Unique variants in gene APC


Information The variants shown are described using the NM_000038.5 transcript reference sequence.

1684 entries on 17 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

Exon_old     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

CodonNr     

Predicted     

Predict/PolyPhenScore     

Type/DNA     

Method     

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     

Owner     
?/. 1 _1 Promotor c.-30461T>G VUS r.(?) p.? - - - substitution screen APC gene (index patient) g.112043180T>G g.112707483T>G -47408T>G - APC_000418 numbering 5' of ATG - - - Unknown ? - - - - Elke Holinski-Feder
?/? 1 _1 Promotor c.-30361_-30360insG VUS r.(?) p.? - - - - screen APC gene (index patient) g.112043280_112043281insG g.112707583_112707584insG -47307insG - APC_000417 numbering 5' of ATG - - - Unknown ? - - - - Elke Holinski-Feder
?/? 1 _1 Promotor c.-30359C>G VUS r.(?) p.? - - - substitution screen APC gene (index patient) g.112043282C>G g.112707585C>G -47306C>G (5' of ATG) - APC_000415 numbering 5' of ATG - - - Unknown ? - - - - Elke Holinski-Feder
?/? 1 _1 Promotor c.-30340C>T VUS r.(?) p.? - - - substitution screen APC gene (index patient) g.112043301C>T g.112707604C>T -47287C>T - APC_000416 numbering 5' of ATG - - - Unknown ? - - - - Elke Holinski-Feder
+/. 1 P_1_3i promoter 1B c.-12246_-18-7285delinsTGCTCTATGACCAATT pathogenic r.(?) p.? - deletion, large - deletion, large unknown g.112061395_112083285delinsTGCTCTATGACCAATT g.112725697_112747588delinsTTGCTCTATGACCAATT g.112,061,394_112,083,285del 21,890 insTTGCTCTATGACCAATT - APC_001246 - - - - Germline ? - - - - Tanya Kadiyska
+/. 1 _1 - c.-190G>A pathogenic r.(?) p.(=) - - - substitution screen APC gene (index patient) g.112073451G>A - - - APC_001802 - - - - Germline - - - - - Emma Short
+/+ 3 P_1_4i 1i+promoter c.(?_-85)_(135+1_136-1)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient), test known APC variant (relative) g.(?_112073556)_(112090723_112102022)del - -85-?_135+?del - APC_000526 - PubMed: Aretz et al. 2005 - - Germline ? - - - - Stefan Aretz
+/+ 4 P_1_8i 1_5+promoter, 1_5+promotor c.(?_-85)_(645+1_646-1)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient), test known APC variant (relative) g.(?_112073556)_(112116601_112128142)del - -85-?_645+?del - APC_000527 - PubMed: Aretz et al. 2005, PubMed: Nielsen et al. 2007a; PubMed: Nielsen et al. 2007b - - Germline ? - - - - Stefan Aretz
+/+ 2 P_1_10i 1_7i+promoter c.(?_-85)_(834+1_835-1)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient), test known APC variant (relative) g.(?_112073556)_(112137081_112151191)del - -85-?_834+?del - APC_000528 - PubMed: Aretz et al. 2005 - - Germline, Unknown ? - - - - Stefan Aretz
+/+ 3 P_1_13i 1_10i+promoter c.(?_-85)_(1408+1_1409-1)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient), test known APC variant (relative) g.(?_112073556)_(112157689_112162804)del - g.35041-?_119471+?del - APC_000529 - PubMed: Aretz et al. 2005 - - Germline ? - - - - Stefan Aretz
+/+, +/. 25 P_1_18_, P_1_18 1_15+promoter, _15+promoter, 1_15+promotor c.(?_-85)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient), test known APC variant (relative) g.(?_112073556)_(112179824_?)del - g.35041-?_141606+?del, (?_30)_(*220_?)del whole allele, [?_30)_(*220_?)del whole allele, 3 more items - APC_000200 cytogenetic deletion, Deletion entire APC gene PubMed: Rivera et al. 2010, PubMed: Aceto et al. 2005, PubMed: Gómez-Fernández et al. 2009, 5 more items - - Germline, De novo, Unknown, Germline/De novo (untested) ? - - - - Stefan Aretz, Grigorij Yanus, Carli Tops
+/+ 55 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? del deletion, large - deletion, large screen APC gene (index patient), test known APC variant (relative) g.(112073623_112090569)_(112090723_112102022)del - 423-?_531+?del, g.65185_65788del, exon 4 deletion - APC_000534 - Aretz and Friedl (unpublished), PubMed: Gómez-Fernández et al. 2009, PubMed: Soravia et al. 1998, 2 more items - - Germline, De novo ? - - - - Stefan Aretz
+/+ 1 3i_10i 1_7i c.(-19+1_-18-1)_(834+1_835-1)del pathogenic r.? p.0? del deletion, large - deletion, large unknown g.(112073623_112090569)_(112137081_112151191)del - - - APC_000738 - - - - Unknown ? - - - - Maurizio Genuardi
+/+ 51 _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del pathogenic r.0 p.0 del deletion, large - deletion, large screen APC gene (index patient), test known APC variant (relative) g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del, g.63806-?_141606+?del, g.52371-?_141606+?del, g.26940-?_133343+?del - APC_000531, APC_000532 - PubMed: Aretz et al. 2005, Aretz and Friedl (unpublished), PubMed: Gómez-Fernández et al. 2009, 4 more items - - Unknown, Germline, De novo ? - - - - Stefan Aretz
+/+ 1 4 1 c.70C>T pathogenic r.(?) p.(Arg24*) 24 nonsense - substitution screen APC gene (index patient) g.112090657C>T g.112754960C>T - - APC_000551 - PubMed: Kanter-Smoler et al. 2008 - - Unknown ? - - - - Stefan Aretz
?/. 1 - - c.95A>G VUS r.(?) p.(Asn32Ser) - - - - - g.112090682A>G - APC:c.95A>G (N32S) - APC_001643 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 4 - c.104del pathogenic r.(?) p.(Thr35Lysfs*10) - - - deletion - g.112090691del g.112754994del - - APC_001266 - - - - Germline - - - - - Andreas Laner
-/. 2 3i - c.136-53T>C benign r.(?) p.(=) - - - - - g.112101970T>C - - - APC_001755 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - Angela Solano & F Cardoso
+/. 1 4i_6i - c.(135+1_136-1)_(422+1_423-1)dup pathogenic r.? p.? - - - - - g.(112090723_112102022)_(112103088_112111325)dup - duplication ex5-6 - APC_001753 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - Angela Solano & F Cardoso
+/+ 1 5 2 c.145A>T pathogenic r.(?) p.(Lys49*) 49 nonsense - substitution screen APC gene (index patient) g.112102032A>T g.112766335A>T - - APC_000419 - - - - Unknown ? - - - - Elke Holinski-Feder
+/+ 3 5 2 c.147_150del pathogenic r.(?) p.(Lys49Asnfs*20) 49 frameshift - deletion, small screen APC gene (index patient) g.112102034_112102037del g.112766337_112766340del 145_148delAAAC - APC_001029 - PubMed: Rivera et al. 2010, PubMed: Gómez-Fernández et al. 2009 - - Germline ? - - - - Stefan Aretz
+/. 1 - - c.218_219insTA pathogenic r.(?) p.(Lys73Asnfs*6) - frameshift - insertion, small complete sequencing APC gene g.112102105_112102106insTA g.112766408_112766409insTA - - APC_001632 - - - - De novo - - - - - Grigorij Yanus
+/? 1 5 2 c.220G>A pathogenic r.136_220del p.Glu46Serfs*4 74 splicing affected - substitution screen APC gene (index patient) g.112102107G>A g.112766410G>A - - APC_001527 - Aretz and Spier unpublished - - Unknown ? - - - - Stefan Aretz
+/+ 1 5 2 c.220G>T pathogenic r.(?) p.(Glu74*) 74 nonsense - substitution screen APC gene (index patient) g.112102107G>T g.112766410G>T - - APC_001030 - PubMed: Stekrova et al. 2007 - - Germline ? - - - - Stefan Aretz
-?/. 1 - - c.220+10A>T likely benign r.(=) p.(=) - - - - - g.112102117A>T - APC:c.220+10A>T - APC_001756 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/? 1 5i 2i c.221-14T>G VUS r.(?) p.? - splicing affected - substitution screen APC gene (index patient) g.112102872T>G g.112767175T>G IVS3-14T>G - APC_001032 - PubMed: Plawski et Slomski 2008 - - Unknown ? - - - - Stefan Aretz
?/. 1 5i - c.221-11A>G VUS r.(?) p.? - - - substitution - g.112102875A>G g.112767178A>G - - APC_001267 - - - - Germline - - - - - Andreas Laner
?/+ 1 5i 2i c.221-1G>C pathogenic r.spl p.? - splicing affected - substitution screen APC gene (index patient) g.112102885G>C g.112767188G>C IVS3-1G>C - APC_001031 - PubMed: Plawski et Slomski 2008 - - Unknown ? - - - - Stefan Aretz
+/+ 1 6 3 c.230T>G pathogenic r.(?) p.(Leu77*) 77 nonsense - substitution screen APC gene (index patient) g.112102895T>G g.112767198T>G - - APC_001033 - PubMed: Stekrova et al. 2007 - - Unknown ? - - - - Stefan Aretz
?/? 1 6 3 c.245T>C VUS r.(?) p.(Phe82Ser) 82 missense - substitution screen APC gene (index patient) g.112102910T>C g.112767213T>C - - APC_000647 - Carli Tops (unpublished) - - Unknown ? - - - - Carli Tops
+/+ 1 6 3 c.250G>T pathogenic r.(?) p.(Arg84*) 84 nonsense - substitution screen APC gene (index patient) g.112102915G>T g.112767218G>T 250G>T - APC_001526 - PubMed: Lagarde et al. 2010 - - Unknown ? - - - - Stefan Aretz
?/? 1 6 3 c.262C>T VUS r.(?) p.(Arg88Trp) 88 missense - substitution screen APC gene (index patient) g.112102927C>T g.112767230C>T - - APC_000648 - Carli Tops (unpublished) - - Unknown ? - - - - Carli Tops
+/+, ?/+ 3 6 3 c.266C>A pathogenic, VUS r.(?) p.(Ser89*) 89 nonsense - substitution screen APC gene (index patient) g.112102931C>A g.112767234C>A - - APC_000741 - - - - Unknown, Germline ? - - - - Elke Holinski-Feder, Andreas Laner
-?/. 1 - - c.277C>G likely benign r.(?) p.(Leu93Val) - - - - - g.112102942C>G - APC:c.277C>G (L93V) - APC_001644 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 6 3 c.281_282insC pathogenic r.(?) p.(Ser95Phefs*44) 94 frameshift - insertion, small screen APC gene (index patient) g.112102946_112102947insC g.112767249_112767250insC - - APC_001034 - PubMed: Rivera et al. 2010 - - De novo ? - - - - Stefan Aretz
+/+ 3 6 3 c.288T>A pathogenic r.(?) p.(Tyr96*) 96 nonsense - substitution screen APC gene (index patient) g.112102953T>A g.112767256T>A 288T>A - APC_001248 - - - - Unknown, Germline ? - - - - Stefan Aretz, A.Z. Ibrahim
+/+ 2 6 3 c.288T>G pathogenic r.(?) p.(Tyr96*) 96 nonsense - substitution screen APC gene (index patient) g.112102953T>G g.112767256T>G 288T>G - APC_001525 - PubMed: Lagarde et al. 2010 - - Unknown ? - - - - Stefan Aretz
+/+ 1 6 3 c.288_289insCC pathogenic r.(?) p.(Gly97Profs*29) 97 frameshift - insertion, small screen APC gene (index patient) g.112102953_112102954insCC g.112767256_112767257insCC - - APC_001035 - PubMed: Stekrova et al. 2007 - - Unknown ? - - - - Stefan Aretz
+/+ 1 6 3 c.289G>T pathogenic r.(?) p.(Gly97*) 97 nonsense - substitution screen APC gene (index patient) g.112102954G>T g.112767257G>T - - APC_000649 - Carli Tops (unpublished) - - Germline ? - - - - Carli Tops
+/+ 1 6 3 c.294_301del pathogenic r.(?) p.(Ser98Argfs*38) 98 frameshift - deletion, small screen APC gene (index patient) g.112102959_112102966del g.112767262_112767269del 294_301delCCGGGAAG - APC_001036 - PubMed: Hutter et al. 2001 - - Germline ? - - - - Stefan Aretz
?/?, ?/., -/. 9 6 3 c.295C>T VUS, benign r.(?) p.(Arg99Trp) 99 missense - substitution screen APC gene (index patient) g.112102960C>T g.112767263C>T codon 99, CGG --> TGG, APC:c.295C>T (R99W), APC:NM_000038.4:c.295C>T (Arg99Trp) - APC_000420 rare variant, VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Dobbie et al. 1996, Vogt and Aretz (unpublished), Carli Tops (unpublished) - - Germline, Unknown, CLASSIFICATION record ? - - - - Elke Holinski-Feder, Stefan Aretz, Carli Tops, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - - c.296G>A VUS r.(?) p.(Arg99Gln) - - - - - g.112102961G>A - APC:NM_000038.5:c.296G>A (Arg99Gln) - APC_001719 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 6 3 c.298G>T pathogenic r.(?) p.(Glu100*) 100 nonsense - substitution screen APC gene (index patient) g.112102963G>T g.112767266G>T - - APC_000421 - - - - Unknown ? - - - - Elke Holinski-Feder
+/+ 3 6 3 c.301G>T pathogenic r.(?) p.(Gly101*) 101 nonsense - substitution test known APC variant (relative), screen APC gene (index patient) g.112102966G>T g.112767269G>T - - APC_000344 - Vogt and Aretz (unpublished), Aretz and Friedl (unpublished), Aretz and Spier unpublished - - Germline, Unknown ? - - - - Stefan Aretz
+/+ 1 6 3 c.311C>G pathogenic r.(?) p.(Ser104*) 104 nonsense - substitution screen APC gene (index patient) g.112102976C>G g.112767279C>G - - APC_000368 - Aretz and Friedl (unpublished) - - Germline ? - - - - Stefan Aretz
-?/. 1 - - c.313A>G likely benign r.(?) p.(Ser105Gly) - - - - - g.112102978A>G - APC:NM_000038.5:c.0313A>G (Ser105Gly) - APC_001720 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 6 3 c.331del pathogenic r.(?) p.(Ser111Valfs*14) 111 frameshift - deletion, small screen APC gene (index patient) g.112102996del g.112767299del 331delA - APC_000622 - Carli Tops (unpublished) - - Germline ? - - - - Carli Tops
+/+ 1 6 3 c.341del pathogenic r.(?) p.(Pro114Leufs*11) 114 frameshift - deletion, small screen APC gene (index patient) g.112103006del g.112767309del 340delC - APC_000742 - PubMed: Fostira et al. 2010 - - De novo ? - - - - Stefan Aretz
?/. 1 6 - c.343A>G VUS r.(?) p.(Met115Val) - - - - - g.112103008A>G g.112767311A>G - - APC_001575 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
+/+ 1 6 3 c.344dup pathogenic r.(?) p.(Met115Ilefs*24) 115 frameshift - duplication, small screen APC gene (index patient) g.112103009dup g.112767312dup 344dupT - APC_001518 - PubMed: Lagarde et al. 2010 - - Unknown ? - - - - Stefan Aretz
+/. 1 - - c.347del pathogenic r.(?) p.(Gly116Valfs*9) - - - - - g.112103012del - APC:c.347delG (G116Vfs*9) - APC_001757 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/+ 2 6 3 c.361A>T pathogenic r.(?) p.(Arg121*) 121 nonsense - substitution screen APC gene (index patient) g.112103026A>T g.112767329A>T 361A>T - APC_001037 - PubMed: Armstrong et al. 1997, PubMed: Lagarde et al. 2010 - - Unknown ? - - - - Stefan Aretz
+/+ 3 6 3 c.366del pathogenic r.(?) p.(Phe123Leufs*2), p.(Phe123Leufs*3) 122, 123 frameshift - deletion, small screen APC gene (index patient), test known APC variant (relative) g.112103031del g.112767334del 366delG - APC_000160 - PubMed: Friedl and Aretz 2005, PubMed: Lagarde et al. 2010, Aretz and Spier unpublished - - Unknown ? - - - - Stefan Aretz
+/+ 1 6 3 c.376G>T pathogenic r.(?) p.(Gly126*) 126 nonsense - substitution screen APC gene (index patient) g.112103041G>T g.112767344G>T G126X - APC_000743 - PubMed: Sieber et al. 2006 - - Unknown ? - - - - Stefan Aretz
?/? 1 6 3 c.379A>G VUS r.(?) p.(Ser127Gly) 127 missense - substitution screen APC gene (index patient) g.112103044A>G g.112767347A>G - - APC_001038 - PubMed: Vandrovcová et al. 2004 - - Unknown ? - - - - Stefan Aretz
+/+ 5 6 3 c.386_387insT pathogenic r.(?) p.(Glu129Aspfs*10 het) 129 frameshift - insertion, small screen APC gene (index patient), test known APC variant (relative) g.112103051_112103052insT g.112767354_112767355insT - - APC_000318 - PubMed: Friedl and Aretz 2005 - - Germline ? - - - - Stefan Aretz
?/. 2 6 - c.388A>G VUS r.(?) p.(Ser130Gly) - - - substitution - g.112103053A>G g.112767356A>G - - APC_001268 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke, Andreas Laner
+/+ 1 6 3 c.399T>G pathogenic r.(?) p.(Tyr133*) 133 nonsense - substitution screen APC gene (index patient) g.112103064T>G g.112767367T>G 399T>G - APC_001519 - PubMed: Lagarde et al. 2010 - - Unknown ? - - - - Stefan Aretz
+/+ 1 6 3 c.401T>A pathogenic r.(?) p.(Leu134*) 134 nonsense - substitution screen APC gene (index patient) g.112103066T>A g.112767369T>A - - APC_000650 - PubMed: Nielsen et al. 2007b - - Germline ? - - - - Carli Tops
+/. 1 - - c.401T>G pathogenic r.(?) p.(Leu134*) - - - - - g.112103066T>G - APC:c.401T>G (L134*) - APC_001645 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 6 3 c.408del pathogenic r.(?) p.(Glu136Aspfs*34) 136 frameshift - deletion, small screen APC gene (index patient) g.112103073del g.112767376del 408delA - APC_001520 - PubMed: Lagarde et al. 2010 - - Unknown ? - - - - Stefan Aretz
+/+ 2 6 3 c.416_419del pathogenic r.(?) p.(Lys139Argfs*30), p.(Lys139Glufs*7) 139 frameshift - deletion, small screen APC gene (index patient) g.112103081_112103084del g.112767384_112767387del 416_419delAAGA - APC_000168 - PubMed: Kanter-Smoler et al. 2008, PubMed: Friedl and Aretz 2005 - - Germline, Unknown ? - - - - Stefan Aretz
+/+ 5 6 3 c.419_422del pathogenic r.(?) p.(Glu140Glyfs*28) 140 frameshift - deletion, small screen APC gene (index patient), test known APC variant (relative) g.112103084_112103087del g.112767387_112767390del 419_422delAGAG, 419del4, -AGAG - APC_000393 - PubMed: Rivera et al. 2010, PubMed: Gismondi et al. 1997, PubMed: Lagarde et al. 2010, 1 more item - - De novo, Unknown, Germline ? - - - - Stefan Aretz
+/? 1 6i 3i c.422+1G>A pathogenic r.spl p.? - splicing affected - substitution screen APC gene (index patient) g.112103088G>A g.112767391G>A - - APC_000422 - - - - Unknown ? - - - - Elke Holinski-Feder
+/+ 1 6i 3i c.422+2T>A pathogenic r.spl p.? - splicing affected - substitution screen APC gene (index patient) g.112103089T>A g.112767392T>A 422+2T>A - APC_001521 - PubMed: Lagarde et al. 2010 - - Unknown ? - - - - Stefan Aretz
+/. 3 6i - c.422+2T>C pathogenic r.spl?, r.(?) p.? - - - substitution - g.112103089T>C g.112767392T>C - - APC_001269 cDNA: Skipping Exon6, 2 more items - - rs879254169 Germline - - - - - Andreas Laner
?/? 2 6i 3i c.422+14_422+15ins(468) VUS r.(?) p.? 141 - - insertion, large screen APC gene (index patient), test known APC variant (relative) g.112103100_112103101ins(468) - 422+14ins468 - APC_000272 1 more item Aretz and Friedl (unpublished) - - Germline, Unknown ? - - - - Stefan Aretz
-/. 1 - - c.423-189dup benign r.(=) p.(=) - - - - - g.112111137dup - APC:c.423-188_423-187insT - APC_001758 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - - c.423-18_423-17insA benign r.(=) p.(=) - - - - - g.112111308_112111309insA - APC:c.423-17_423-16insA - APC_001759 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_AMC
-/. 1 - - c.423-17del benign r.(=) p.(=) - - - - - g.112111309del - APC:NM_000038.5:c.423-17del (?) - APC_001721 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/-, -?/. 2 6i 3i c.423-17dup benign, likely benign r.(?), r.(=) p.?, p.(=) - - - insertion, small screen APC gene (index patient) g.112111309dup g.112775612_112775613insT 423-16insT, APC:c.423-16delAinsTA - APC_001041 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Han et al. 2010 - rs35031194 Unknown, CLASSIFICATION record ? - - - - Stefan Aretz, VKGL-NL_Groningen
-?/., -/. 2 - - c.423-17T>A likely benign, benign r.(=) p.(=) - - - - - g.112111309T>A - APC:c.423-17T>A - APC_001646 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
-/., -?/. 2 - - c.423-16del benign, likely benign r.spl? p.? - - - - - g.112111310del - APC:c.423-16delA - APC_001761 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_VUmc
+/+ 13 6i 3i c.423-11A>G pathogenic r.422_423ins423-10_423-1, r.spl? p.Ser142Lysfs*3, p.? 141 splicing affected - deletion, small, substitution screen APC gene (index patient), test known APC variant (relative) g.112111315A>G g.112775618A>G r.422_423insAAAAAAATAG - APC_000384 UV (splice?) Vogt and Aretz (unpublished), Aretz and Friedl (unpublished), Aretz and Spier unpublished - - Germline, Unknown ? - - - - Stefan Aretz
?/? 1 6i 3i c.423-7A>G VUS r.spl? p.? - - - substitution screen APC gene (index patient) g.112111319A>G g.112775622A>G - - APC_001040 UV PubMed: Han et al. 2010 - - Unknown ? - - - - Stefan Aretz
+/? 1 6i 3i c.423-6_424delinsGAAGCAAGATCAG pathogenic r.spl? p.? - splicing affected - indel screen APC gene (index patient) g.112111320_112111327delinsGAAGCAAGATCAG g.112775623_112775630delinsGAAGCAAGATCAG 423-6delAAATAGGTinsGAAGCAAGATCAG - APC_000602 - PubMed: Kanter-Smoler et al. 2008 - - Germline ? - - - - Stefan Aretz
+/+ 6 6i 3i c.423-5A>G pathogenic r.spl? p.? 141 splicing affected - substitution screen APC gene (index patient), test known APC variant (relative) g.112111321A>G g.112775624A>G - - APC_000147 - PubMed: Aretz et al. 2004 - - Unknown, Germline ? - - - - Stefan Aretz
?/?, -?/. 11 6i, 5i 3i c.423-4del VUS, likely benign r.spl?, r.(?) p.?, p.(=) - splicing affected - deletion, small screen APC gene (index patient) g.112111322del g.112775625del codon 142, aatag/GTC --> atag/GTC, 423-4delA, APC:c.423-4delA - APC_000744 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Miyoshi et al. 1992, contributed by Dept. of Dr Vaccaro - - Unknown, Germline, CLASSIFICATION record ? - - - - Stefan Aretz, Angela Solano & F Cardoso, VKGL-NL_Groningen
-/. 2 - - c.423-4dup benign r.spl? p.? - - - - - g.112111322dup - APC:c.423-4_423-3insA, APC:c.423-5_423-4insA - APC_001647 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam
+/?, +?/+? 2 6i 3i c.423-3T>A pathogenic, likely pathogenic r.spl? p.? 141 splicing affected - substitution screen APC gene (index patient) g.112111323T>A g.112775626T>A - - APC_000213 - Aretz and Spier unpublished, PubMed: Friedl and Aretz 2005 - - Unknown ? - - - - Stefan Aretz
?/? 2 6i 3i c.423-2A>G VUS r.spl p.? - splicing affected - substitution screen APC gene (index patient) g.112111324A>G g.112775627A>G - - APC_001039 - PubMed: Rivera et al. 2010 - - Germline ? - - - - Stefan Aretz
+/+ 1 6i 3i c.423-2A>T pathogenic r.spl p.? 141 splicing affected - substitution screen APC gene (index patient) g.112111324A>T g.112775627A>T - - APC_000311 - PubMed: Aretz et al. 2004 - - Unknown ? - - - - Stefan Aretz
+/+, ?/+ 52 6i 3i c.423-1G>A pathogenic r.spl p.? 141 splicing affected - substitution screen APC gene (index patient), test known APC variant (relative) g.112111325G>A g.112775628G>A intron 3, -1 position, agGT --> aaGT, 423-1G>A, nt-1 of exon 4, AG --> AA - APC_000330 - Aretz and Spier unpublished, PubMed: Friedl and Aretz 2005, PubMed: Spirio et al. 1999, 2 more items - - Unknown, Germline ? - - - - Stefan Aretz
?/+, +/+ 3 6i 3i c.423-1G>C pathogenic r.spl p.? 141 splicing affected - substitution screen APC gene (index patient) g.112111325G>C g.112775628G>C - - APC_000102 - PubMed: Hutter et al. 2001, PubMed: Aretz et al. 2004 - - Germline ? - - - - Stefan Aretz
+/+ 2 6i 3i c.423-1G>T pathogenic r.spl, r.spl? p.?, p.(=) 141 splicing affected - substitution screen APC gene (index patient) g.112111325G>T g.112775628G>T - - APC_000268 - PubMed: Aretz et al. 2004 - - Unknown, Germline ? - - - - Stefan Aretz, Andreas Laner
+/+ 5 7 4 c.423G>T pathogenic r.423_531del, r.spl p.?, p.Arg141Serfs*8 141 splicing affected - substitution screen APC gene (index patient), test known APC variant (relative) g.112111326G>T g.112775629G>T 423G>T - APC_000269 - PubMed: Aretz et al. 2004, PubMed: Lagarde et al. 2010 - - Germline, Unknown ? - - - - Stefan Aretz
+/+ 1 6i_7i 4 c.(422+1_423-1)_(531+1_532-1)dup pathogenic r.? p.(Phe178Valfs*6) 178 frameshift - duplication, large screen APC gene (index patient) g.(112103088_112111325)_(112111435_112116486)dup - 423-?_531+?dup - APC_000750 - Aretz (unpublished) - - Unknown ? - - - - Stefan Aretz
+/+ 1 6i_8i 3i_5i c.(422+1_423-1)_(645+1_646-1)del pathogenic r.? p.? del deletion, large - deletion, large screen APC gene (index patient) g.(112103088_112111325)_(112116601_112128142)del - g.73109-?_78383+?del - APC_000620 - PubMed: Nielsen et al. 2007a - - De novo ? - - - - Carli Tops
+/+ 14 7 4 c.426_427del pathogenic r.(?) p.(Leu143Alafs*4) 143, 142 frameshift - deletion, small screen APC gene (index patient) g.112111329_112111330del g.112775632_112775633del 426_427delAT + 5465A>T - APC_000264 - PubMed: Friedl and Aretz 2005, PubMed: Neklason 2008 - - Unknown, Germline ? - - - - Stefan Aretz
+/+ 1 7 4 c.439del pathogenic r.(?) p.(Asp147Ilefs*23) 147 frameshift - deletion, small screen APC gene (index patient) g.112111342del g.112775645del 439delG - APC_000594 - PubMed: Kanter-Smoler et al. 2008 - - De novo ? - - - - Stefan Aretz
+/+ 1 7 4 c.446A>T pathogenic r.(?) p.(Asp149Val) 149 missense - substitution screen APC gene (index patient) g.112111349A>T g.112775652A>T - - APC_001042 - PubMed: Tao et al. 2010 - - Unknown - - - - - Stefan Aretz
+/+ 4 7 4 c.449_450del pathogenic r.(?) p.(Lys150Argfs*17) 150 frameshift - deletion, small screen APC gene (index patient) g.112111352_112111353del g.112775655_112775656del 449_450delAA - APC_000651 - PubMed: van der Luijt et al. 1997, Carli Tops (unpublished) - - Germline ? - - - - Carli Tops
-?/. 2 - - c.450A>G likely benign r.(=) p.(=) - - - - - g.112111353A>G - APC:c.450A>G (=) - APC_001649 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc
+/+ 6 7 4 c.450_453del pathogenic r.(?) p.(Glu151Lysfs*18) 151, 150 frameshift - deletion, small test known APC variant (relative), screen APC gene (index patient) g.112111353_112111356del g.112775656_112775659del 450_453delAGAA - APC_000190 - Aretz and Spier unpublished, PubMed: Friedl and Aretz 2005, PubMed: Friedl et al. 2001 - - Unknown, Germline ? - - - - Stefan Aretz, Elke Holinski-Feder
+/+ 1 7 4 c.450_453dup pathogenic r.(?) p.(Glu152Argfs*17) 152 frameshift - insertion, small screen APC gene (index patient) g.112111353_112111356dup g.112775656_112775659dup 454_457insAGAA - APC_001044 - PubMed: Tao et al. 2010 - - Germline ? - - - - Stefan Aretz
+/+ 3 7 4 c.453del pathogenic r.(?) p.(Glu152Lysfs*18) 151 frameshift - deletion, small screen APC gene (index patient), test known APC variant (relative) g.112111356del g.112775659del 453delA - APC_000106 - PubMed: Friedl and Aretz 2005 - - Germline ? - - - - Stefan Aretz
+/+ 11 7 4 c.455_459del pathogenic r.(?) p.(Glu152Glyfs*14) 152 frameshift - deletion, small screen APC gene (index patient), test known APC variant (relative) g.112111358_112111362del g.112775661_112775665del 455_459delAAAAG - APC_000231 - PubMed: Friedl and Aretz 2005 - - Germline, Unknown ? - - - - Stefan Aretz
+/+ 2 7 4 c.457_458del pathogenic r.(?) p.(Lys153Glyfs*14) 153 frameshift - deletion, small screen APC gene (index patient) g.112111360_112111361del g.112775663_112775664del 457_458delAA - APC_000191 - PubMed: Friedl and Aretz 2005, PubMed: Friedl et al. 2001 - - Germline, Unknown ? - - - - Stefan Aretz
+/+ 1 7 4 c.469del pathogenic r.(?) p.(Trp157Glyfs*13) 157 frameshift - deletion, small screen APC gene (index patient) g.112111372del g.112775675del 469delT - APC_000745 - PubMed: Miyaki et al. 1994; PubMed: Enomoto et al. 2000 - - Unknown ? - - - - Stefan Aretz
+/+ 8 7 4 c.469dup pathogenic r.(?) p.(Trp157Leufs*11) 157 frameshift - duplication, small screen APC gene (index patient), test known APC variant (relative) g.112111372dup g.112775675dup 487insT - APC_000746 - PubMed: Walon et al. 1997 - - Germline ? - - - - Stefan Aretz
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