del g.132905676_132905677del 2124-2125delAC - TSC1_000223 2bp deletion of CA (according to HGVS nomenclature - 3' rule) described as deletion of AC PubMed: Niida, 1999 - - Unknown - - - - - DNA SSCA Blood - TSC - PubMed: Niida, 1999 sporadic case ? - - - - - - - 1 Rosemary Ekong
+/. 15 c.1904_1905del r.(?) p.(Thr635Argfs*52) - - Unknown - pathogenic (dominant) g.135781063_135781064del g.132905676_132905677del - - TSC1_000223 2bp deletion of CA PubMed: Jansen, 2008 - - Unknown - - - - - DNA SEQ Blood - TSC - PubMed: Jansen, 2008 - ? - - - - - - - 1 Rosemary Ekong
+/. 15 c.1904_1905del r.(?) p.(Thr635Argfs*52) - - Paternal (confirmed) - pathogenic (dominant) g.135781063_135781064del g.132905676_132905677del - - TSC1_000223 2bp Deletion of CA; reported as disease-associated mutation; entire TSC1 and TSC2 genes sequenced; TSC MLPA done unpublished - - Germline - 2/2 individuals tested have the variant - - - DNA MLPA, SEQ Blood - TSC - unpublished TS affected; the one parent tested is affected and also has the variant M - - - - - - - 2 Rosemary Ekong
+/. 15 c.1904_1905del r.(?) p.(Thr635Argfs*52) - - Paternal (confirmed) - pathogenic (dominant) g.135781063_135781064del g.132905676_132905677del c.1904_1905delCA - TSC1_000223 2bp Deletion of CA PubMed: Lee, 2014 - - Germline - 2/2 individuals tested have the variant - - - DNA SEQ Blood - TSC - PubMed: Lee, 2014 variant inherited from one of the parents who has no obvious clinical symptoms, although full work-up for TSC not performed for this parent ? - Korea - - - - - 2 Rosemary Ekong
+/. 15 c.1904_1905del r.(?) p.(Thr635Argfs*52) - - Unknown - pathogenic (dominant) g.135781063_135781064del g.132905676_132905677del - - TSC1_000223 2bp Deletion of CA unpublished - - De novo - 1/3 individuals tested have the variant - - - DNA DHPLC, SEQ Blood - TSC - unpublished both parents tested negative for variant F - - - - - - - 1 Rosemary Ekong
+/. 15 c.1904_1905del r.(?) p.(Thr635Argfs*52) - - Unknown - pathogenic (dominant) g.135781063_135781064del g.132905676_132905677del - - TSC1_000223 2bp Deletion of CA unpublished - - De novo - 1/3 individuals tested have the variant - - - DNA DHPLC, SEQ Amniocytes - TSC - unpublished prenatally diagnosed cardiac rhabdomyoma in index; both parents tested negative for the variant ? - - - - - - - 1 Rosemary Ekong
+/. 15 c.1904_1905del r.(?) p.(Thr635Argfs*52) - - Unknown - pathogenic (dominant) g.135781063_135781064del g.132905676_132905677del - - TSC1_000223 2bp Deletion of CA unpublished - - De novo - 1/3 individuals tested have the variant - - - DNA DHPLC, SEQ Blood - TSC - unpublished both parents tested negative for variant M - - - - - - - 1 Rosemary Ekong
+/+ 15 c.1904_1905del r.(?) p.(Thr635Argfs*52) - - Unknown - pathogenic (dominant) g.135781063_135781064del g.132905676_132905677del - - TSC1_000223 2bp deletion of CA - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 15 c.1904_1905del r.(?) p.(Thr635Argfs*52) - - Unknown ACMG pathogenic (dominant) g.135781063_135781064del g.132905676_132905677del - - TSC1_000223 - PubMed: Ding, 2020 - - De novo - - - - - DNA SEQ - - TSC 18 PubMed: Ding, 2020 - M - China - - - - - 1 Yifeng Ding
+/. 15 c.1904_1905del r.(?) p.(Thr635Argfs*52) - - Unknown - pathogenic (dominant) g.135781063_135781064del g.132905676_132905677del c.1904_1905delCA - TSC1_000223 - Unpublished - - Germline - - - - - DNA SEQ, SEQ-NG-I Blood - TSC - Unpublished No family history of TSC M ? - - - - - - 1 Rosemary Ekong
+/. 15 c.1904_1905del r.(?) p.(Thr635Argfs*52) - - Unknown - pathogenic (dominant) g.135781060_135781061del - - - TSC1_000223 2bp deletion of CA unpublished - - Germline ? - - - - DNA DHPLC, SEQ Blood Diagnostic testing TSC - unpublished No other family member tested M ? - - - - - - 1 Rosemary Ekong
+/. 15 c.1904_1905del r.(?) p.(Thr635Argfs*52) - - Maternal (confirmed) - pathogenic (dominant) g.135781060_135781061del g.132905673_132905674del 1903_1904delAC 2bp - TSC1_000223 2bp deletion of CA unpublished - - Germline yes 3/4 individuals tested have the variant - - - DNA MCA, SEQ Blood - TSC - unpublished clinical diagnosis TS; family history of TSC; one parent and a relative have the variant; another relative does not have the variant F ? - - - - - - 3 Rosemary Ekong
+/. 15 c.1904_1905del r.(?) p.(Thr635Argfs*52) - - Unknown - pathogenic (dominant) g.135781060_135781061del g.132905673_132905674del - - TSC1_000223 2bp deletion of CA; reported as mosaic unpublished - - Germline ? 1/2 individuals tested have the variant - - - DNA PCR, MCA, SEQ Blood - TSC - unpublished child of index with skin lesions and no other TS features does not have the variant; parents not tested M ? - - - - - - 1 Rosemary Ekong
+/. 15 c.1904_1905del r.(?) p.(Thr635Argfs*52) - - Unknown - pathogenic (dominant) g.135781060_135781061del g.132905673_132905674del p.(Thr635fs) - TSC1_000223 2bp deletion of CA; MLPA normal unpublished - - Germline ? - - - - DNA SEQ-NG-I, SEQ Blood Illumina TruSight Cancer panel used TSC - unpublished patient with ?clinical TSC; parents not tested F ? - - - - - - 1 Rosemary Ekong
+/. - c.1904_1905del r.(?) p.(Thr635ArgfsTer52) - - Unknown - pathogenic g.135781063_135781064del g.132905676_132905677del - - TSC1_000223 - PubMed: Salinas 2020 SUB7801449 - Unknown - - - - - DNA SEQ-NG - gene panel ? Pat55 PubMed: Salinas 2020 patient F - - - - - - - 1 Johan den Dunnen
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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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