Unique variants in the MSH2 gene


MSH2 variants classified by the InSiGHT consortium: criteria used for classification are available here. We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.
Information The variants shown are described using the NM_000251.2 transcript reference sequence.

1932 entries on 20 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/+, +/. 3 1_11i c.-75398_1759+1708del r.spl p.(=), p.? - pathogenic g.47554933_47699909del g.47327794_47472770del Deletion of Exon 1-11; g.26446264-?_26514134+?del, 1 more item - MSH2_001624 Insight class: 5 InSiGHT, PubMed: Hampel 2005, PubMed: Hampel 2006 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
+/+, +/. 3 1_7i c.-47156_1277-4980del r.spl, r.spl? p.(=) - pathogenic g.47583175_47667707del g.47356036_47440568del Deletion of Exon 1-7, g.26399108_26483640del84533 (NT_022184) - MSH2_000856 Insight class: 5 InSiGHT, PubMed: Hampel 2005, PubMed: Nakagawa 2003 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
+/+, +/. 4 1_7i c.-35298_1276+5697del r.spl, r.spl? p.(=) - pathogenic g.47595033_47662777del g.47367894_47435638del Deletion of Exon 1-7 - MSH2_000938 Insight class: 5 InSiGHT, PubMed: Lagerstedt Robinson 2007; PubMed: Di Fiore 2004, PubMed: Nilbert 2002, 1 more item - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
+/. 1 _1_4i c.-33687_-16578del r.0? p.0? - pathogenic (dominant) g.(?_47596644)_(47639700_47641407)del g.(?_47369505)_(47412561_47414268)del - - EPCAM_000064 56290 bp deletion PubMed: Villacis 2017 - - Germline - - - - - Mamata Sivagnanam
+/. 2 _1 c.-25189_-2353del NM_002354.2:r.-358_555::r.212_*279, r.-125_211delinsNM_002354.2:-358_555] p.? - pathogenic g.47605142_47627978del g.47378003_47400839del c.555+894_*14194del - EPCAM_000002 haplotype differs from FamHK-A; fusion transcript EPCAM/MSH2, 1 more item PubMed: Ligtenberg 2009 - - Germline yes - - - - Johan den Dunnen
+/. 1 _1_3i c.-19886_646-254del r.0? p.0? - pathogenic (dominant) g.47610449_47639303del g.47383310_47412164del - - EPCAM_000062 28854 bp deletion +_AluY to +_AluSx PubMed: Perez-Cabornero 2011 - - Germline - - - - - Mamata Sivagnanam
+/. 5 _1 c.-19488_-14580del r.?, r.[NM_002354.2:r.-358_858::212_*279, NM_002354.2:r.-358_858::-4237_-4127ins212_*279] p.? - pathogenic g.47610843_47615751del g.47383704_47388612del c.859-1462_*1999del, MSH2:c.373C>T + EPCAM:c.859-1462_*1999del - EPCAM_000001 3 more items Mensenkamp and Ligtenberg, PubMed: Ligtenberg 2009 - - Germline yes - - - - Johan den Dunnen, INSiGHT group
+/+, +/. 6 1_6i c.-11844_1077-6021delins(155) r.spl, r.spl? p.(=) - pathogenic g.47618487_47650860delins(155) - del ex1_6, 32372 bp, Deletion of Exon 1-6, Deletion of Exon 1-6; g.26440374_26472747del32373+ins155, 1 more item - MSH2_001602 Insight class: 5 InSiGHT, PubMed: Barana 2004, PubMed: Stella 2007, PubMed: van der Klift 2005 - - Germline, SUMMARY record - - - - - Juul Wijnen, InSiGHT - John-Paul Plazzer, Michael Woods
+/+, +/. 3 1_2i c.-4729_367-353del r.? p.? - pathogenic g.47625603_47636881del g.47398464_47409742del Deletion of Exon 1-2, Deletion of Exon 1-2, g.26441535_26452813del11279 (NT_022184) - MSH2_000862 Insight class: 5 InSiGHT, PubMed: Nakagawa 2003, PubMed: Pyatt 2003 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
+/+, +/. 3 1_3i c.-1753_645+922del r.spl p.(=), p.? - pathogenic g.47628578_47638433del g.47401439_47411294del Deletion of Exon 1-3; g.26444511_26454366 (del 9855), Deletion of Exon 1-3; g.2644511_26454366del9855 - MSH2_001625 Insight class: 5 InSiGHT, PubMed: Stella 2007 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
+/+, +/. 2 1_6i c.-956_1077-5607del r.spl, r.spl? p.(=) - pathogenic g.47629375_47651274del g.47402236_47424135del del ex1_6, 21899 bp - MSH2_001603 Insight class: 5 InSiGHT, PubMed: van der Klift 2005; PubMed: Wagner 2003 - - Germline, SUMMARY record - - - - - Juul Wijnen, InSiGHT - John-Paul Plazzer
+/+, +/. 15 1_6i c.-823_1076+5984del r.spl, r.spl? p.(=) - pathogenic g.47629509_47649553del g.47402370_47422414del del ex1_6, 20045 bp, Deletion of Exon 1-6, Deletion of Exon 1-6, g.5330483_5349647del19165 (NT_034483), 2 more items - MSH2_001604 Insight class: 5 InSiGHT, PubMed: Baudhuin 2005, PubMed: Clendenning 2008; PubMed: Hampel 2008, PubMed: Hampel 2006, 5 more items - - Germline, SUMMARY record - - - - - Juul Wijnen, InSiGHT - John-Paul Plazzer, Michael Woods
-/-, ?/. 3 1 c.-433T>G r.(?) p.(=) InSiGHT benign, VUS g.47629898T>G g.47402759T>G - - MSH2_001224 Insight class: 1 InSiGHT, PubMed: Schafmayer 2007 - rs1863332 Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
?/., ?/? 3 1 c.-225G>C r.(?) p.(=) - VUS g.47630106G>C g.47402967G>C - - MSH2_001140 Functional studies indicated that activity increased by 466%, Gene regulation defect, Insight class: 3 InSiGHT, PubMed: Shin 2002, PubMed: Shin 2004 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
?/., ?/? 3 1 c.-190C>T r.(?) p.(=) - VUS g.47630141C>T g.47403002C>T - - MSH2_001054 Authors describe this as a gene regulation defect, Insight class: 3, 1 more item InSiGHT, PubMed: Shin 2002, PubMed: Shin 2004 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
?/. 1 1 c.-185C>A r.(?) p.(=) - VUS g.47630146C>A g.47403007C>A - - MSH2_001590 - - - - Unknown - - - - - Tatiane Pastor
?/. 1 1 c.-140G>T r.(?) p.(=) - VUS g.47630191G>T g.47403052G>T - - MSH2_000112 - - - - Unknown - - - - - InSiGHT - John-Paul Plazzer
+/+, +/. 42 _1_1i c.(?_-125)_(211+1_212-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47630542_47635539)del - (?_-68)_211+?del, 1-?_211+?del, 1-?_211+?del (Del ex01), del at least 15 kb upstream exon 1 and exon 2, 6 more items - MSH2_000040 Authors describe the 26bp Alu core sequence as being located 43bp downstream from the breakpoint., 7 more items InSiGHT, InSiGHT, PubMed: Rossi 2017, José Luis Soto, Mark Jenkins; John Hopper, PubMed: Akrami 2005, 23 more items - - Germline, SUMMARY record - - - - - Juul Wijnen, Carli Tops, InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group, Peter Propping, Prof. Dr. med., Beate Dr. Betz, Mev Dominguez Valentin, ICCon
+/. 1 _1_2i c.-125_367-519del r.-125_366delinsNM_002354.2:-358_555 p.Val3_Lys122delinsNP_002345.2:Pro3_Leu185 - pathogenic (dominant) g.47605653_47636714del g.47378514_47409575del - - EPCAM_000063 31062 bp deletion C_AluSp to C_AluSc5; fusion transcript and protein detected PubMed: Sekine 2017 - - Germline - - - - - Mamata Sivagnanam
+/+, +/. 32 _1_2i c.(?_-125)_(366+1_367-1)del r.0?, r.spl p.0?, p.Met1_Lys122del - pathogenic g.(?_47630206)_(47635695_47637232)del - (?_-68)_366+?del, (?_-68)_366+?del/Del exon 1-2, 1-?_366+?del, 1-?_366+?del (Del ex01-02 (30 Kb)), 8 more items - MSH2_000041 1x female 36 y CC, MSI-H, IHC loss of MSH2 + MSH6, MLH1+PMS2 positive, Bethesda-pos., Unknown, 9 more items InSiGHT, Lopez Villar I.et al, (unpublished), José Luis Soto, Mark Jenkins; John Hopper, 14 more items - - Germline, SUMMARY record - - - - - Juul Wijnen, Carli Tops, Elke Holinski-Feder, InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group, Peter Propping, Prof. Dr. med., Daniel Rueda, Thomas Hansen, ICCon
+/+, +/., ?/. 12 _1_3i c.(?_-125)_(645+1_646-1)del r.0?, r.? p.0?, p.? - pathogenic, VUS g.(?_47630206)_(47637512_47639552)del, g.(?_47630206)_(47637512_47639552)dup - (?_-68)_645+?del, 1-?_645+?del (Del ex01-03), 1?_645+?del, Deletion of Exon 1-3, ex1-3 dup - MSH2_000863 Maternal Inferred, Occurs with an MYH mutation., Insight class: 5, 1 more item InSiGHT, InSiGHT, PubMed: Rossi 2017, José Luis Soto, PubMed: Bujalkova 2008, PubMed: Gille 2002, 4 more items - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group, Mev Dominguez Valentin, José Luis Soto, Flavie Boulouard
+/+, +/. 8 _1_4i c.(?_-125)_(792+1_793-1)del r.0?, r.spl p.0?, p.Met1_Gln264del - pathogenic g.(?_47630206)_(47639700_47641407)del - Deletion of Exon 1-4, Exon 1 to Exon 4 1-?_792+?del p.Met1_Gln264del, 1 more item - MSH2_000864 Insight class: 5 InSiGHT, Desiree du Sart, Alessandra Viel, Alessandra Viel, PubMed: Charbonnier 2002, PubMed: Yan 2008, 2 more items - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group
+/+, +/. 4 _1_5i c.(?_-125)_(942+1_943-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47641558_47643434)del - Deletion of Exon 1-5, ex01_ex05del, genomic del ex1-5 - MSH2_000035 Insight class: 5 InSiGHT, PubMed: Soravia 2001 - - Germline, SUMMARY record - - - - - Juul Wijnen, InSiGHT - John-Paul Plazzer, Michael Woods, Beate Dr. Betz
+/. 81 _1_6i c.(?_-125)_(1076+1_1077-1)del r.0? p.0? - NA, pathogenic g.(?_47630206)_(47643569_47656880)del - (?_-68)_1076+?del, codon 153., del ex01-06, del ex1_6, =15 kb, del ex1_6, =41 kb, del ex1_6, =78 kb, 8 more items - MSH2_000235 Authors describe the 26bp Alu core sequence as being located 16bp upstream from the breakpoint., 10 more items InSiGHT, PubMed: Rossi 2017, Elke Holinski-Feder and Monika Morak, Gabriel Capellá, Desiree du Sart, 46 more items - - Germline, In vitro (cloned) - - - - - Juul Wijnen, Michael Woods, INSiGHT group, Peter Propping, Prof. Dr. med., Beate Dr. Betz, Mev Dominguez Valentin, ICCon
+/., ?/., ?/? 4 _1_6i c.(?_-125)_(1076+1_1077-1)dup r.0? p.0? - pathogenic, VUS g.(?_47630206)_(47643569_47656880)dup - c.(?_-68)_1076+?dup, Exon 1 to Exon 6 1-?_1076+?dup p.Leu360Trpfs*63 (?should be p.Met1?) - MSH2_000004 Insight class: 3 InSiGHT, Desiree du Sart - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, INSiGHT group, Peter Propping, Prof. Dr. med.
+/. 22 _1_6i, _1_7i c.(?_-125)_(1276+1_1277-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47657081_47672686)del - (?_-68)_1267+?del, del ex1_7, =54 kb, Deletion of Exon 1-7, Deletion of Exon 1-7, >25Kb deletion, 2 more items - MSH2_000038 Authors describe the 26bp Alu core sequence as being located 72bp downstream from the breakpoint., 1 more item PubMed: Baudhuin 2005, PubMed: Bujalkova 2008, PubMed: Charbonnier 2002, PubMed: Di Fiore 2004, 14 more items - - Germline yes 1/2134 cases BRCA - - - Johan den Dunnen, Carli Tops, Michael Woods, José Luis Soto, ICCon
+/+, +/. 30 _1_8i c.(?_-125)_(1386+1_1387-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47672797_47690169)del - (?_-68)_1386+?del, (?_-68)_1386+?del/Del exon 1-8, Deletion of Exon 1-8, MSH2:1-?_1386+?del, 2 more items - MSH2_000238 Authors describe the 26bp Alu core sequence as being located 31bp downstream of the breakpoint., 4 more items InSiGHT, Mark Jenkins; John Hopper, Noralane Lindor and Steve Thibodeau, Maurizio Genuardi, 20 more items - - De novo, Germline, SUMMARY record - - - - - Ian Frayling, Elke Holinski-Feder, InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group, Amanda Spurdle, Thomas Hansen, ICCon
+/+, +/. 6 _1_10i c.(?_-125)_(1661+1_1662-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47693948_47698103)del - del ex01-10, Deletion of Exon 1-10 - MSH2_000042 Insight class: 5 InSiGHT, PubMed: Mangold 2005, PubMed: Mangold 2005, PubMed: Wang 2002, PubMed: Wang 2003 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, Peter Propping, Prof. Dr. med.
+/+, +/. 2 _1_11i c.(?_-125)_(1759+1_1760-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47698202_47702163)del - Deletion of Exon 1-11 - MSH2_000859 Insight class: 5 InSiGHT, PubMed: Di Fiore 2004 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
+/. 1 _1_14i c.(?_-125)_(2458+1_2459-1)del r.? p.0? - pathogenic g.(?_47630206)_(47705659_47707834)del - 1_2458del - MSH2_000046 Exon deletion (1-14) 1 more item - - Germline ? - - - - InSiGHT - John-Paul Plazzer
+/+, +/. 4 _1_15i c.(?_-125)_(2634+1_2635-1)del r.0? p.0? - pathogenic g.(?_47630206)_(47708011_47709917)del - Deletion of Exon 1-15 - MSH2_000861 Insight class: 5 InSiGHT, PubMed: Charbonnier 2005, PubMed: Di Fiore 2004, PubMed: Parc 2003 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
+/+, +/. 27 _1_16_ c.(?_-125)_(*279_?)del r.0? p.0? - NA, pathogenic g.(?_47630206)_(47710367_?)del - (?_-68)_(*272_?)del, del 1_16, del ex 1_16, >80kb, del ex01-16, Deletion exons 1-16, 5 more items - MSH2_000043 1x male 29 y CC asc. T3 N1, MSI-H, IHC loss of MSH2 + MSH6, MLH1 positive, Bethesda-pos., 1 more item InSiGHT, Mark Jenkins; John Hopper, Maurizio Genuardi, Maurizio Genuardi, Desiree du Sart, 13 more items - - Germline, In vitro (cloned), SUMMARY record, Unknown - - - - - Juul Wijnen, Carli Tops, Maurizio Genuardi, James Whitworth, InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group, Peter Propping, Prof. Dr. med.
-/-, -/., ?/. 23 1 c.-118T>C r.(?) p.(=) InSiGHT benign, VUS g.47630213T>C g.47403074T>C -118 C>T., -118T>C, 1-118T>C, Authors describe this variant as -118C>T. - MSH2_000892 VKGL data sharing initiative Nederland, Insight class: 1, 2 more items contributed by Dept. of Dr Vaccaro, InSiGHT, Kristina Lagerstedt Robinson, PubMed: Chen 2008, 7 more items - - CLASSIFICATION record, Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group, Thomas Hansen, Angela Solano & F Cardoso, VKGL-NL_Nijmegen, Carlos Vaccaro
?/. 1 1 c.-116G>T r.(?) p.(=) - VUS g.47630215G>T g.47403076G>T -116G>T - MSH2_000027 - - - - Germline - - - - - Thomas Hansen
?/. 1 - c.-109G>A r.(?) p.(=) - VUS g.47630222G>A - - - MSH2_001936 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/., ?/? 3 1 c.-81dup r.(?) p.(=) - VUS g.47630250dup g.47403111dup -80 ins A. - MSH2_001288 Functional studies indicated that activity decreased by 82%., Insight class: 3, 1 more item InSiGHT, PubMed: Shin 2002, PubMed: Shin 2004 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
+/., +?/+? 2 1 c.-78_-77del r.(?) p.(=) - likely pathogenic, pathogenic g.47630253_47630254del g.47403114_47403115del - - MSH2_001272 Insight class: 4, 1 more item InSiGHT, PubMed: Yan 2007 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
?/. 1 1 c.-73G>A r.(?) p.(=) - VUS g.47630258G>A g.47403119G>A -73G>A - MSH2_000250 - - - - Germline - - - - - Thomas Hansen
+/+, +/. 11 - c.(?_-68)_(1076+1_1077-1)del r.(?) p.? - pathogenic g.(?_47630263)_(47643569_47656880)del - (?_-68)_1076+?del Deletion exons 1–6 - MSH2_001644 Insight class: 5 InSiGHT, PubMed: Lagerstedt Robinson 2007, PubMed: Lagerstedt-Robinson 2016, 1 more item - - Germline, SUMMARY record - - - - - Kristina Lagerstedt Robinson, InSiGHT - John-Paul Plazzer
+/+, +/. 3 - c.(?_-68)_(1276+1_1277-1)del r.(?) p.? - pathogenic g.(?_47630263)_(47657081_47672686)del, g.47630263_47657080del - (?_-68)_1276+?del Deletion exons 1–7 - MSH2_001645 1 more item InSiGHT, PubMed: Lagerstedt Robinson 2007, PubMed: Lagerstedt-Robinson 2016, 1 more item - - Germline, SUMMARY record - - - - - Kristina Lagerstedt Robinson, InSiGHT - John-Paul Plazzer
+/+, +/. 8 - c.(?_-68)_(1386+1_1387-1)del r.(?) p.? - pathogenic g.(?_47630263)_(47672797_47690169)del, g.47630263_47672796del - (?_-68)_1386+?del Deletion exons 1–8 - MSH2_001646 1 more item InSiGHT, PubMed: Lagerstedt Robinson 2007, PubMed: Lagerstedt-Robinson 2016, 1 more item - - Germline, SUMMARY record - - - - - Kristina Lagerstedt Robinson, InSiGHT - John-Paul Plazzer
+/+, +/. 2 - c.(?_-68)_(1661+1_1662-1)del r.(?) p.? - pathogenic g.(?_47630263)_(47693948_47698103)del - (?_-68)_1661+?del Deletion exons 1–11 - MSH2_001647 Insight class: 5 InSiGHT, PubMed: Lagerstedt-Robinson 2016 - - Germline, SUMMARY record - - - - - Kristina Lagerstedt Robinson, InSiGHT - John-Paul Plazzer
+/. 3 _1_1i c.(?_-1)_(211+1_212-1)del r.0? p.0? - pathogenic g.(?_47630330)_(47630542_47635539)del - deletion exon 1 - MSH2_000005 ICCON data, Royal Prince Alfred/Liverpool, NSW, ICCON data, Westmead, NSW contributed by Dept. of Dr Vaccaro - - Germline - - - - - InSiGHT - John-Paul Plazzer, Angela Solano & F Cardoso
+/. 2 _1_2i c.(?_-1)_(366+1_367-1)del r.0? p.0? - pathogenic g.(?_47630330)_(47635695_47637232)del - - - MSH2_000006 ICCON data, Prince of Wales Hospital, NSW, ICCON data, Royal Prince Alfred/Liverpool, NSW - - - Germline - - - - - InSiGHT - John-Paul Plazzer
+/. 1 _1_4i c.(?_-1)_(792+1_793-1)del r.0? p.0? - pathogenic g.(?_47630330)_(47639700_47641407)del - - - MSH2_000008 ICCON data, Westmead, NSW - - - Germline - - - - - InSiGHT - John-Paul Plazzer
+/., ?/. 2 _1_6i c.(?_-1)_(1076+1_1077-1)del r.0?, r.? p.0?, p.? - pathogenic, pathogenic (dominant) g.(47612350_47613710)_(47643569_47656880)del, g.(?_47596644)_(47643569_47656880)del g.? deletion EPCAM exon 9 to MSH2 exon 6 - EPCAM_000005 - PubMed: Rossi 2017 - - Germline - - - - - INSiGHT group, Mamata Sivagnanam
+/. 2 1_7 c.(?_-1)_(1276+1_1277-1)del r.0? p.0? - pathogenic g.(?_47630330)_(47657081_47672686)del - - - MSH2_000002 ICCON data, Prince of Wales Hospital, NSW, ICCON data, Westmead, NSW - - - Germline - - - - - InSiGHT - John-Paul Plazzer
+/. 1 1_10 c.(?_-1)_(1661+1_1662-1)del r.0? p.0? - pathogenic g.(?_47630330)_(47693948_47698103)del - - - MSH2_000003 ICCON data, Royal Prince Alfred/Liverpool, NSW - - - Germline - - - - - InSiGHT - John-Paul Plazzer
+?/. 1 - (NM_002354.2):c.(184+1_185-1)::(NM_000251.2):c.(1386+1_1387-1) r.(?) p.(?) ACMG pathogenic g.(47600710_47600946)_(47672797_47690169)del - - - MSH2_001887 1 more item - - - Germline ? - - - - Andreas Laner
+/. 1 _1_16_ c.0 r.0 p.0 - pathogenic g.(47600710_47600946)_(47710089_?)del - deletion EPCAM exon 3 to MSH2 exon 16 (*272_?) - EPCAM_000006 - Desiree du Sart - - Germline - - - - - INSiGHT group
+/. 1 - c.= r.0 p.0 - pathogenic (dominant) g.47611613_47615743del g.47384474_47388604del 859-672_*2170del - EPCAM_000065 4130 bp deletion C_AluSx1 to C_AluSq2; MSH2 gene not expressed (methylated) PubMed: Eguchi 2015 - - Germline - - - - allele methylated Mamata Sivagnanam
+/. 1 _1 c.? r.? p.? - pathogenic g.(47612350_47613710)_(47613753_47630323)del - - - EPCAM_000087 Suppresses expression of MSH2 - - - Germline - - - - - Nancy Uhrhammer
+?/. 1 - c.[NM_002354.2:859-689]::-1906 r.(?) p.(?) ACMG pathogenic g.47611617_47628424del g.47384478_47401285del g.47611616::47628425 - MSH2_001888 1 more item - - - Germline ? - - - - Andreas Laner
?/., ?/? 6 1 c.1A>C r.(?), r.? p.(Met1?), p.? - NA, VUS g.47630331A>C g.47403192A>C chr2_47630331_A_C - MSH2_001065 VKGL data sharing initiative Nederland, Insight class: 3, 1 more item InSiGHT, PubMed: Barnetson 2006, PubMed: Barnetson 2008, PubMed: Dorling 2021, Journal: Dorling 2021 - - CLASSIFICATION record, Germline, SUMMARY record - 2/60466 cases, 4/53461 controls - - - InSiGHT - John-Paul Plazzer, Michael Woods, VKGL-NL_Nijmegen, BRIDGES consortium
?/., ?/? 7 1 c.1A>G r.(?), r.? p.(Met1?), p.? - NA, VUS g.47630331A>G g.47403192A>G chr2_47630331_A_G, Deletion of Exon 1-6, ;MSH2(NM_000251.2):c.1A>G (p.M1?) - MSH2_001066 VKGL data sharing initiative Nederland, Insight class: 3, 1 more item InSiGHT, PubMed: Dorling 2021, Journal: Dorling 2021, PubMed: Kets 2009 - - CLASSIFICATION record, Germline, SUMMARY record - 3/53461 controls, 5/60466 cases - - - InSiGHT - John-Paul Plazzer, Michael Woods, VKGL-NL_Nijmegen, VKGL-NL_AMC, BRIDGES consortium
+/., ?/? 2 1 c.1A>T r.(?) p.(Met1?) - pathogenic, VUS g.47630331A>T g.47403192A>T Authors suggest start codon at Met26. - MSH2_000030 Insight class: 3 InSiGHT, PubMed: Farrington 1998 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, INSiGHT group
?/. 1 - c.2T>A r.? p.? - NA g.47630332T>A - chr2_47630332_T_A - MSH2_001944 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
+/-?, -?/-?, -?/., ?/-?, ?/. 25 1 c.4G>A r.(?), r.4g>a p.(Ala2Thr), p.Ala2Thr InSiGHT likely benign, NA, pathogenic, VUS g.47630334G>A g.47403195G>A A2T, chr2_47630334_G_A, G>A at 4, MSH2(NM_000251.2):c.4G>A (p.A2T) - MSH2_000276 VKGL data sharing initiative Nederland, Insight class: 2, {GR:344}, 1 more item InSiGHT, Myriad et al.,, PubMed: Dorling 2021, Journal: Dorling 2021, PubMed: Kurzawski 2006, 7 more items - - CLASSIFICATION record, Germline, SUMMARY record, Unknown - -, 24/53461 controls, 29/60466 cases - - - InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group, Rolf Sijmons, Peter Propping, Prof. Dr. med., Beate Dr. Betz, Amie Blanco, Andreas Laner, VKGL-NL_Groningen, VKGL-NL_AMC, BRIDGES consortium
+/., ?/., ?/? 3 1 c.4_21dup r.(?) p.(Ala2_Glu7dup) - pathogenic, VUS g.47630334_47630351dup g.47403195_47403212dup ex2-7dup - MSH2_001221 Insight class: 3 InSiGHT, PubMed: Kruger 2003, PubMed: Kruger 2003; PubMed: Mangold 2005 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group
?/. 1 - c.5C>A r.(?) p.(Ala2Glu) - NA g.47630335C>A - chr2_47630335_C_A - MSH2_001945 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.5C>T r.(?) p.(Ala2Val) - NA g.47630335C>T - chr2_47630335_C_T - MSH2_001946 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 7/60466 cases - - - BRIDGES consortium
-?/-?, ?/. 2 1 c.6G>T r.(?) p.(=) - likely benign, VUS g.47630336G>T g.47403197G>T - - MSH2_001383 Insight class: 2 InSiGHT, PubMed: Thompson 2013 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Mark Jenkins
?/. 1 - c.7G>A r.(?) p.(Val3Met) - NA g.47630337G>A - chr2_47630337_G_A - MSH2_001947 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
-/-, ?/. 2 - c.7G>T r.(?) p.(Val3Leu) - benign, NA g.47630337G>T g.47403198G>T chr2_47630337_G_T - MSH2_001830 Insight class: 1, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline, SUMMARY record - 1/53461 controls - - - InSiGHT - John-Paul Plazzer, BRIDGES consortium
?/. 2 - c.10C>A r.(?) p.(Gln4Lys) - NA, VUS g.47630340C>A g.47403201C>A chr2_47630340_C_A - MSH2_001907 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Dorling 2021, Journal: Dorling 2021, PubMed: Narang 2020, Journal: Narang 2020 - rs730881775 Germline - 1/2795 individuals, 2/60466 cases - - - Mohammed Faruq, BRIDGES consortium
?/. 1 - c.10C>T r.(?) p.(Gln4*) - VUS g.47630340C>T g.47403201C>T - - MSH2_001908 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs730881775 Germline - 1/2795 individuals - - - Mohammed Faruq
?/. 1 - c.11A>T r.(?) p.(Gln4Leu) - NA g.47630341A>T - chr2_47630341_A_T - MSH2_001948 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
+/., ?/., ?/? 7 1 c.14C>A r.(?), r.14c>a p.(Pro5Gln), p.Pro5Gln - NA, pathogenic, VUS g.47630344C>A g.47403205C>A A>C at 14 and Pro>His, C>A, chr2_47630344_C_A, P5Q - MSH2_000277 Insight class: 3, {GR:531}, 1 more item InSiGHT, PubMed: Cai 2003, PubMed: Chao 2008, PubMed: Dorling 2021, Journal: Dorling 2021, 2 more items - - Germline, SUMMARY record - -, 15/60466 cases, 5/53461 controls - - - InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group, Rolf Sijmons, BRIDGES consortium
?/. 1 - c.14C>G r.(?) p.(Pro5Arg) - NA g.47630344C>G - chr2_47630344_C_G - MSH2_001950 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.14C>T r.(?) p.(Pro5Leu) - NA g.47630344C>T - chr2_47630344_C_T - MSH2_001949 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - - - BRIDGES consortium
?/. 1 - c.16A>G r.(?) p.(Lys6Glu) - NA g.47630346A>G - chr2_47630346_A_G - MSH2_001951 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
+/. 1 - c.17_20del r.(?) p.(Lys6Argfs*57) - pathogenic g.47630347_47630350del g.47403208_47403211del Frameshift - MSH2_001648 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - Kristina Lagerstedt Robinson
?/. 1 - c.19G>A r.(?) p.(Glu7Lys) - NA g.47630349G>A - chr2_47630349_G_A - MSH2_001952 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
+/. 1 1 c.19_20insT r.(?) p.(Glu7Valfs*75) - pathogenic g.47630349_47630350insT g.47403210_47403211insT - - MSH2_000147 Submitted by ICCon South Australia - - - Germline - - - - - ICCon
+/+, +/. 2 1 c.20del r.(?) p.(Glu7Glyfs*57) - pathogenic g.47630350del g.47403211del - - MSH2_001103 Insight class: 5 InSiGHT, PubMed: Julie 2008 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
+/+, +/. 2 1 c.21dup r.(?) p.(Thr8Aspfs*74) - pathogenic g.47630351dup g.47403212dup - - MSH2_001118 Insight class: 5 InSiGHT, PubMed: Kim 2001 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
-/-, -/., -?/., ?/. 14 1 c.23C>T r.(?), r.23c>u p.(Thr8Met), p.Thr8Met InSiGHT benign, likely benign, VUS g.47630353C>T g.47403214C>T MSH2(NM_000251.2):c.23C>T (p.T8M), T8M - MSH2_000055 VKGL data sharing initiative Nederland, Insight class: 1, {GR:532} InSiGHT, PubMed: Chao 2008, PubMed: Nomura 2000, PubMed: Sheng 2008, PubMed: Wang 2006, 2 more items - - CLASSIFICATION record, Germline, SUMMARY record, Unknown - - - - - Carli Tops, InSiGHT - John-Paul Plazzer, Michael Woods, Rolf Sijmons, Peng Nan, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc, Jack Ji
-?/. 1 - c.26T>C r.(?) p.(Leu9Pro) - likely benign g.47630356T>C g.47403217T>C - - MSH2_001692 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, +/. 2 1 c.28C>T r.(?) p.(Gln10*) - pathogenic g.47630358C>T g.47403219C>T - - MSH2_001199 Insight class: 5 InSiGHT, PubMed: Mangold 2005 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
+/+, +/. 2 1 c.29dup r.(?) p.(Leu11Valfs*71) - pathogenic g.47630359dup g.47403220dup - - MSH2_001202 Insight class: 5 InSiGHT, PubMed: Mangold 2005 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
+/+, +/. 4 1 c.34dup r.(?) p.(Glu12Glyfs*70) - pathogenic g.47630364dup g.47403225dup - - MSH2_001208 Insight class: 5 InSiGHT, PubMed: Colombino 2003, PubMed: Colombino 2003, Genuardi (unpublished), 1 more item - - Germline, SUMMARY record - - - - - Maurizio Genuardi, InSiGHT - John-Paul Plazzer, Michael Woods
?/. 2 - c.36G>C r.(?) p.(Glu12Asp) - NA g.47630366G>C - chr2_47630366_G_C - MSH2_001953 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.37A>G r.(?) p.(Ser13Gly) - NA g.47630367A>G - chr2_47630367_A_G - MSH2_001954 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.38G>A r.(?) p.(Ser13Asn) - NA g.47630368G>A - chr2_47630368_G_A - MSH2_001955 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases, 2/53461 controls - - - BRIDGES consortium
?/., ?/? 5 1 c.38G>T r.(?) p.(Ser13Ile) - VUS g.47630368G>T g.47403229G>T S13I - MSH2_000049 Insight class: 3, {GR:436} InSiGHT, PubMed: Chao 2008, PubMed: Colombino 2003, PubMed: Colombino 2005 - - Germline, SUMMARY record, Unknown - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, Rolf Sijmons
?/. 1 - c.39C>A r.(?) p.(Ser13Arg) - NA g.47630369C>A - chr2_47630369_C_A - MSH2_001956 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.47A>C r.(?) p.(Glu16Ala) - NA g.47630377A>C - chr2_47630377_A_C - MSH2_001957 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.49G>C r.(?) p.(Val17Leu) - NA g.47630379G>C - chr2_47630379_G_C - MSH2_001958 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
+/., ?/., ?/? 7 1 c.49G>T r.(?) p.(Val17Phe) - pathogenic, VUS g.47630379G>T g.47403240G>T V17F - MSH2_000059 Insight class: 3, {GR:438} InSiGHT, PubMed: Chao 2008, PubMed: Kim 2001, PubMed: Kim 2004 - - Germline, SUMMARY record, Unknown - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, Rolf Sijmons
?/., ?/? 2 1 c.54C>G r.(?) p.(=) - VUS g.47630384C>G g.47403245C>G - - MSH2_001240 Insight class: 3 InSiGHT, PubMed: Wang 2006 - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
-?/., ?/. 2 - c.55T>C r.(?) p.(Phe19Leu) - likely benign, NA g.47630385T>C g.47403246T>C chr2_47630385_T_C, MSH2(NM_000251.2):c.55T>C (p.F19L) - MSH2_001811 VKGL data sharing initiative Nederland, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - CLASSIFICATION record, Germline - 1/60466 cases - - - VKGL-NL_AMC, BRIDGES consortium
?/. 1 - c.56T>C r.(?) p.(Phe19Ser) - NA g.47630386T>C - chr2_47630386_T_C - MSH2_001959 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.57C>A r.(?) p.(Phe19Leu) - NA g.47630387C>A - chr2_47630387_C_A - MSH2_001960 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.58G>C r.(?) p.(Val20Leu) - NA g.47630388G>C - chr2_47630388_G_C - MSH2_001961 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.62G>A r.(?) p.(Arg21His) - NA g.47630392G>A - chr2_47630392_G_A - MSH2_001962 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.64T>C r.(?) p.(Phe22Leu) - NA g.47630394T>C - chr2_47630394_T_C - MSH2_001963 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.67T>C r.(?) p.(Phe23Leu) - NA g.47630397T>C - chr2_47630397_T_C - MSH2_001964 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 6/53461 controls, 8/60466 cases - - - BRIDGES consortium
?/. 1 - c.70C>G r.(?) p.(Gln24Glu) - NA g.47630400C>G - chr2_47630400_C_G - MSH2_001965 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
+/. 1 - c.70C>T r.(?) p.(Gln24*) - pathogenic g.47630400C>T g.47403261C>T - - MSH2_001909 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587779976 Germline - 1/2795 individuals - - - Mohammed Faruq
+/. 1 1 c.71del r.(?) p.(Gln24Argfs*40) - pathogenic g.47630401del g.47403262del 71delA - MSH2_000244 1 more item PubMed: Dominguez-Valentin 2013, PubMed: Rossi 2017 - - Germline - - - - - Mev Dominguez Valentin
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