Full data view for gene TSC2

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_000548.3 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
Legend   How to query  

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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 30i_42_ c.(3610+1_3611-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(2130379_2131595)_(2138713_?)del - NG_005895.1(NM_000548.4):c.(3610+1_3611-1)_(5260_*102)del; NG_008617.1(NM_001009944.2):c.(?_11411)_(12445_*1017)del - TSC2_002543 TSC2 exons 31-42 + PKD1 exons 46-40 deleted PubMed: Reyna-Fabián, 2020 - - Germline ? 1/2 individuals tested has the variant - - - DNA MLPA Blood - TSC ET183 PubMed: Reyna-Fabián, 2020 the one parent clinically examined and tested does not have the variant; other parent not available M - (Mexico) - - - - - 1 Rosemary Ekong
+/. 30i_42_ c.(3610+1_3611-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(2130379_2131595)_(2138713_?)del - NG_005895.1(NM_000548.4):c.(3610+1_3611-1)_(5260_*102)del; NG_008617.1(NM_001009944.2):c.(?_11411)_(12445_*1017)del - TSC2_002543 TSC2 exons 31-42 + PKD1 exons 46-40 deleted PubMed: Reyna-Fabián, 2020 - - Germline ? 1/3 individuals tested has the variant - - - DNA MLPA Blood - TSC ET1 PubMed: Reyna-Fabián, 2020 both parents clinically examined and tested; variant absent in both parents F - (Mexico) - - - - - 1 Rosemary Ekong
+/+ 30i_42_ c.(3610+1_3611-1)_(*102_?)del r.? p.? - - Unknown - pathogenic (dominant) g.(2130379_2131595)_(2138713_?)del - - - TSC2_002543 TSC2 exons 31-42 + PKD1 exons 46-40 deleted - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 30i_42_ c.(3610+1_3611-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(2130379_2131595)_(2138713_?)del - - - TSC2_002543 exons 31-42 deleted PubMed: Davis 2017 - - De novo - - - - - DNA SEQ Blood Clinical genetic testing TSC 12HW PubMed: Davis 2017 Infant M - United States - - - - - 1 Rosemary Ekong
+/. 30i_42_ c.(3610+1_3611-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(2130379_2131595)_(2138713_?)del - exons 30-41 deleted - TSC2_002543 exons 31-42 deleted; reported as predicted disease-associated mutation; found with TSC1 c.663+38del, TSC1 c.1701G>A, TSC2 missense c.2465C>T and TSC2 c.3126G>C; TSC1 & TSC2 sequenced; TSC MLPA done unpublished - - De novo - - - - - DNA MLPA, SEQ Blood - TSC - unpublished TS affected with TSC1 intronic variant c.663+38del, TSC1 silent variant c.1701G>A, TSC2 silent variant c.3126G>C, TSC2 missense c.2465C>T and TSC2 exons 30-41 deletion; TSC1 c.1701G>A and TSC2 c.3126G>C both inherited from one of the unaffected parents; both unaffected parents do not have the TSC2 exons 30-41 deletion; uncertain if other parent tested for other variants seen in index M - - - - - - - 2 Rosemary Ekong
+/. 30i_42_ c.(3610+1_3611-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(2130379_2131595)_(2138713_?)del g.(2080378_2081594)_(2088712_?)del ex36del; TSC2del e30-e41, [TSC2.32485_38081del5597; 38082_38156inv75;38157_40427del2271] - TSC2_002543 ex. 31-42 deletion refined to del 7,942bp with retention of inverted 74bp sequence from middle of deleted region; deletion flanked by TC & CTG, with MLT1B seq in proximal breakpoint (Kozlowski, 2007); previously reported as ex.37 del (Dabora, 2001) PubMed: Dabora, 2001, PubMed: Kozlowski, 2007 - - Germline - - - - - DNA MLPA, PCRq Blood - TSC ONK24-1 PubMed: Dabora, 2001, PubMed: Kozlowski, 2007 - ? - - - - - - - 1 Rosemary Ekong
+/. 30i_42_ c.(3610+1_3611-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(2130379_2131595)_(2138713_?)del g.(2080378_2081594)_(2088712_?)del - - TSC2_002543 129.8kb deletion involving TSC2 exons 31-42, entire PKD1 and 3 genes downstream from PKD1; TSC2 MLPA P046-B2 and Agilent SurePrint G3 400K human CGH microarrays used PubMed: Oyazato, 2011 - - Germline - - - - - DNA arrayCGH, MLPA Blood - ? Patient 1 PubMed: Oyazato, 2011 7yr old diagnosed with TSC and PKD at 2yrs old; no renal AML; no indication if parents tested ? - Japan - - - - - 1 Rosemary Ekong
+/. 30i_42_ c.(3610+1_3611-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(2130379_2131595)_(2138713_?)del g.(2080378_2081594)_(2088712_?)del exons 30-41 + PKD1 ex46 - TSC2_002543 contiguous TSC2/PKD1 gene deletion in index involving TSC2 exons 31-42 + PKD1 exon 46; variant not found in sibling; complete screen; MLPA kit P046B1 (TSC2) unpublished - - Germline - - - - - DNA MLPA, SEQ Blood - TSC - unpublished index has contiguous TSC2 and PKD1 deletion; variant in TS affected index is not present in sibling; no indication if parents tested; referred for familial mutation testing ? - - - - - - - 1 Rosemary Ekong
+/. 30i_42_ c.(3610+1_3611-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(2130379_2131595)_(2138713_?)del g.(2080378_2081594)_(2088712_?)del exons 30-41 deleted - TSC2_002543 contiguous TSC2/PKD1 gene deletion involving TSC2 exons 31-42 deleted and PKD1 exon 46; MLPA kits P124 (TSC1), P046 (TSC2) used unpublished - - De novo - - - - - DNA MLPA Blood - TSC - unpublished both parents and 2 siblings tested and variant not found; one parent has kidney cyst M - - - - - - - 1 Rosemary Ekong
+/. 30i_42_ c.(3610+1_3611-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(2130379_2131595)_(2138713_?)del g.(2080378_2081594)_(2088712_?)del deletion exons 30-41, c.3611-?_(*102+?)del - TSC2_002543 exons 31-42 deleted PubMed: Kwiatkowski, 2015 - - Germline - - - - - DNA MLPA Blood - TSC - PubMed: Kwiatkowski, 2015 patient has subependymal giant cell astrocytomas associated with tuberous sclerosis complex ? - - - - - - - 1 Rosemary Ekong
+/. 30i_42_ c.(3610+1_3611-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(2130379_2131595)_(2138713_?)del g.(2080378_2081594)_(2088712_?)del deletion exon 30 to 41 - TSC2_002543 exons 31-42 deleted unpublished - - De novo - - - - - DNA MLPA Blood - TSC - unpublished both parents tested negative for variant M - - - - - - - 1 Rosemary Ekong
+/. 30i_42_ c.(3610+1_3611-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(2130379_2131595)_(2138713_?)del g.(2080378_2081594)_(2088712_?)del deletion exon 30 to 41 - TSC2_002543 exons 31-42 deleted unpublished - - Germline - - - - - DNA MLPA Blood - TSC - unpublished No other family member tested M - - - - - - - 1 Rosemary Ekong
+/. 30i_42_ c.(3610+1_3611-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(2130379_2131595)_(2138713_?)del g.(2080378_2081594)_(2088712_?)del deletion ex 31-41 + PKD1 - TSC2_002543 deletion of TSC2 ex 31-42 + PKD1 (extent of PKD1 deletion undetermined); TSC2 MLPA kits P046-C1-1011 and P337-A2-0510 used Journal: 10.4236/ajmb.2014.43018 - - Germline - - - - - DNA MLPA Blood - TSC 890841 Journal: 10.4236/ajmb.2014.43018 patient with clinical diagnosis of TSC; no retinal cysts ? - Iran - - - - - 1 Rosemary Ekong
+/. 30i_42_ c.(3610+1_3611-1)_(*102_?)del r.? p.? - - Unknown ACMG pathogenic (dominant) g.(2130379_2131595)_(2138713_?)del - 3611_*881del, E31-42del - TSC2_002543 exons 31-42 deleted PubMed: Ding, 2020; PubMed: Ding, 2021 - - Germline - - - - - DNA arrayCNV Blood +WES TSC 6 PubMed: Ding, 2020; PubMed: Ding, 2021 TSC affected patient; parents also tested M no (China) - - - - - 1 Yifeng Ding
Legend   How to query  

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.


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.