Full data view for gene EPCAM


NOTE: alias for geneID is TACSTD1
Information The variants shown are described using the NM_002354.2 transcript reference sequence.

538 entries on 6 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
+/. _7_9_ c.? r.? p.? Unknown - pathogenic (dominant) g.? g.? - - EPCAM_000000 - PubMed: Huth 2012 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 22388758-Pat1/2 PubMed: Huth 2012 - - - - - - 0 - - 1 Mamata Sivagnanam
+/. _7_9_ c.? r.? p.? Unknown - pathogenic (dominant) g.? g.? - - EPCAM_000000 - PubMed: Huth 2012 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 22388758-Pat3 PubMed: Huth 2012 - - - - - - 0 - - 1 Mamata Sivagnanam
+/. _7_9_ c.? r.? p.? Unknown - pathogenic (dominant) g.? g.? - - EPCAM_000000 - PubMed: Huth 2012 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 22388758-Pat5 PubMed: Huth 2012 - - - - - - 0 - - 1 Mamata Sivagnanam
+/. 7i_9_ c.? r.? p.? Unknown - pathogenic (dominant) g.? g.? - - EPCAM_000000 - PubMed: Rumilla 2011 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 21227399-? PubMed: Rumilla 2011 6 patients - - - - - 0 - - 1 Mamata Sivagnanam
+/. - unspecified deletion r.? p.? Unknown - pathogenic (dominant) g.? g.? - - EPCAM_000000 - PubMed: Nagasaka 2010 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 20388775-C15 PubMed: Nagasaka 2010 - - - - - - 0 - - 1 Mamata Sivagnanam
+/. - unspecified deletion r.? p.? Unknown - pathogenic (dominant) g.? g.? - - EPCAM_000000 - PubMed: Nagasaka 2010 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 20388775-C17 PubMed: Nagasaka 2010 - - - - - - 0 - - 1 Mamata Sivagnanam
+/. - unspecified deletion r.? p.? Unknown - pathogenic (dominant) g.? g.? - - EPCAM_000000 - PubMed: Nagasaka 2010 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 20388775-C31 PubMed: Nagasaka 2010 - - - - - - 0 - - 1 Mamata Sivagnanam
+/. _1_4i c.(?_-1)_(491+1_492-1)del r.0 p.0 Both (homozygous) - pathogenic g.(?_47596644)_(47602439_47604152)del - del Ex1-4 - EPCAM_000031 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 31 Salomon 2014 - M - Turkey - - 0 - - 1 Mamata Sivagnanam
+/. _1_4i c.(?_-1)_(491+1_492-1)del r.0 p.0 Both (homozygous) - pathogenic g.(?_47596644)_(47602439_47604152)del - Exon1-4F - EPCAM_000031 - Sivagnanam, submitted - - Germline - - - 0 - DNA SEQ - - DIAR 12 Sivagnanam, submitted - F - - Hispanic - 0 - - 1 Mamata Sivagnanam
+/. _1_7i c.(?_-1)_(858+1_859-1)del r.0 p.0 Both (homozygous) - pathogenic g.(?_47596644)_(47607109_47612304)del - del Ex1-7 - EPCAM_000032 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 32 Salomon 2014 - M - Turkey - - 0 - - 1 Mamata Sivagnanam
+/. _1_9_ c.(?_-1)_(*1_?)del r.0 p.0 Both (homozygous) - pathogenic g.(?_47596644)_(47613753_?)del - del EpCAM - EPCAM_000033 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 33 Salomon 2014 - F - Algeria - - 0 - - 1 Mamata Sivagnanam
+/. _1_9_ c.(?_-1)_(*1_?)del r.0 p.0 Both (homozygous) - pathogenic g.(?_47596644)_(47613753_?)del - del EpCAM - EPCAM_000033 - AlMahamed 2017 - - Germline - - - 0 - DNA SEQ - - DIAR 3 AlMahamed 2017 - M no Saudi Arabia - - 0 - - 1 Mamata Sivagnanam
+/. _1_9_ c.(?_-1)_(*1_?)del r.0 p.0 Unknown - pathogenic (dominant) g.(?_47596644)_(47643569_47656880)del g.? - - EPCAM_000005 - PubMed: Rossi 2017 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 28874130-Fam PubMed: Rossi 2017 family - - Chile - - 0 - - 1 Mamata Sivagnanam
+/. _1_9_ c.(_-1)_(*415_?)del r.? p.? Unknown - pathogenic (dominant) g.(?_47596644)_(47639700_47641407)del g.(?_47369505)_(47412561_47414268)del - - EPCAM_000064 56290 bp deletion PubMed: Villacis 2017 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 28093616-Pat8 PubMed: Villacis 2017 - - - Brazil - - 0 - - 1 Mamata Sivagnanam
+/. 7i_9_ c.? r.? p.? Unknown - pathogenic (dominant) g.? g.? - - EPCAM_000000 deletion includes exon 8, 9 and 3kb PubMed: Rumilla 2011 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 21227399-? PubMed: Rumilla 2011 5 patients - - - - - 0 - - 1 Mamata Sivagnanam
+/. 1 c.1A>C r.(?) p.0? Parent #1 - pathogenic g.47596645A>C g.47369506A>C M1L - EPCAM_000060 - Sivagnanam, submitted - - Germline - - - 0 - DNA SEQ - - DIAR 2 Sivagnanam, submitted - F - Palestine - - 0 - - 1 Mamata Sivagnanam
+/. - c.13C>T r.(?) p.(Gln5Ter) Unknown - pathogenic g.47596657C>T g.47369518C>T EPCAM(NM_002354.2):c.13C>T (p.Q5*) - EPCAM_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.38_62dup r.(?) p.(Ala22Cysfs*17) Parent #2 - pathogenic g.47596682_47596706dup g.47369543_47369567dup 38_62dup25 - EPCAM_000051 - Sivagnanam, submitted - - Germline - - - 0 - DNA SEQ - - DIAR 2 Sivagnanam, submitted - F - Palestine - - 0 - - 1 Mamata Sivagnanam
+/. 1 c.48_68del r.(?) p.(Thr17_Ala23del) Parent #2 - pathogenic g.47596692_47596712del g.47369553_47369573del 47_67del21 - EPCAM_000050 - Sivagnanam, submitted - - Germline - - - 0 - DNA SEQ - - DIAR 1 Sivagnanam, submitted - M - - white - 0 - - 1 Mamata Sivagnanam
-?/. - c.77-11del r.(=) p.(=) Unknown - likely benign g.47600591del g.47373452del EPCAM(NM_002354.2):c.77-11delT - EPCAM_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.77-11T>A r.(=) p.(=) Unknown - benign g.47600591T>A g.47373452T>A EPCAM(NM_002354.2):c.77-11T>A - EPCAM_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.77-1G>C r.spl? p.? Parent #1 - NA g.47600601G>C - chr2_47600601_G_C - EPCAM_000103 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
+/. 1i_5i c.(76+1_77-1)_(555+1_556-1)del r.? p.? Parent #1 - pathogenic g.(47596721_47600601)_(47604217_47606091)del - del Ex2-5 - EPCAM_000034 - Tang 2016 - - Germline - - - 0 - DNA SEQ - - DIAR 1 Tang 2016 - F no China - - 0 - - 1 Mamata Sivagnanam
?/. - c.79T>C r.(?) p.(Cys27Arg) Parent #1 - NA g.47600604T>C - chr2_47600604_T_C - EPCAM_000104 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.80G>A r.(?) p.(Cys27Tyr) Parent #1 - NA g.47600605G>A - chr2_47600605_G_A - EPCAM_000105 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.82G>A r.(?) p.(Val28Ile) Parent #1 - NA g.47600607G>A - chr2_47600607_G_A - EPCAM_000106 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.83T>C r.(?) p.(Val28Ala) Parent #1 - NA g.47600608T>C - chr2_47600608_T_C - EPCAM_000107 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.88G>A r.(?) p.(Glu30Lys) Parent #1 - NA g.47600613G>A - chr2_47600613_G_A - EPCAM_000108 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.88_89delinsT r.(?) p.(Glu30*) Parent #1 - NA g.47600613_47600614delinsT - chr2_47600613_GA_T - EPCAM_000109 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.89A>G r.(?) p.(Glu30Gly) Parent #1 - NA g.47600614A>G - chr2_47600614_A_G - EPCAM_000110 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.93C>G r.(?) p.(Asn31Lys) Parent #1 - NA g.47600618C>G - chr2_47600618_C_G - EPCAM_000111 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 28/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 28 BRIDGES consortium
?/. - c.93C>G r.(?) p.(Asn31Lys) Parent #1 - NA g.47600618C>G - chr2_47600618_C_G - EPCAM_000111 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 35/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 35 BRIDGES consortium
?/. - c.94T>C r.(?) p.(Tyr32His) Parent #1 - NA g.47600619T>C - chr2_47600619_T_C - EPCAM_000112 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
+?/. - c.96C>A r.(?) p.(Tyr32*) Parent #2 - likely pathogenic g.47600621C>A - - - EPCAM_000094 - - - - Germline - - - - - DNA SEQ-NG - - DIAR-5 43 - - M - China - - - - - 1 Sha Hong
?/. - c.97A>C r.(?) p.(Lys33Gln) Parent #1 - NA g.47600622A>C - chr2_47600622_A_C - EPCAM_000113 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.101T>C r.(?) p.(Leu34Pro) Parent #1 - NA g.47600626T>C - chr2_47600626_T_C - EPCAM_000114 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.106G>A r.(?) p.(Val36Ile) Parent #1 - NA g.47600631G>A - chr2_47600631_G_A - EPCAM_000115 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 11/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 11 BRIDGES consortium
?/. - c.106G>A r.(?) p.(Val36Ile) Parent #1 - NA g.47600631G>A - chr2_47600631_G_A - EPCAM_000115 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 8/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 8 BRIDGES consortium
?/. - c.110A>T r.(?) p.(Asn37Ile) Parent #1 - NA g.47600635A>T - chr2_47600635_A_T - EPCAM_000116 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.111C>G r.(?) p.(Asn37Lys) Parent #1 - NA g.47600636C>G - chr2_47600636_C_G - EPCAM_000117 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 7/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 7 BRIDGES consortium
?/. - c.111C>G r.(?) p.(Asn37Lys) Parent #1 - NA g.47600636C>G - chr2_47600636_C_G - EPCAM_000117 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 5/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 5 BRIDGES consortium
+/. 2 c.113G>A r.(?) p.(Cys38Tyr) Parent #1 - pathogenic g.47600638G>A g.47373499G>A - - EPCAM_000059 - Sivagnanam, submitted - - Germline - - - 0 - DNA SEQ - - DIAR 1 Sivagnanam, submitted - M - - white - 0 - - 1 Mamata Sivagnanam
?/. - c.131G>A r.(?) p.(Arg44His) Parent #1 - NA g.47600656G>A - chr2_47600656_G_A - EPCAM_000119 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.131G>T r.(?) p.(Arg44Leu) Parent #1 - NA g.47600656G>T - chr2_47600656_G_T - EPCAM_000118 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.133C>T r.(?) p.(Gln45*) Parent #1 - NA g.47600658C>T - chr2_47600658_C_T - EPCAM_000120 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.134A>T r.(?) p.(Gln45Leu) Parent #1 - NA g.47600659A>T - chr2_47600659_A_T - EPCAM_000121 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 3 BRIDGES consortium
?/. - c.134A>T r.(?) p.(Gln45Leu) Parent #1 - NA g.47600659A>T - chr2_47600659_A_T - EPCAM_000121 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 4/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 4 BRIDGES consortium
+/. 2 c.139C>T r.(?) p.0? Parent #1 - pathogenic g.47600664C>T g.47373525C>T - - EPCAM_000040 unknown variant 2nd allele Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 1 Salomon 2014 - F - Italy - - 0 - - 1 Mamata Sivagnanam
?/. - c.139del r.(?) p.(Gln47Serfs*22) Parent #1 - NA g.47600664del - chr2_47600662_GC_G - EPCAM_000122 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.140A>G r.(?) p.(Gln47Arg) Parent #1 - NA g.47600665A>G - chr2_47600665_A_G - EPCAM_000123 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.141G>C r.(?) p.(Gln47His) Parent #1 - NA g.47600666G>C - chr2_47600666_G_C - EPCAM_000124 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.146C>G r.(?) p.(Thr49Ser) Parent #1 - NA g.47600671C>G - chr2_47600671_C_G - EPCAM_000125 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.148T>A r.(?) p.(Ser50Thr) Parent #1 - NA g.47600673T>A - chr2_47600673_T_A - EPCAM_000126 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.148T>A r.(?) p.(Ser50Thr) Parent #1 - NA g.47600673T>A - chr2_47600673_T_A - EPCAM_000126 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.149C>T r.(?) p.(Ser50Leu) Parent #1 - NA g.47600674C>T - chr2_47600674_C_T - EPCAM_000127 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.151G>A r.(?) p.(Val51Ile) Parent #1 - NA g.47600676G>A - chr2_47600676_G_A - EPCAM_000128 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.161A>G r.(?) p.(Gln54Arg) Parent #1 - NA g.47600686A>G - chr2_47600686_A_G - EPCAM_000129 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 22/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 22 BRIDGES consortium
?/. - c.161A>G r.(?) p.(Gln54Arg) Parent #1 - NA g.47600686A>G - chr2_47600686_A_G - EPCAM_000129 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 8/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 8 BRIDGES consortium
-?/. - c.171C>A r.(?) p.(Val57=) Unknown - likely benign g.47600696C>A g.47373557C>A EPCAM(NM_002354.2):c.171C>A (p.V57=) - EPCAM_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.172A>T r.(?) p.(Ile58Phe) Parent #1 - NA g.47600697A>T - chr2_47600697_A_T - EPCAM_000130 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.179C>T r.(?) p.(Ser60Leu) Parent #1 - NA g.47600704C>T - chr2_47600704_C_T - EPCAM_000131 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 12/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 12 BRIDGES consortium
?/. - c.179C>T r.(?) p.(Ser60Leu) Parent #1 - NA g.47600704C>T - chr2_47600704_C_T - EPCAM_000131 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 13/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 13 BRIDGES consortium
?/. - c.181A>G r.(?) p.(Lys61Glu) Parent #1 - NA g.47600706A>G - chr2_47600706_A_G - EPCAM_000132 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.184+1G>T r.spl? p.? Parent #1 - NA g.47600710G>T - chr2_47600710_G_T - EPCAM_000133 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.184+1G>T r.spl? p.? Parent #1 - NA g.47600710G>T - chr2_47600710_G_T - EPCAM_000133 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 4/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 4 BRIDGES consortium
+/. _3_9_ c.(?_185-1)_(*415_?)del r.? p.? Unknown - pathogenic (dominant) g.(?_47600946)_(47614167_?)del g.? - - EPCAM_000000 deletion includes at least exons 3, 8, 9 PubMed: Huth 2012 - - Germline - - - 0 - DNA SEQ - - HNPCC-8 22388758-Pat4 PubMed: Huth 2012 - - - - - - 0 - - 1 Mamata Sivagnanam
+/. 2i_9_ c.(184+1_185-1)_(*415_?)del r.? p.? Unknown - pathogenic g.(47600710_47600946)_(47710089_?)del - deletion EPCAM exon 3 to MSH2 exon 16 (*272_?) - EPCAM_000006 - Desiree du Sart - - Germline - - - 0 - DNA MLPA - - ? - {microatt:1003310, Desiree du Sart} - - - - - - 0 - - 1 INSiGHT group
+/. 2i_9_ c.(184+1_185-1)_(*415_?)del r.? p.? Unknown - pathogenic g.(47600710_47600946)_(47710089_?)del - c.185-?_*272+?del [5'UTR_EX16del/EPCAM EX3_3'UTRdel] - EPCAM_000006 - - - - De novo - - - 0 - DNA SEQ - screen date 2014-01-01 cancer, rectal - - - M - - - - 0 - - 1 Ian Frayling
?/. 2i_9_ c.(184+1_185-1)_(*415_?)del r.? p.? Unknown - VUS g.(47600710_47600946)_(47710089_?)del - c.185-?_945+?del - EPCAM_000006 - PubMed: Lagerstedt-RobinsonĀ et al. 2016 - - Germline - - - 0 - DNA SEQ - - HNPCC 27601186-Pat PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
?/. - c.187G>C r.(?) p.(Ala63Pro) Parent #1 - NA g.47600949G>C - chr2_47600949_G_C - EPCAM_000134 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 4/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 4 BRIDGES consortium
?/. - c.187G>C r.(?) p.(Ala63Pro) Parent #1 - NA g.47600949G>C - chr2_47600949_G_C - EPCAM_000134 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.188C>G r.(?) p.(Ala63Gly) Parent #1 - NA g.47600950C>G - chr2_47600950_C_G - EPCAM_000135 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.194A>G r.(?) p.(Lys65Arg) Parent #1 - NA g.47600956A>G - chr2_47600956_A_G - EPCAM_000136 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
+/. 3 c.197G>A r.(?) p.(Cys66Tyr) Parent #1 - pathogenic g.47600959G>A g.47373820G>A - - EPCAM_000056 - Sivagnanam 2008; Schnell 2013 - - Germline - - - 0 - DNA SEQ - - DIAR - Sivagnanam 2008; Schnell 2013 - M no Russia - - 0 - - 1 Mamata Sivagnanam
?/. - c.205A>G r.(?) p.(Met69Val) Parent #1 - NA g.47600967A>G - chr2_47600967_A_G - EPCAM_000137 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.205A>G r.(?) p.(Met69Val) Parent #1 - NA g.47600967A>G - chr2_47600967_A_G - EPCAM_000137 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.212C>T r.(?) p.(Ala71Val) Parent #1 - NA g.47600974C>T - chr2_47600974_C_T - EPCAM_000138 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.224G>A r.(?) p.(Gly75Asp) Parent #1 - NA g.47600986G>A - chr2_47600986_G_A - EPCAM_000139 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 7/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 7 BRIDGES consortium
?/. - c.224G>A r.(?) p.(Gly75Asp) Parent #1 - NA g.47600986G>A - chr2_47600986_G_A - EPCAM_000139 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 7/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 7 BRIDGES consortium
+/. 3 c.227C>G r.(?) p.(Ser76*) Both (homozygous) - pathogenic g.47600989C>G g.47373850C>G - - EPCAM_000039 - Theoni 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 1 Theoni 2014 - F yes - East Africa - 0 - - 1 Mamata Sivagnanam
+/. 3 c.227C>G r.(?) p.(Ser76*) Both (homozygous) - pathogenic g.47600989C>G g.47373850C>G - - EPCAM_000039 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 2 Salomon 2014 - F - Turkey - - 0 - - 1 Mamata Sivagnanam
+/. 3 c.227C>G r.(?) p.(Ser76*) Parent #1 - pathogenic g.47600989C>G g.47373850C>G - - EPCAM_000039 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 3 Salomon 2014 - M - Italy - - 0 - - 1 Mamata Sivagnanam
+/. - c.227C>G r.(?) p.(Ser76*) Unknown - pathogenic g.47600989C>G - EPCAM(NM_002354.2):c.227C>G (p.S76*) - EPCAM_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.232C>G r.(?) p.(Leu78Val) Parent #1 - NA g.47600994C>G - chr2_47600994_C_G - EPCAM_000140 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 18/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 18 BRIDGES consortium
?/. - c.232C>G r.(?) p.(Leu78Val) Parent #1 - NA g.47600994C>G - chr2_47600994_C_G - EPCAM_000140 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 20/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 20 BRIDGES consortium
?/. - c.233T>G r.(?) p.(Leu78Arg) Parent #1 - NA g.47600995T>G - chr2_47600995_T_G - EPCAM_000141 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 3 BRIDGES consortium
?/. - c.233T>G r.(?) p.(Leu78Arg) Parent #1 - NA g.47600995T>G - chr2_47600995_T_G - EPCAM_000141 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.235G>A r.(?) p.(Gly79Arg) Parent #1 - NA g.47600997G>A - chr2_47600997_G_A - EPCAM_000142 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.236G>A r.(?) p.(Gly79Glu) Parent #1 - NA g.47600998G>A - chr2_47600998_G_A - EPCAM_000143 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.242G>A r.(?) p.(Arg81Lys) Parent #1 - NA g.47601004G>A - chr2_47601004_G_A - EPCAM_000144 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.245C>T r.(?) p.(Ala82Val) Parent #1 - NA g.47601007C>T - chr2_47601007_C_T - EPCAM_000145 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.250C>G r.(?) p.(Pro84Ala) Parent #1 - NA g.47601012C>G - chr2_47601012_C_G - EPCAM_000146 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.250C>T r.(?) p.(Pro84Ser) Parent #1 - NA g.47601012C>T - chr2_47601012_C_T - EPCAM_000147 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 13/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 13 BRIDGES consortium
?/. - c.250C>T r.(?) p.(Pro84Ser) Parent #1 - NA g.47601012C>T - chr2_47601012_C_T - EPCAM_000147 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 11/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 11 BRIDGES consortium
?/. - c.251C>G r.(?) p.(Pro84Arg) Parent #1 - NA g.47601013C>G - chr2_47601013_C_G - EPCAM_000148 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.251C>T r.(?) p.(Pro84Leu) Parent #1 - NA g.47601013C>T - chr2_47601013_C_T - EPCAM_000149 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.251C>T r.(?) p.(Pro84Leu) Parent #1 - NA g.47601013C>T - chr2_47601013_C_T - EPCAM_000149 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.254A>G r.(?) p.(Glu85Gly) Parent #1 - NA g.47601016A>G - chr2_47601016_A_G - EPCAM_000150 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.255A>T r.(?) p.(Glu85Asp) Parent #1 - NA g.47601017A>T - chr2_47601017_A_T - EPCAM_000151 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 4/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 4 BRIDGES consortium
?/. - c.255A>T r.(?) p.(Glu85Asp) Parent #1 - NA g.47601017A>T - chr2_47601017_A_T - EPCAM_000151 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 4/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 4 BRIDGES consortium
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