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.

54 entries on 1 page. Showing entries 1 - 54.
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+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.0? p.0? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del NG_005895.1 (NM_000548.3): c.(-30+1_-29-1)_(*102_?)del - TSC2_001190 entire TSC2 coding exons (2-42) deleted PubMed: Peron 2018 - - Germline ? - - - - DNA MLPA Blood - TSC P111 PubMed: Peron 2018 - ? ? Italy - - - - - 1 Rosemary Ekong
+/+ _1i_42_ c.(?_-29-1)_(*102_?)del r.0? p.0? - - Unknown - pathogenic (dominant) g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del - - TSC2_001190 entire TSC2 coding exons (2-42) deleted - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del - - TSC2_001190 entire TSC2 gene deleted PubMed: Rendtorff, 2005 - - Germline - - - - - DNA MLPA, PCRq Blood - TSC - PubMed: Rendtorff, 2005 - ? - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del - - TSC2_001190 entire TSC2 gene deleted PubMed: Rendtorff, 2005 - - Germline - - - - - DNA MLPA, PCRq Blood - TSC - PubMed: Rendtorff, 2005 2nd patient reported in this paper ? - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del - - TSC2_001190 TSC2/PKD1 contiguous gene syndrome; loss of plasmid CW23 signal by FISH PubMed: Langkau, 2002 - - Germline - - - - - DNA FISH Blood - TSC T1867A PubMed: Langkau, 2002 2nd patient with multigene deletion ? - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del - - TSC2_001190 multigene deletion; TSC2/PKD1 contiguous gene syndrome; loss of plasmid CW23 signal by FISH PubMed: Langkau, 2002 - - Germline - - - - - DNA FISH Blood - TSC T2201M1 PubMed: Langkau, 2002 patient with TSC2/PKD1 contiguous gene syndrome ? - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del - - TSC2_001190 both TSC1 and TSC2 genes tested, TSC2 exons 2-42 deleted unpublished - - De novo - - - - - DNA MLPA, SEQ Blood - TSC - unpublished both parents tested and deletion not found; M - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del - - TSC2_001190 both TSC1 and TSC2 genes tested unpublished - - Germline - - - - - DNA MLPA, SEQ Blood - TSC - unpublished variant not found in the one parent tested M - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del - - TSC2_001190 both TSC1 and TSC2 genes tested unpublished - - Germline - - - - - DNA MLPA, SEQ Blood - TSC - unpublished - F - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del Ex1-Ex41del, also PKD1 Ex35 to Ex46 deleted - TSC2_001190 entire gene deleted (exons 2-42) including PKD1 exons 35-46 unpublished - - Germline - - - - - DNA MLPA Blood - TSC - unpublished TS affected F - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del c.(?_1)_(*_?)del - TSC2_001190 exons 2-42 deleted PubMed: Sancak, 2005 - - Germline - - - - - DNA MLPA Blood - TSC - PubMed: Sancak, 2005 diagnosed with definite TSC ? - - - - - - - 2 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del c.(?_1)_(*_?)del - TSC2_001190 exons 2-42 deleted unpublished - - Germline - - - - - DNA MLPA Blood - TSC - unpublished 2 different cases ? - - - - - - - 2 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del del ex. 1-41 - TSC2_001190 Germline variant also seen in periungual fibroma; entire TSC2 gene deleted; confirmed by Sanger SEQ; allele frequency in normal skin tissue = 0.5; MAF in tumor = 0.5; blood or saliva also tested; NGS median read-depth of >5000x PubMed: Tyburczy, 2014 - - Somatic - 0.5 - - - DNA, RNA SEQ-NG-I, MLPA, SEQ Tumour, Normal Skin - TSC P2 PubMed: Tyburczy, 2014 childhood onset and adult diagnosis of TSC F - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del exons 1-41 del + PKD1 exons 40 & 46 - TSC2_001190 contiguous TSC2/PKD1 gene deletion involving entire TSC2 gene + PKD1 ex 40 and 46; no small mutation detected but consistently reduced amplification of TSC2 exons 2-42 and PKD1 exons 40 & 46 unpublished - - De novo - - - - - DNA MLPA, SEQ Blood - TSC - unpublished both parents tested and reduced amplification not found; referred for diagnostic TS testing M - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del exons 1-41 + PKD1 ex 31-46 del - TSC2_001190 contiguous TSC2/PKD1 gene deletion involving entire TSC2 gene + PDK1 exons 31-46; complete screen; MLPA kits P124 (TSC1), P046 (TSC2), P351 & P352 (PKD1) unpublished - - De novo - - - - - DNA MLPA, SEQ Blood - TSC - unpublished both parents tested and variant not found M - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del exons 1-41del - TSC2_001190 contiguous TSC2/PKD1 gene deletion involving entire TSC2 + PKD1 ex 46; no variant found by sequencing; complete screen; MLPA kits P124 (TSC1), P046 (TSC2) unpublished - - Germline - - - - - DNA MLPA, SEQ Blood - TSC - unpublished index possibly a somatic mosaic; one parent tested has <3HMs and does not have the variant; other parent not tested M - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del exon 1-41 del - TSC2_001190 contiguous TSC2/PKD1 gene deletion involving entire TSC2 gene + PKD1 ex 46; complete screen; MLPA kits P124 (TSC1), P046 (TSC2) unpublished - - Germline - - - - - DNA MLPA, SEQ Blood - TSC - unpublished patient reported as possibly a somatic mosaic; parents not tested M - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del exons 1-41del - TSC2_001190 entire TSC2 gene deleted + PDK1 ex 46; complete screen; MLPA kits P124 (TSC1), P046 (TSC2) used unpublished - - De novo - - - - - DNA MLPA, SEQ Blood - ? - unpublished patient also has NF1 inherited from one parent; both parents tested and TSC2 deletion not found M - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del exons 1-41 deleted - TSC2_001190 entire TSC2 gene deleted + PDK1 ex 46; no variants found by sequencing; complete screen; MLPA kits P124 (TSC1), P046 (TSC2) used unpublished - - Germline - - - - - DNA MLPA, SEQ Blood - TSC - unpublished patient diagnosed with definite TS; both parents reported as phenotypically unaffected but not examined; parents not tested M - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del exon 1-41 deleted - TSC2_001190 contiguous TSC2/PKD1 gene deletion involving entire TSC2 + PKD1 exon 46; complete screen; MLPA kits P124 (TSC1), P046 (TSC2) used unpublished - - De novo - - - - - DNA MLPA, SEQ Blood - TSC - unpublished both parents tested and variant not found M - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del exons 1-41 del + PKD1 ex 1-46 - TSC2_001190 contiguous TSC2/PKD1 gene deletion involving entire TSC2 + PKD1 ex 1-46 + upstream of PKD1 (extend unknown); complete screen; MLPA kits P124 (TSC1), P046 (TSC2), P351 & P352 (PKD1) used unpublished - - Germline - - - - - DNA MLPA, SEQ Blood - ? - unpublished both parents reported as unaffected but not tested M - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del exons 1-41 deleted - TSC2_001190 entire TSC2 gene (exons 2-42) deleted; reported disease-associated mutation; only TSC2 MLPA done unpublished - - Germline - - - - - DNA MLPA Blood - TSC - unpublished TS affected F - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del TSC2 exons 1-41 deleted; PKD1 exons 1-46 deleted - TSC2_001190 entire TSC2 gene (exons 2-42) deleted; found with entire PKD1 gene deletion; TSC2 MLPA and complete PKDx screenings done unpublished - - Germline - - - - - DNA MLPA Blood - ? - unpublished TS affected with contiguous TSC2/PKD1 deletion; one unaffected parent tested and TSC2 deletion not found but PKD1 variant reported as 10254G>A found; PKD1 variant described as of unknown significance F - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del exons 1-41 deleted - TSC2_001190 exons 2-42 deleted; reported as predicted disease-associated mutation; entire TSC2 gene deleted; complete TSC1 and TSC2 genes tested; TSC MLPA done unpublished - - De novo - - - - - DNA MLPA Blood - TSC - unpublished TS affected; both parents reported as unaffected and tested; variant absent in both parents F - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del exons 1-41 deleted - TSC2_001190 exons 2-42 deleted; reported as disease-associated mutation; entire TSC2 gene deleted; complete TSC1 and TSC2 genes tested; TSC MLPA done unpublished - - Germline - - - - - DNA MLPA Blood - TSC - unpublished TS affected; the one parent tested is reported as unaffected and does not have the variant F - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del deletion exons 1-41, c.(?_-29)_(*102+?)del - TSC2_001190 exons 2-42 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
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del c.(?_-29)_(*102+?)del - TSC2_001190 exons 2-42 deleted PubMed: Kwiatkowski, 2015 - - Germline - - - - - DNA MLPA Blood - TSC - PubMed: Kwiatkowski, 2015 patient has TSC with AML ? - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del whole gene deletion - TSC2_001190 entire deletion of TSC2 gene (exons 2-42) PubMed: Lee, 2014 - - Germline - - - - - DNA MLPA Blood - TSC - PubMed: Lee, 2014 korean patient ? - Korea - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del whole gene/PKD1 gene deletion - TSC2_001190 deletion involving entire TSC2 gene (exons 2-42) and the PKD1 gene PubMed: Lee, 2014 - - Germline - - - - - DNA MLPA Blood - TSC - PubMed: Lee, 2014 korean patient ? - Korea - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del deletion exon 1 to 41 - TSC2_001190 exons 2-42 deleted unpublished - - Germline - - - - - DNA MLPA Blood - TSC - unpublished No other family member tested M - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del deletion exon 1 to 41 - TSC2_001190 exons 2-42 deleted unpublished - - Germline - - - - - DNA MLPA Blood - TSC - unpublished No other family member tested F - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del deletion exon 1 to 41 - TSC2_001190 exons 2-42 deleted unpublished - - Germline - - - - - DNA MLPA Blood - TSC - unpublished No other family member tested F - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del deletion exon 1 to 46 - TSC2_001190 exons 2-42 deleted + PKD1 exon 46 unpublished - - Germline - - - - - DNA MLPA Blood - TSC - unpublished patient has entire TSC2 gene deleted, including PKD1 exon 46; the one parent and a sibling tested are negative M - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del deletion exon 1 to 41 - TSC2_001190 exons 2-42 deleted unpublished - - De novo - - - - - DNA MLPA Amniocytes - TSC - unpublished prenatally diagnosed cardiac rhabdomyoma in proband; both parents and a sibling tested negative ? - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del deletion exon 1 to 41 - TSC2_001190 exons 2-42 deleted unpublished - - Germline - - - - - DNA MLPA Blood - TSC - unpublished No other family member tested F - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del deletion exon 1 to 41 - TSC2_001190 exons 2-42 deleted unpublished - - De novo - - - - - DNA MLPA Blood - TSC - unpublished prenatally diagnosed cardiac rhabdomyoma in proband; both parents tested negative for the variant ? - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del deletion exon 1 to 41 - TSC2_001190 exons 2-42 deleted unpublished - - De novo - - - - - DNA MLPA Blood - TSC - unpublished both parents tested negative F - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del deletion exon 1 to 41 - TSC2_001190 exons 2-42 deleted unpublished - - Germline - - - - - DNA MLPA Blood - TSC - unpublished No other family member tested M - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del deletion exon 1 to 41 - TSC2_001190 exons 2-42 deleted unpublished - - Germline - - - - - DNA MLPA Blood - TSC - unpublished affected parent is reported as negative; a sibling (TS status not indicated) also tested negative F - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del deletion TSC2 - TSC2_001190 exons 2-42 deleted unpublished - - Germline - - - - - DNA MLPA Blood - TSC - unpublished the one parent tested is negative for the variant F - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del deletion exon 1 to 41 - TSC2_001190 exons 2-42 deleted unpublished - - Germline - - - - - DNA MLPA Blood - TSC - unpublished sibling tested negative M - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del deletion exon 1 to 41 - TSC2_001190 exons 2-42 deleted unpublished - - De novo - - - - - DNA MLPA Blood - TSC - unpublished both parents tested negative M - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del exons 1-41 deleted - TSC2_001190 exons 2-42 deleted unpublished - - Germline - - - - - DNA MLPA Blood - TSC - unpublished patient with clinical diagnosis of TSC ? - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del exons 1-41 deleted - TSC2_001190 exons 2-42 deleted unpublished - - Germline - - - - - DNA MLPA Blood - TSC - unpublished patient with clinical diagnosis of TSC; one parent has TS but no indication if tested ? - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del exons 1-41 deleted - TSC2_001190 exons 2-42 deleted unpublished - - Germline - - - - - DNA MLPA Blood - TSC - unpublished patient with clinical diagnosis of TSC; no FH of TS; the one parent tested does not have the variant ? - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del c.(?_1)_(*_?)del - TSC2_001190 exons 2-42 deleted unpublished - - Germline - - - - - DNA SEQ Blood - TSC - unpublished - ? - - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del deletion ex 2-41 + PKD1 - TSC2_001190 deletion of TSC2 ex 2-42 + 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 890850 Journal: 10.4236/ajmb.2014.43018 patient with clinical diagnosis of TSC; no retinal cysts ? - Iran - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic (dominant) g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del deletion exons 1 to 41 and PKD1 exons 30, 40 and 46 - TSC2_001190 exons 2-42 deleted + PKD1 exons 30-46; found with TSC1 missense c.514G>A unpublished - - Germline ? - - - - DNA MLPA Blood Diagnostic testing, All exons for TSC1 and TSC2, exon 30, 40 and 46 only for PKD1 TSC - unpublished No other family member tested for either variant M ? - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic (dominant) g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del deletion exon 1 to 41 and PKD exon 30, 40 and 46 - TSC2_001190 exons 2-42 deleted + PKD1 exons 30-46 unpublished - - Germline ? - - - - DNA MLPA Blood Diagnostic testing, All exons for TSC1 and TSC2, exon 30, 40 and 46 only for PKD1 TSC - unpublished affected parent not tested F ? - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic (dominant) g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del deletion exons 1 to 41 - TSC2_001190 exons 2-42 deleted unpublished - - Germline ? - - - - DNA MLPA Blood Diagnostic testing, All exons for TSC1 and TSC2, exon 40 and 46 only for PKD1 tested TSC - unpublished No other family member tested M ? - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.? p.? - - Unknown - pathogenic (dominant) g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del deletion exons 1 to 41 - TSC2_001190 exons 2-42 deleted unpublished - - Germline ? - - - - DNA MLPA Blood Diagnostic testing, All exons for TSC1 and TSC2, exon 40 and 46 only for PKD1 tested TSC - unpublished No other family member tested F ? - - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.0? p.0? - - Unknown ACMG pathogenic (dominant) g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del E2-E42del - TSC2_001190 exons 2-42 deleted PubMed: Ding, 2021 - - Germline - - - - - DNA MLPA Blood - TSC 6 PubMed: Ding, 2021 TSC affected patient; reported that parents also tested M ? China - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.0? p.0? - - Unknown ACMG pathogenic (dominant) g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del E2-E42del - TSC2_001190 exons 2-42 deleted PubMed: Ding, 2021 - - Germline - - - - - DNA MLPA Blood - TSC 7 PubMed: Ding, 2021 TSC affected patient; reported that parents also tested F ? China - - - - - 1 Rosemary Ekong
+/. _1i_42_ c.(?_-29-1)_(*102_?)del r.0 p.0 - - Unknown - pathogenic (dominant) g.(?_2098587)_(2138713_?)del g.(?_2048586)_(2088712_?)del whole gene deletion - TSC2_001190 exons 2-42 deleted; extension of deletion into PKD1 ex46 uncertain as SNP in PKD1 (rs139573366) segregating in this family (in one parent and index) shows as a deletion in PKD1 ex46; TSC2 MLPA kit for exons 2-42 (reported as exons 1-41) + PKD1 ex46 only used unpublished - - De novo ? 1/3 individuals tested has the variant - - - DNA MLPA Blood - - - unpublished patient with clinical diagnosis of TSC; no family history of TSC; both parents tested and TSC2 c.(?_-29-1)_(*102_?)del is absent in both; one parent has a SNP in PKD1 (rs139573366) which shows as a deletion in PKD1 exon 46 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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