Unique variants in gene MSH6


Criteria used for classification are available from 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 We encourage submission of relevant unpublished information to assist in the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_000179.2 transcript reference sequence.

929 entries on 10 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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 - c.1094ˆ1095G>A VUS r.(?) p.(Trp365*) g.48026216ˆ48026217G>A - p.Trp365X - MSH6_000934 identified in a glioblastoma multiforme tumour sample PubMed: Maxwell 2008 - - Somatic - - - - - Michael Woods
?/., ?/? 2 1 c.-13022_-1711del VUS r.? p.? g.47997351_48008662del - - - MSH6_000012 Insight class: 3 PubMed: van der Klift 2005 - - Germline, SUMMARY record - - - - - Carli Tops, InSiGHT - John-Paul Plazzer
+/., +/+ 2 1_2i c.-11863_457+1921del pathogenic r.? p.? g.47998510_48020183del - - - MSH6_000002 21.6 Kb deletion exon 1-2, Insight class: 5 PubMed: van der Klift 2005 - - Germline, SUMMARY record - - - - - Carli Tops, InSiGHT - John-Paul Plazzer
+/., +/+ 3 1_2i c.-3097_457+2010del pathogenic r.? p.? g.48007276_48020272del - - - MSH6_000003 13.0 Kb deletion promoter to exon 2, Insight class: 5 PubMed: Plaschke 2003, PubMed: Plaschke 2004 - - Germline, SUMMARY record - - - - - Michael Woods, InSiGHT - John-Paul Plazzer
?/., -/- 5 1 c.-557T>G VUS, benign r.(=) p.(=) g.48009816T>G - -556G>T (rs3136228), -556G>T - MSH6_000597 Insight class: 1 PubMed: Tulupova 2008, PubMed: Gazzoli 2003 - - Germline, SUMMARY record - - - - - Michael Woods, InSiGHT - John-Paul Plazzer
?/., -/-, -/. 3 1 c.-448G>A VUS, benign r.(=) p.(=) g.48009925G>A g.47782786G>A - - MSH6_000591 Insight class: 1, found homozygeous; c.-159C>T und c.-448G>A, 1 more item PubMed: Gazzoli 2003 - - Germline, SUMMARY record - - - - - Michael Woods, InSiGHT - John-Paul Plazzer, Andreas Laner
?/., -/- 2 1 c.-210C>T VUS, benign r.(=) p.(=) g.48010163C>T - - - MSH6_000429 Functional studies indicate Inactivation of splice1 site, Insight class: 1 PubMed: Gazzoli 2003 - - Germline, SUMMARY record - - - - - Michael Woods, InSiGHT - John-Paul Plazzer
?/., -/- 5 1 c.-159C>T VUS, benign r.(=) p.(=) g.48010214C>T - - - MSH6_000401 Insight class: 1 PubMed: Mrkonjic 2007, PubMed: Peterlongo 2003 - - Germline, SUMMARY record - - - - - Michael Woods, InSiGHT - John-Paul Plazzer
+/., ?/. 2 _1_1i c.(?_-152)_(260+1_261-1)del pathogenic, VUS r.? p.? g.(?_48010221)_(48010633_48018065)del - (?_-152)_260+?del/Del exon 1 - MSH6_000174 Not classified DUPLICATE – to be removed - - Germline, SUMMARY record - - - - - Thomas Hansen, InSiGHT - John-Paul Plazzer
+/., +/+ 5 _1_2i c.(?_-152)_(457+1_458-1)del pathogenic r.? p.? g.(?_48010221)_(48018263_48023032)del - 1-?_475+?del, 1-?_457+?del, MSH6:(?_-152)_457+?del breakpoint not tested - MSH6_000001 deletion of exon 1-2, deletion of 21.6 kb around exon 1+2, in cis with c.2008G>A,p.Gly670Arg, 1 more item PubMed: Kets 2006, PubMed: Overbeek 2007, Carli Tops, Daniela Barana - - Germline, SUMMARY record - - - - - Michael Woods, INSiGHT group, InSiGHT - John-Paul Plazzer
+/., +?/., +/+ 5 _1_10_ c.(?_-152)_(*93_?)del pathogenic, likely pathogenic r.? p.? g.(?_48010221)_(48034092_?)del - del MSH2 ex1_16, delTACSTD1-15,-27, del MSH6, (?_-152)_(*93_?)del/Del exon 1-10 - MSH6_000911 deletion entire gene, Insight class: 5 PubMed: Nilbert 2008, {PMID:Nilbert Fam Cancer. 2009;8(1):75-83.:18566915} - - Germline, SUMMARY record - - - - - Michael Woods, Amanda Spurdle, Carli Tops, InSiGHT - John-Paul Plazzer, Thomas Hansen
?/. 3 1 c.-118G>A VUS r.(=) p.(=) g.48010255G>A - -118G>A - MSH6_000121 Not classified DUPLICATE – to be removed - - Germline, SUMMARY record - - - - - Thomas Hansen, InSiGHT - John-Paul Plazzer
?/., -?/-? 2 1 c.-88G>A VUS, likely benign r.(=) p.(=) g.48010285G>A - - - MSH6_000792 Insight class: 2 - - - Germline, SUMMARY record - - - - - Hanno Roomere, InSiGHT - John-Paul Plazzer
?/., ?/? 3 1 c.-18G>T VUS r.(=) p.(=) g.48010355G>T - - - MSH6_000006 Insight class: 3 PubMed: Lamberti 2006 - - Germline, SUMMARY record - - - - - Carli Tops, Michael Woods, InSiGHT - John-Paul Plazzer
?/., ?/? 2 1 c.-8C>T VUS r.(=) p.(=) g.48010365C>T - - - MSH6_000770 Insight class: 3 - - - Germline, SUMMARY record - - - - - Bert Redeker, InSiGHT - John-Paul Plazzer
+/. 1 _1_3i c.(?_-1)_(645+1_646-1)del pathogenic r.? p.0? g.? - 1?_645+?del - MSH6_000893 Submitter has reported the nomenclature for deletion of MSH2 exon 1 to 3 not MSH6 - - - Germline - - - - - José Luis Soto
?/., +/. 2 _1_6i c.(?_-1)_(3556+1_3557-1)del VUS, pathogenic r.? p.? g.(?_48010373)_(48032167_48032756)del - - - MSH6_000084 Submitted by ICCon – South Australia DUPLICATE – to be removed - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, ICCon
+/. 1 - c.(?_-152)_ (260+1_261-1)del pathogenic r.? p.? g.(?_48010221)_(48010633_48018065)del - 1-?_ 260 +?del - MSH6_000174 - PubMed: Ziada-Bouchaar 2016 - - Germline - - - - - Ziada-Bouchaar Hadia
+/., ?/. 2 _1_2i c.(?_1)_(457+1_458-1)del pathogenic, VUS r.? p.? g.(?_48010373)_(48018263_48023032)del - - - MSH6_000042 ICCON data, Westmead, NSW DUPLICATE – to be removed - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer
+/., +?/+? 5 1 c.3G>T pathogenic, likely pathogenic r.? p.? g.48010375G>T - - - MSH6_000056 Proband also carries the MSH6 VLB p.N21K, co-occurrence with MSH2 c.408DELT mutation, Insight class: 4, 1 more item - - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer
+/. 1 1 c.23_26del pathogenic r.(?) p.Tyr8SerfsTer8 g.48010395_48010398del - 23_26delACAG - MSH6_000913 1 more item PubMed: Rossi 2017 - - Germline - - - - - Mev Dominguez Valentin
?/., ?/? 5 1 c.38A>C VUS r.(?) p.(Lys13Thr) g.48010410A>C - K13T - MSH6_000033 0/1104 controls, Insight class: 3, ClustalW AA not conserved, PolyPhen possibly damaging, 1 more item PubMed: Barnetson 2008 - - Germline, SUMMARY record, In silico - - - - - Michael Woods, InSiGHT - John-Paul Plazzer, Rolf Sijmons
?/. 1 1 c.44C>T VUS r.(?) p.Pro15Leu g.48010416C>T - 44C>T - MSH6_000914 1 more item ClinVar, PubMed: Rossi 2017 - - Germline - - - - - Mev Dominguez Valentin
?/., -?/., ?/?, -/. 9 1 c.59C>T VUS, likely benign, benign r.(?) p.(Ala20Val) g.48010431C>T g.47783292C>T 59C>T, MSH6(NM_000179.2):c.59C>T (p.A20V) - MSH6_000591 VKGL data sharing initiative Nederland, Insight class: 3, MMR activity {PMID:Nilbert Fam Cancer. 2009;8(1):75-83.:18566915}, PubMed: Charames 2000, PubMed: Nilbert 2008, 1 more item - - Germline, CLASSIFICATION record, SUMMARY record, In vitro (cloned) - - - - - Thomas Hansen, Michael Woods, VKGL-NL_VUmc, InSiGHT - John-Paul Plazzer, INSiGHT group, VKGL-NL_Groningen, Andreas Laner
?/., ?/? 2 1 c.62A>G VUS r.(?) p.(Asn21Ser) g.48010434A>G - - - MSH6_000606 Insight class: 3 PubMed: Nilbert 2008,PubMed: Okkels 2012 - - Germline, SUMMARY record - - - - - Michael Woods, InSiGHT - John-Paul Plazzer
-?/., ?/. 3 1 c.63C>G likely benign, VUS r.(?) p.(Asn21Lys) g.48010435C>G - - - MSH6_000058 1 more item DUPLICATE – to be removed - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer
+/. 1 1 c.71C>A pathogenic r.(?) p.(Ser24*) g.48010443C>A - - - MSH6_001168 1 more item - - - Germline - - - - - Caixia Ren
?/., -?/., ?/?, -/. 16 1 c.73G>T VUS, likely benign, benign r.(?) p.(Ala25Ser) g.48010445G>T g.47783306G>T 73G>T, MSH6(NM_000179.2):c.73G>T (p.A25S) - MSH6_000615 VKGL data sharing initiative Nederland, Insight class: 3, MMR activity, 1 more item {PMID:Nilbert Fam Cancer. 2009;8(1):75-83.:18566915}, PubMed: Nilbert 2008, PubMed: Haraldsdottir 2018, 1 more item - - Germline, CLASSIFICATION record, SUMMARY record, In vitro (cloned) - 0.51 - - - Thomas Hansen, VKGL-NL_Groningen, VKGL-NL_Nijmegen, Michael Woods, Ans M.W. van den Ouweland, Hans Gille, InSiGHT - John-Paul Plazzer, INSiGHT group, VKGL-NL_Utrecht, Sigurdis Haraldsdottir, VKGL-NL_AMC, Andreas Laner, VKGL-NL_Rotterdam
-?/. 1 - c.94G>T likely benign r.(?) p.(Gly32Cys) g.48010466G>T - MSH6(NM_000179.2):c.94G>T (p.G32C) - chr2_014303 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.102del pathogenic r.(?) p.(Ala35Profs*46) g.48010474del - MSH6(NM_000179.2):c.102del (p.(Ala35fs)) - chr2_014304 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.107C>T likely benign r.(?) p.(Ala36Val), p.Ala36Val g.48010479C>T - - - MSH6_001166 2 more items - - rs61756469 Germline ? - - - - Andreas Laner
?/., ?/? 2 1 c.108T>G VUS r.(=) p.(=) g.48010480T>G - T->G at 108 - MSH6_000009 Insight class: 3 PubMed: Nicolaides 1996 - - Germline, SUMMARY record - - - - - INSiGHT group, InSiGHT - John-Paul Plazzer
?/., -/., -/- 88 1 c.116G>A VUS, benign r.(?), r.116g>a p.(Gly39Glu), p.Gly39Glu g.48010488G>A - p.Gly39Glu, G>A at 116, MSH6(NM_000179.2):c.116G>A (p.G39E), 116G>A, Het 116G>A (p.G39E)., 4 more items - MSH6_000915 no significant association with breast cancer risk, Insight class: 1, 5 more items PubMed: Zidan 2007, PubMed: Hirata 2008, Desiree du Sart, PubMed: Smith 2008, PubMed: Kolodner 1999, 29 more items - - Germline, Somatic, SUMMARY record, CLASSIFICATION record - - - - - Michael Woods, Jack Ji, Peter Propping, Prof. Dr. med., Ruth Armstrong, INSiGHT group, InSiGHT - John-Paul Plazzer, VKGL-NL_NKI, Felipe Silva, VKGL-NL_Rotterdam, VKGL-NL_AMC, VKGL-NL_Nijmegen, Angela Solano & F Cardoso, VKGL-NL_Groningen
-?/. 1 - c.120C>G likely benign r.(?) p.(=) g.48010492C>G - MSH6(NM_000179.2):c.120C>G (p.=) - chr2_014305 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., ?/? 3 1 c.124C>T VUS r.(?) p.(Pro42Ser), p.Pro42Leu g.48010496C>T - p.Pro42Leu, 124C>T - MSH6_000727 Insight class: 3, 1 more item PubMed: da Silva 2015, PubMed: Rossi 2017 - - Germline, SUMMARY record - - - - - Felipe Silva, InSiGHT - John-Paul Plazzer, Mev Dominguez Valentin
?/. 1 - c.135C>T VUS r.(=) p.(=) g.48010507C>T g.47783368C>T - - MSH6_001001 - - - - Germline - - - - - Andreas Laner
-?/. 1 - c.147C>T likely benign r.(?) p.(=) g.48010519C>T - MSH6(NM_000179.2):c.147C>T (p.=) - chr2_014306 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/., ?/. 2 1 c.151_167dup pathogenic, VUS r.(?) p.(Pro57Alafs*30) g.48010523_48010539dup - 151_167dup - MSH6_000178 - DUPLICATE – to be removed - - De novo, SUMMARY record - - - - - Ian Frayling, InSiGHT - John-Paul Plazzer
+/. 1 - c.159_189delinsCAGGGA pathogenic r.(?) p.Gly54Argfs*19 g.48010531_48010561delinsCAGGGA - disruptive variant - MSH6_001002 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - Stephanie Baert-Desurmont
?/., -?/-? 2 1 c.161G>C VUS, likely benign r.(?) p.(Gly54Ala) g.48010533G>C - - - MSH6_000404 somatic, Insight class: 2 PubMed: Peterlongo 2003 - - Germline, SUMMARY record - - - - - Michael Woods, InSiGHT - John-Paul Plazzer
-?/. 1 - c.165T>G likely benign r.(?) p.(=) g.48010537T>G - MSH6(NM_000179.2):c.165T>G (p.=) - MSH6_000865 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.167G>A likely benign r.(?) p.(Gly56Glu) g.48010539G>A - MSH6(NM_000179.2):c.167G>A (p.(Gly56Glu)) - chr2_014307 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 1 c.178T>C likely benign r.(=) p.(=) g.48010550T>C - 178T>C - MSH6_000123 - - - - Germline - - - - - Thomas Hansen
?/. 1 1 c.181G>A VUS r.(?) p.(Ala61Thr) g.48010553G>A - - - MSH2_000091 - - - - Germline - - - - - Barbara Luisa Soares
?/. 1 - c.182C>T VUS r.(?) p.(Ala61Val) g.48010554C>T - MSH6(NM_000179.2):c.182C>T (p.A61V) - MSH6_001003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., ?/., -?/., -/- 61 1 c.186C>A benign, VUS, likely benign r.(=), r.(?) p.(=), p.(Arg62=) g.48010558C>A - p.Arg62Arg, MSH6(NM_000179.2):c.186C>A (p.=), A>C, Authors describe this as 186G>A, 186A>C, 4 more items - MSH6_000917 VKGL data sharing initiative Nederland, Insight class: 1 PubMed: Zidan 2007, Desiree du Sart, Desiree du Sart, Desiree du Sart, Desiree du Sart, 16 more items - - Germline, CLASSIFICATION record, SUMMARY record - - - - - Jack Ji, Michael Woods, Peter Propping, Prof. Dr. med., Martin Kask, INSiGHT group, InSiGHT - John-Paul Plazzer, VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_NKI, VKGL-NL_Groningen, VKGL-NL_Nijmegen, Angela Solano & F Cardoso
-?/-?, -?/., ?/. 5 1 c.194C>T likely benign, VUS r.(?) p.(Ser65Leu) g.48010566C>T - S65L - MSH6_000035 Insight class: 2, SIFT score tolerated, PolyPhen benign, ClustalW AA not conserved, 0/1104 controls PubMed: Barnetson 2008 - - SUMMARY record, In silico, Germline - - - - - InSiGHT - John-Paul Plazzer, Rolf Sijmons, Michael Woods
-?/. 1 - c.208A>G likely benign r.(?) p.(Lys70Glu) g.48010580A>G - MSH6(NM_000179.2):c.208A>G (p.K70E) - MSH6_001004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 1 c.220G>T VUS r.(?) p.(Gly74*) g.48010592G>T - - - MSH6_000901 - DUPLICATE – to be removed, PubMed: Hampel 2007 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer
-?/., -?/-?, ?/. 7 1 c.241G>A likely benign, VUS r.(?) p.(Ala81Thr) g.48010613G>A - 241G>A - MSH6_000629 Insight class: 2 Noralane Lindor and Steve Thibodeau, Noralane Lindor and Steve Thibodeau, 2 more items - - Germline, SUMMARY record - - - - - Thomas Hansen, InSiGHT - John-Paul Plazzer, Elke Holinski-Feder, INSiGHT group
-?/., ?/?, ?/. 4 1 c.255C>A likely benign, VUS r.(?), r.(=) p.(=) g.48010627C>A - MSH6(NM_000179.2):c.255C>A (p.P85=) - MSH6_000359 VKGL data sharing initiative Nederland, Insight class: 3 - - - CLASSIFICATION record, SUMMARY record, Germline - - - - - VKGL-NL_Nijmegen, InSiGHT - John-Paul Plazzer, Peter Propping, Prof. Dr. med., VKGL-NL_Utrecht
?/., +/. 2 1 c.255dup VUS, pathogenic r.(?) p.(Thr86Hisfs*4) g.48010627dup - - - MSH6_000070 - DUPLICATE – to be removed - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Gabriel Capella
+/. 1 - c.260+2_260+3delinsAG pathogenic r.spl? p.? g.48010634_48010635delinsAG - - - MSH6_000918 - PubMed: Dillon 2017 - - Germline - - - - - InSiGHT - John-Paul Plazzer
?/., -?/., -/., -/- 20 1i c.260+22C>G VUS, likely benign, benign r.(=), r.(?) p.(=) g.48010654C>G - MSH6(NM_000179.2):c.260+22C>G, c>g at 260+22, 260+22C>G - MSH6_000013 VKGL data sharing initiative Nederland, Insight class: 1 PubMed: Plaschke 2000, PubMed: Kolodner 1999, PubMed: Peterlongo 2003, PubMed: Woods 2005, 2 more items - - Germline, CLASSIFICATION record, SUMMARY record - - - - - Peter Propping, Prof. Dr. med., Martin Kask, VKGL-NL_Rotterdam, VKGL-NL_NKI, InSiGHT - John-Paul Plazzer, INSiGHT group, Michael Woods, Angela Solano & F Cardoso
?/?, ?/. 2 1i c.260+25A>C VUS r.(=) p.(=) g.48010657A>C - - - MSH6_000451 Insight class: 3 PubMed: Woods 2005 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
?/?, ?/. 2 1i c.260+43G>A VUS r.(=) p.(=) g.48010675G>A - - - MSH6_000452 Insight class: 3 PubMed: Woods 2005 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
?/?, ?/. 2 1i c.260+96A>C VUS r.(=) p.(=) g.48010728A>C - - - MSH6_000453 Insight class: 3 PubMed: Woods 2005 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
?/?, ?/. 2 1i c.260+101C>A VUS r.(=) p.(=) g.48010733C>A - - - MSH6_000448 Insight class: 3 PubMed: Woods 2005 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
?/?, ?/. 2 1i c.260+131C>A VUS r.(=) p.(=) g.48010763C>A - - - MSH6_000449 Insight class: 3 PubMed: Woods 2005 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
-/-, ?/. 6 1i c.260+2214C>T benign, VUS r.(=) p.(=) g.48012846C>T - described as in intron 2 - MSH6_000450 Insight class: 1 PubMed: Hirata 2008, PubMed: Song 2006, PubMed: Schafmayer 2007 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
?/., -/- 2 1i c.260+2467A>G VUS, benign r.(=) p.(=) g.48013099A>G - - - MSH6_000446 Insight class: 1 PubMed: Schafmayer 2007 - - Germline, SUMMARY record - - - - - Michael Woods, InSiGHT - John-Paul Plazzer
-/-, ?/. 2 1i c.261-1170G>T benign, VUS r.(=) p.(=) g.48016896G>T - - - MSH6_000456 Insight class: 1 PubMed: Song 2006 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
-/., -/-, ?/. 9 1i c.261-36A>G benign, VUS r.(?), r.(=) p.(=) g.48018030A>G - MSH6(NM_000179.2):c.261-36A>G - MSH6_000021 VKGL data sharing initiative Nederland, Insight class: 1 PubMed: Thodi 2010, PubMed: Kolodner 1999, PubMed: Plaschke 2000, PubMed: Chan 1999, PubMed: Parc 2000, 2 more items - - Germline, CLASSIFICATION record, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer, VKGL-NL, INSiGHT group, Michael Woods
?/. 1 - c.261-?_457+?dup VUS r.(?) p.? g.48018066_48018262dup - Duplication exon 2 - MSH6_000919 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - Kristina Lagerstedt Robinson
?/?, ?/. 3 1i_2i c.(260+1_261-1)_(457+1_458-1)dup VUS r.? p.? g.(48010633_48018065)_(48018263_48023032)dup - 265-?_457+?dup (duplication exon 2) - MSH6_000454 Insight class: 3 PubMed: Kets 2006, PubMed: Overbeek 2007 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
+/. 1 1i_10_ c.(260+1_261-1)_(*93_?)dup pathogenic r.? p.? g.(48010633_48018065)_(48034092_?)del - 261-?_*93+?dup [1.467 Mb interstitial duplication (2p16.3-2p16.3)] - MSH6_000179 - - - - De novo - - - - - Ian Frayling
-?/. 1 - c.265G>A likely benign r.(?) p.(Asp89Asn) g.48018070G>A - MSH6(NM_000179.2):c.265G>A (p.(Asp89Asn)) - chr2_014308 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., ?/., -?/., -/- 65 2 c.276A>G benign, VUS, likely benign r.(?), r.(=) p.(Pro92=), p.(=) g.48018081A>G - p.Pro92Pro, MSH6(NM_000179.2):c.276A>G (p.=), G>A, 4 more items - MSH6_000920 VKGL data sharing initiative Nederland, Insight class: 1 contributed by Dept. of Dr Vaccaro, PubMed: Zidan 2007, Desiree du Sart, Desiree du Sart, 18 more items - - Germline, CLASSIFICATION record, SUMMARY record - - - - - Angela Solano & F Cardoso, Jack Ji, Michael Woods, VKGL-NL_Groningen, VKGL-NL_Rotterdam, Peter Propping, Prof. Dr. med., Martin Kask, INSiGHT group, VKGL-NL_AMC, InSiGHT - John-Paul Plazzer, VKGL-NL_NKI, VKGL-NL_Nijmegen
+/. 1 - c.280del pathogenic r.(?) p.(Asp94Ilefs*55) g.48018085del - MSH6(NM_000179.2):c.280delG (p.D94Ifs*55) - MSH6_001005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.280G>T VUS r.(?) p.(Asp94Tyr) g.48018085G>T - MSH6(NM_000179.2):c.280G>T (p.Asp94Tyr) - MSH6_001006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.290G>A pathogenic r.(?) p.(Trp97*) g.48018095G>A - MSH6(NM_000179.2):c.290G>A (p.(Trp97*)) - chr2_014309 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., ?/? 3 2 c.297G>T VUS r.(?) p.(Lys99Asn) g.48018102G>T - - - MSH6_000024 Insight class: 3 PubMed: Plaschke 2004 - - Germline, SUMMARY record - - - - - Beate Dr. Betz, InSiGHT - John-Paul Plazzer, Michael Woods
+/., ?/. 2 2 c.305del pathogenic, VUS r.(?) p.(Gly102Valfs*47) g.48018110del - 305delG - MSH6_000124 Not classified DUPLICATE – to be removed - - Germline, SUMMARY record - - - - - Thomas Hansen, InSiGHT - John-Paul Plazzer
-?/., ?/. 2 2 c.312C>T likely benign, VUS r.(=) p.(=) g.48018117C>T - 312C>T - MSH6_000125 Not classified DUPLICATE – to be removed - - Germline, SUMMARY record - - - - - Thomas Hansen, InSiGHT - John-Paul Plazzer
+/. 1 - c.315del pathogenic r.(?) p.Trp105Cysfs*44 g.48018120del - disruptive variant - MSH6_001007 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - Stephanie Baert-Desurmont
?/. 2 2 c.325C>G VUS r.(?) p.(Leu109Val) g.48018130C>G - p.[Leu109Val]+[Leu109Val] - MSH6_000921 identified in a glioblastoma multiforme tumour sample DUPLICATE – to be removed, PubMed: Maxwell 2008 - - SUMMARY record, Somatic - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
?/. 1 - c.335A>G VUS r.(?) p.(Asn112Ser) g.48018140A>G g.47791001A>G - - MSH6_001008 PolyPhen-2 HumVar (PSIC: 0,61) possibly damaging - - - Germline - - - - - Andreas Laner
?/., +/. 2 2 c.356_359del VUS, pathogenic r.(?) p.(Phe119Serfs*29) g.48018161_48018164del - 356_359delTCAT - MSH6_000098 Submitted by ICCon – South Australia DUPLICATE – to be removed - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, ICCon
?/., ?/? 2 2 c.362G>A VUS r.(?) p.(Arg121His) g.48018167G>A - - - MSH6_000020 Moderately conserved, in Dom?ñne, bioinf. not consistent., Insight class: 3 - - - Germline, SUMMARY record - - - - - Elke Holinski-Feder, InSiGHT - John-Paul Plazzer
?/?, ?/. 2 2 c.363C>T VUS r.(=) p.(=) g.48018168C>T - Submitter described this as p.Arg121Arg. - MSH6_000630 Insight class: 3 - - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Elke Holinski-Feder
?/?, ?/. 4 2 c.383G>T VUS r.(?) p.(Arg128Leu) g.48018188G>T - - - MSH6_000555 Insight class: 3 PubMed: Hampel 2006, PubMed: Kariola 2004 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, Amanda Spurdle
?/. 2 2 c.384del VUS r.(?) p.(Val129Phefs*20) g.48018189del - - - MSH6_000557 somatic DUPLICATE – to be removed, PubMed: Miyaki 1997 - - SUMMARY record, Somatic - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
?/. 1 - c.392T>C VUS r.(?) p.(Val131Ala) g.48018197T>C - MSH6(NM_000179.2):c.392T>C (p.(Val131Ala)) - MSH6_001009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/., ?/. 2 2 c.394C>T pathogenic, VUS r.(?) p.(Gln132*) g.48018199C>T - - - MSH6_000922 - DUPLICATE – to be removed - - Germline, SUMMARY record - - - - - InSiGHT - John-Paul Plazzer
?/?, ?/. 2 2 c.395A>C VUS r.(?) p.(Gln132Pro) g.48018200A>C - - - MSH6_000333 Insight class: 3 - - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Carli Tops
+/., ?/?, +?/. 3 2 c.402dup pathogenic, VUS, likely pathogenic r.(?) p.(Asp135*) g.48018207dup - MSH6(NM_000179.2):c.402dupT (p.D135*), 396insT; p.F133fs - MSH6_000048 VKGL data sharing initiative Nederland, Insight class: 3 - - - CLASSIFICATION record, SUMMARY record, Germline - - - - - VKGL-NL, InSiGHT - John-Paul Plazzer, Barbara Luisa Soares
?/., +/. 2 2 c.425G>A VUS, pathogenic r.(?) p.(Trp142*) g.48018230G>A - - - MSH6_000104 Submitted by ICCon – South Australia DUPLICATE – to be removed - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, ICCon
+/+, +/. 4 2 c.426G>A pathogenic r.(?) p.(Trp142*) g.48018231G>A - - - MSH6_000588 Insight class: 5 PubMed: Plaschke 2004, PubMed: Plaschke 2004, PubMed: Steinke 2008 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
?/., -?/., -/., -/- 34 2 c.431G>T VUS, likely benign, benign r.(?) p.(Ser144Ile) g.48018236G>T - 431G>T, MSH6(NM_000179.2):c.431G>T (p.S144I), S144I, p.Ser144Ile, G >T at 431, 1 more item - MSH6_000923 VKGL data sharing initiative Nederland, deletion exon 3, Insight class: 1, PolyPhen possibly damaging, 8 more items Gabriel Capell?í and Ignacio Blanco, {PMID:Nilbert Fam Cancer. 2009;8(1):75-83.:18566915}, 18 more items - - Germline, CLASSIFICATION record, SUMMARY record, In vitro (cloned), In silico - - - - - INSiGHT group, VKGL-NL_Groningen, Thomas Hansen, VKGL-NL_VUmc, Juul Wijnen, InSiGHT - John-Paul Plazzer, Rolf Sijmons, VKGL-NL_Nijmegen, Michael Woods, VKGL-NL_AMC, Elke Holinski-Feder, Felipe Silva
?/., ?/? 5 2 c.440T>A VUS r.(?) p.(Leu147His) g.48018245T>A - c440T>A P149Leu>His, Authors describe this as 440T>A p.Leu149His., 1 more item - MSH6_000589 Insight class: 3 PubMed: Jin 2007, PubMed: Jin 2008, PubMed: Ni 2008 - - Germline, Unknown, SUMMARY record - - - - - Michael Woods, InSiGHT - John-Paul Plazzer
?/. 1 - c.442_443del VUS r.(?) p.(Leu148Lysfs*23) g.48018247_48018248del - MSH6(NM_000179.2):c.440_441del (p.(Leu148LysfsTer23), p.(=)) - MSH6_001010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 2i c.457+2dupT VUS r.spl? p.? g.48018264dup - - - MSH6_000054 - DUPLICATE – to be removed - - Unknown, SUMMARY record - - - - - Sira Moreno, InSiGHT - John-Paul Plazzer
+/., +/+ 3 2i c.457+2T>A pathogenic r.spl? p.? g.48018264T>A - 456+2T>A - MSH6_000029 Insight class: 5 J Suchy (unpublished) 2006, PubMed: Suchy 2006 - - Germline, SUMMARY record - - - - - INSiGHT group, Michael Woods, InSiGHT - John-Paul Plazzer
?/., -/., -?/., -?/-? 27 2i c.457+13A>G VUS, benign, likely benign r.(=) p.(=) g.48018275A>G - 457+13A>G, MSH6(NM_000179.2):c.457+13A>G (p.=), p.? - MSH6_000030 VKGL data sharing initiative Nederland, Insight class: 2 PubMed: Kolodner 1999, PubMed: Peterlongo 2003, PubMed: Woods 2005, Mark Jenkins; John Hopper, 2 more items - - Germline, CLASSIFICATION record, SUMMARY record - - - - - INSiGHT group, Michael Woods, VKGL-NL_VUmc, Thomas Hansen, Ruth Armstrong, VKGL-NL_Groningen, InSiGHT - John-Paul Plazzer, Amie Blanco, VKGL-NL_AMC, VKGL-NL_Leiden, VKGL-NL_NKI, VKGL-NL_Rotterdam, Jack Ji, VKGL-NL_Nijmegen
?/., ?/? 2 2i c.457+14C>G VUS r.(=) p.(=) g.48018276C>G - - - MSH6_000593 Insight class: 3 PubMed: Parc 2000 - - Germline, SUMMARY record - - - - - Michael Woods, InSiGHT - John-Paul Plazzer
?/. 1 2i c.457+30del VUS r.(?) p.(=) g.48018292del - 457+30delT - MSH6_001011 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - Angela Solano & F Cardoso
?/. 1 2i c.457+32del VUS r.(?) p.? g.48018294del - 457+32del - MSH6_000924 1 more item PubMed: Rossi 2017 - - Germline - - - - - Mev Dominguez Valentin
+/. 1 - c.457+33_457+34insGTGT pathogenic r.(=) p.(=) g.48018295_48018296insGTGT - 457+33_+34insGTGT - MSH6_000925 - PubMed: Liccardo - - Germline yes - - - - Matthew Daly
-/. 1 - c.457+51_457+52insAGTG benign r.(=) p.(=) g.48018313_48018314insAGTG - MSH6(NM_000179.2):c.457+51_457+52insAGTG - chr2_014310 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -/., -/- 42 2i c.457+52T>A VUS, benign r.(=), r.(?) p.(=) g.48018314T>A - t>a at 457+52, MSH6(NM_000179.2):c.457+52T>A (p.?) - MSH6_000032 VKGL data sharing initiative Nederland, Insight class: 1 PubMed: Plaschke 2000, PubMed: Peterlongo 2003, contributed by Dept. of Dr Vaccaro - - Germline, CLASSIFICATION record, SUMMARY record - - - - - Peter Propping, Prof. Dr. med., INSiGHT group, Michael Woods, VKGL-NL_Nijmegen, Angela Solano & F Cardoso, InSiGHT - John-Paul Plazzer, VKGL-NL_Rotterdam
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