Unique variants in gene PMS2


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 We encourage submission of relevant unpublished information to assist in the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_000535.5 transcript reference sequence.

454 entries on 5 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 5i_6i c.(537+1_538-1)_(705+1_706-1) pathogenic r.? p? g.(6037055_6038738)_(6038907_6042083)del - - - PMS2_000293 - - - - Germline - - - - - José Luis Soto
?/. 1 11 c.1875A>Y VUS r.(?) p.(Leu625Phe) g.6026521T>R - Leu625Phe - PMS2_000227 Idenitified in MCF-10F breast epithelial transform cells. PubMed: Balogh 2003 - - Somatic - - - - - Michael Woods
+/. 2 11 g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] pathogenic r.? p.? g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] - - - PMS2_000326 - - - - Unknown - - - - - Julia Vogt
+?/. 1 1-10 c.(?_-30100)_(144+1_145-1)del ACMG: 4 r.(?) p.(?) g.(?) - - - EZH2_000001 Deletion PMS2 E1-E10; NG_008466.1(NM_000535.5):c.(?_-30100)_(144+1_145-1)del - - - Germline ? - - - - Andreas Laner
-/-, ?/. 2 _1 c.-2559T>A benign, VUS r.(?), r.(=) p.(=) g.6051209A>T g.6011578A>T - - PMS2_000158 Insight class: 1, -2472 from transcription start site PubMed: Jeske 2008 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
-/-, ?/. 2 _1 c.-2146C>A benign, VUS r.(?), r.(=) p.(=) g.6050796G>T g.6011165G>T - - PMS2_000136 Insight class: 1, -2059 from the transcription start site PubMed: Jeske 2008 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
?/?, ?/. 2 _1 c.-963A>G VUS r.(?) p.(=) g.6049613T>C g.6009982T>C - - PMS2_000199 Insight class: 3, 1 more item PubMed: Jeske 2008 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
?/?, ?/. 2 _1 c.-340G>T VUS r.(?) p.(=) g.6048990C>A g.6009359C>A - - PMS2_000001 Insight class: 3 PubMed: Hendriks 2006 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Juul Wijnen
-/-, ?/. 2 _1 c.-323G>T benign, VUS r.(?), r.(=) p.(=) g.6048973C>A g.6009342C>A - - PMS2_000002 Insight class: 1 PubMed: Hendriks 2006 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Juul Wijnen
-/-, ?/. 3 _1 c.-195T>C benign, VUS r.(?), r.(=) p.(=) g.6048845A>G g.6009214A>G - - PMS2_000003 Insight class: 1 PubMed: Hendriks 2006, PubMed: Thompson 2004 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Juul Wijnen, Michael Woods
-/., -/-, ?/. 7 1, _1 c.-154C>G benign, VUS r.(?), r.(=) p.(=) g.6048804G>C g.6009173G>C - - PMS2_000004 Insight class: 1 contributed by Dept. of Dr Vaccaro, PubMed: Hendriks 2006, PubMed: Thompson 2004 - - Germline, SUMMARY record - - - - - Angela Solano & F Cardoso, InSiGHT - John-Paul Plazzer, Juul Wijnen, Michael Woods
?/. 1 _1 c.-120del VUS r.(?) p.(=) g.6048770del - - - PMS2_000052 - PubMed: Miyaki 1997 - - Somatic - - - - - Michael Woods
?/?, ?/. 2 _1 c.-101A>G VUS r.(?) p.(=) g.6048751T>C g.6009120T>C - - PMS2_000005 Insight class: 3 PubMed: Hendriks 2006 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Juul Wijnen
-/-, -?/. 2 _1 c.-93G>A benign, likely benign r.(?), r.(=) p.(=) g.6048743C>T g.6009112C>T - - PMS2_000241 Insight class: 1, allele is trancsribed - - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Carli Tops
-/. 1 1 c.-93G>C benign r.(?) p.(=) g.6048743C>G - - - PMS2_000448 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - Angela Solano & F Cardoso
+/+, +/. 2 1i_2i, 1 c.(?_-87)_(23+1_24-1)del pathogenic r.0?, r.(?) p.0?, p.? g.(6045663_6048627)_(6048737_?)del - Deletion of Exon 1 - PMS2_000044 Insight class: 5 PubMed: Senter 2008 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
+/+, +/. 3 _1_10i c.(?_-87)_(1144+1_1145-1)del pathogenic r.0?, r.(?) p.0?, p.? g.(6027252_6029430)_(6048737_?)del - del ex01-10, ex01_ex10del - PMS2_000179 Insight class: 5 - - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Peter Propping, Prof. Dr. med., Beate Dr. Betz
+/. 1 _1_12i c.(?_-87)_(2174+1_2175-1)del pathogenic r.? p.? g.(6018328_6022454)_(6048737_?)del - c.-87-?_2174+?del/Del exon 1-12 - PMS2_000366 - - - - Germline - - - - - Thomas Hansen
+/. 1 _1_14i c.(?_-87)_(2445+1_2446-1)del pathogenic r.? p.? g.(6013174_6017218)_(6048737_?)del - c.-87-?_2445+?del /Deletion af exon 1-14 - PMS2_000367 - - - - Germline - - - - - Thomas Hansen
+/+, +/. 10 _1_15_ c.(?_-87)_(*160_?)del pathogenic r.0?, r.(?), r.? p.0?, p.? g.(?_6012870)_(6048737_?)del - del ex1_15, Deletion of Exon 1-15, Deletion of PMS2, del ex 1-15, dupPMS2CL, PMS2 exon 1-15 del, 3 more items - PMS2_000007 Insight class: 5 PubMed: van der Klift 2005, PubMed: Hendriks 2006, PubMed: Senter 2008; PubMed: Tomsic 2012, 6 more items - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Juul Wijnen, Michael Woods, Carli Tops, Mark Jenkins, INSiGHT group, Kristina Lagerstedt Robinson
?/. 1 1 c.-77del VUS r.? p.? g.6048727del - - - PMS2_000374 - - - - Unknown - - - - - Barbara Luisa Soares
?/. 1 1 c.-53G>A VUS r.(=) p.(=) g.6048703C>T - c.-53G>A - PMS2_000375 - - - - Germline - - - - - Thomas Hansen
-?/. 1 - c.-7T>C likely benign r.(?) p.(=) g.6048657A>G - PMS2(NM_000535.5):c.-7T>C (p.(=)) - PMS2_000425 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/., ?/., +?/., +/+? 12 1 c.1A>G pathogenic, VUS, likely pathogenic, 4 r.?, r.(?) p.0?, p.?, p.Met1Val g.6048650T>C g.6009019T>C c.1A>G, PMS2(NM_000535.5):c.1A>G (p.Met1Val) - PMS2_000256 ICCON data, Westmead, NSW, VKGL data sharing initiative Nederland, Insight class: 4 PubMed: Senter 2008, PubMed: Borras 2013, Mark Jenkins; John Hopper, Mark Jenkins; John Hopper, 1 more item - - Germline, CLASSIFICATION record, Germline/De novo (untested) - - - - - InSiGHT - John-Paul Plazzer, Arjen Mensenkamp, Thomas Hansen, VKGL-NL, Michael Woods, Gabriel Capella, INSiGHT group, Ian Berry, Grigorij Yanus
+?/+?, ?/., +?/. 5 1 c.2T>A ACMG: 4, VUS, likely pathogenic r.?, r.(?) p.?, p.0?, p.Met1? g.6048649A>T - PMS2(NM_000535.5):c.2T>A (p.M1?) - PMS2_000017 VKGL data sharing initiative Nederland, 2 more items PubMed: Haraldsdottir 2018 - rs587780059 Germline, CLASSIFICATION record ? - - - - Andreas Laner, Sigurdis Haraldsdottir, VKGL-NL
+/. 1 1 c.3G>A pathogenic r.0? p.0? g.6048648C>T g.6009017C>T - - PMS2_000388 - - - - Germline - - - - - Andreas Laner
?/. 1 1 c.11C>G VUS r.(?) p.(Ala4Gly) g.6048640G>C - - - PMS2_000018 Carrier frequency in Iceland (%): 0.04; Odds ratio for CRC (95%CI): 2.64 (0.62-11.2) PubMed: Haraldsdottir 2018 - - Germline - 0.04 - - - Sigurdis Haraldsdottir
-?/. 1 - c.21G>C likely benign r.(?) p.(=) g.6048630C>G - PMS2(NM_000535.5):c.21G>C (p.=) - PMS2_000424 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 7 1i c.23+10G>C likely benign, benign r.(=) p.(=) g.6048618C>G - PMS2(NM_000535.5):c.23+10G>C (p.(=)), c.23+10G>C - PMS2_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Utrecht, Thomas Hansen, VKGL-NL_Leiden, VKGL-NL_AMC, VKGL-NL_NKI, VKGL-NL_VUmc, VKGL-NL_Groningen
-/. 1 1i c.23+12T>C benign r.(=) p.(=) g.6048616A>G g.6008985A>G - - PMS2_000387 - - - - Germline - - - - - Andreas Laner
?/., -/. 11 1i c.23+72C>T VUS, benign r.(?), r.(=) p.(=), p.? g.6048556G>A - PMS2(NM_000535.5):c.23+72C>T, c.23+72C>T - PMS2_000423 VKGL data sharing initiative Nederland, 1 more item contributed by Dept. of Dr Vaccaro, InSiGHT, PubMed: Rossi 2017 - - Germline, CLASSIFICATION record - - - - - Angela Solano & F Cardoso, VKGL-NL, Mev Dominguez Valentin
+/. 9 1i_2 c.24-12_107delinsAAAT pathogenic r.?, r.24_163del, r.(?) p.?, p.Ser8Argfs*5, p.?/(p.Ser8ArgfsX5) g.6045579_6045674delinsATTT - c.24-12_107delinsAAAT, PMS2:c.24-12_107delinsAAAT - PMS2_000205 ICCON data, Westmead, NSW, 96bp deletion across intron1-exon2 border, 1 more item PubMed: van der Klift 2010, Carli Tops, Carli Tops, Carli Tops, Carli Tops, Carli Tops, Fiona Lalloo - - Germline - - - - - InSiGHT - John-Paul Plazzer, Carli Tops, INSiGHT group
+/. 4 - c.24-?_988+?del pathogenic r.(?) p.? g.6031604_6045662del - Deletion exons 2–9 - PMS2_000457 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - Kristina Lagerstedt Robinson
+/+, +/. 2 1i_2i c.(23+1_24-1)_(163+1_164-1)del pathogenic r.?, r.(?) p.(Ser8Argfs*5) g.(6043690_6045522)_(6045663_6048627)del - Deletion of Exon 2 - PMS2_000148 Insight class: 5 PubMed: Senter 2008 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
-?/. 1 - c.31C>G likely benign r.(?) p.(Pro11Ala) g.6045655G>C - PMS2(NM_000535.5):c.31C>G (p.Pro11Ala) - AIMP2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., ?/., -/., -?/-? 23 2 c.52A>G likely benign, VUS, benign r.(?), r.? p.(Ile18Val), p.Ile18Val g.6045634T>C g.6006003T>C PMS2(NM_000535.5):c.52A>G (p.I18V), c.52A>G, 780G>C (Ser260Ser), 780G>C, 2 more items - PMS2_000009 VKGL data sharing initiative Nederland, Insight class: 2, based on population freq, 3 more items PubMed: Haraldsdottir 2018, PubMed: Hendriks 2006, PubMed: Clendenning 2006, Mark Jenkins; John Hopper, 3 more items - - CLASSIFICATION record, Germline, SUMMARY record, Unknown - 1.73 - - - VKGL-NL_Utrecht, Sigurdis Haraldsdottir, VKGL-NL_Nijmegen, InSiGHT - John-Paul Plazzer, Thomas Hansen, Juul Wijnen, Carli Tops, Michael Woods, INSiGHT group, VKGL-NL_AMC, VKGL-NL_Leiden, VKGL-NL_NKI, VKGL-NL_VUmc, VKGL-NL_Groningen, Jack Ji
?/. 1 2 c.53T>C VUS r.? p.(Ile18Thr) g.6045633A>G - c.53T>C - PMS2_000295 - - - - Germline - - - - - Carli Tops
-?/., -/., -/-, ?/. 50 2 c.59G>A likely benign, benign, VUS r.(?), r.?, r.(=) p.(Arg20Gln), p.Arg20Gln g.6045627C>T g.6005996C>T PMS2(NM_000535.5):c.59G>A (p.R20Q), c.59G>A, G>A at 59, 1621G>A (E541K), p.Arg20Gln, 2 more items - PMS2_000008 VKGL data sharing initiative Nederland, Insight class: 1, 2 more items PubMed: Drost 2013, contributed by Dept. of Dr Vaccaro, PubMed: Hendriks 2006, PubMed: Viel 1998, 4 more items - rs10254120 CLASSIFICATION record, Germline, SUMMARY record, Unknown, In vitro (cloned) - 0.11 - - - VKGL-NL_Utrecht, Jack Ji, VKGL-NL_Rotterdam, InSiGHT - John-Paul Plazzer, INSiGHT group, VKGL-NL_NKI, Thomas Hansen, Angela Solano & F Cardoso, Juul Wijnen, Michael Woods, Gabriel Capella, VKGL-NL_AMC, VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 2 c.59G>C VUS r.(?) p.(Arg20Pro) g.6045627C>G - - - PMS2_000372 - - - - Unknown ? - - - - Sira Moreno
+?/. 1 2 c.60_61dup likely pathogenic r.(?) p.(Lys21Argfs*14) g.6045625_6045626dup g.6005994_6005995dupTC - - PMS2_000386 - - - - Germline - - - - - Gemeinschaftspraxis für Humangenetik Dresden
?/. 3 2 c.86G>C VUS r.(?) p.(Gly29Ala) g.6045600C>G - c.86C>G - PMS2_000370 3 more items InSiGHT Variant Interpretation Committee April 2016 - - Germline - - - - - Elke Holinski-Feder
?/. 1 2 c.122A>C VUS r.? p.(Glu41Ala) g.6045564T>G - c.122A>C - PMS2_000290 1 more item PubMed: Drost 2013 - - Unknown - - - - - INSiGHT group
?/?, ?/. 5 2 c.137G>A VUS r.(?), r.? p.(Ser46Asn) g.6045549C>T g.6005918C>T c.137G>A - PMS2_000060 Insight class: 3, 2 more items PubMed: Drost 2013, PubMed: Jackson 2008, PubMed: Senter 2008, 1 more item - - SUMMARY record, Unknown, Germline - - - - - InSiGHT - John-Paul Plazzer, INSiGHT group, Michael Woods
+/., +?/. 31 2 c.137G>T pathogenic, likely pathogenic r.(?), r.?, r.137g>u p.(Ser46Ile), p.Ser46Ile g.6045549C>A - PMS2(NM_000535.5):c.137G>T (p.Ser46Ile), c.137G>T, 161G>T, 2 more items - PMS2_000061 ICCON data, Royal Prince Alfred/Liverpool, NSW, ICCON data, Westmead, NSW, Gene conversion, 4 more items PubMed: Drost 2013, PubMed: Jackson 2008, PubMed: Senter 2008, PubMed: Clendenning 2006, 12 more items - - Germline, CLASSIFICATION record, Unknown - - - - - InSiGHT - John-Paul Plazzer, VKGL-NL_Rotterdam, ICCon, INSiGHT group, VKGL-NL_Nijmegen, Michael Woods, Carli Tops, Gabriel Capella, Demetra Georgiou, Ian Berry, VKGL-NL_Leiden, Stephanie Baert-Desurmont
?/. 1 2 c.139C>T VUS r.= p.(=) g.6045547G>A - p.(Leu47Leu) - PMS2_000298 patient RNA: no effect on splicing. Minigene: no effect on splicing PubMed: van der Klift 2015 - - Unknown - - - - - Carli Tops
?/. 1 - c.152C>T VUS r.(?) p.(Ala51Val) g.6045534G>A - PMS2(NM_000535.5):c.152C>T (p.A51V) - PMS2_000422 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.154A>C likely benign r.(?) p.(Thr52Pro) g.6045532T>G - PMS2(NM_000535.5):c.154A>C (p.Thr52Pro) - PMS2_000442 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/., +?/+? 4 2i c.163+2T>C pathogenic, likely pathogenic r.spl?, r.24_163del p.?, p.Ser8Argfs*5 g.6045521A>G g.6005890A>G PMS2(NM_000535.5):c.163+2T>C (p.?) - PMS2_000206 VKGL data sharing initiative Nederland, Insight class: 4, 1 more item PubMed: van der Klift 2010, PubMed: van der Klift 2015 - - CLASSIFICATION record, SUMMARY record, Germline - - - - - VKGL-NL_Nijmegen, InSiGHT - John-Paul Plazzer, Carli Tops, VKGL-NL_Rotterdam
+/. 1 2i c.163+5G>A pathogenic r.spl? p.? g.6045518C>T - c.163+5G>A - PMS2_000341 - - - - Germline - - - - - Thomas Hansen
+/+, +/. 7 2i_7i c.164-518_803+252delinsCG pathogenic r.164_803del, r.(?) p.? g.6036705_6044207delinsCG g.5997074_6004576delinsCG c.164-518_803+252del7501insCG, del ex 3-7 - PMS2_000208 Insight class: 5, del ex 3-7 Carli Tops, Carli Tops, Carli Tops, Carli Tops, Carli Tops, PubMed: van der Klift 2010 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, INSiGHT group, Carli Tops
?/., -/. 16 2i c.164-108G>C VUS, benign r.(=) p.(=) g.6043797C>G - PMS2(NM_000535.5):c.164-108G>C - PMS2_000336 VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record - - - - - Jack Ji, VKGL-NL
+?/+?, +?/. 2 2i c.164-2A>G likely pathogenic r.164_171del p.Asp55Alafs*2 g.6043691T>C g.6004060T>C c.[164-2A>G;384G>A] - PMS2_000244 Insight class: 4 PubMed: Borras 2013 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Gabriel Capella
+?/. 1 - c.164-1G>A likely pathogenic r.(?) p.? g.6043690C>T - - - PMS2_000466 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - Stephanie Baert-Desurmont
?/. 3 2i_7i c.(163+1_164-1)_(803+1_804-1)del VUS r.(?) p.? g.(6035265_6036956)_(6043690_6045522)del - del ex 3-7 - PMS2_000266 del ex 3-7 Carli Tops, Carli Tops, Carli Tops - - Germline - - - - - INSiGHT group
-?/. 1 - c.166C>G likely benign r.(?) p.(Leu56Val) g.6043687G>C - PMS2(NM_000535.5):c.166C>G (p.L56V) - PMS2_000421 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.178G>A likely benign r.(?) p.(Asp60Asn) g.6043675C>T - PMS2(NM_000535.5):c.178G>A (p.D60N) - PMS2_000420 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/-?, ?/., -?/. 8 3 c.180C>G likely benign, VUS r.(?), r.?, r.180C>G p.(Asp60Glu), p.Asp60Glu g.6043673G>C g.6004042G>C c.180C>G - PMS2_000239 Insight class: 2, Minigene: no aberrant splicing. No patient RNA available., 1 more item PubMed: Drost 2013, PubMed: van der Klift 2015, Mark Jenkins; John Hopper, Mark Jenkins; John Hopper - - SUMMARY record, Unknown, Germline - - - - - InSiGHT - John-Paul Plazzer, INSiGHT group, Thomas Hansen, Carli Tops, Andreas Laner
+/+, +/. 4 3 c.182del pathogenic r.(?) p.(Tyr61Leufs*15) g.6043671del g.6004040del - - PMS2_000122 Insight class: 5, signs of NF1, signs of NF2 PubMed: Etzler 2008 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
?/. 1 3 c.197T>C VUS r.197u>c p.Ile66Thr g.6043656A>G - - - PMS2_000319 patient RNA : no allelic imballance van der Klift in prep - - Unknown - - - - - Carli Tops
?/., +/. 2 3 c.211_214del VUS, pathogenic r.(?), r.? p.(Asn71Aspfs*4) g.6043639_6043642del - - - PMS2_000312 Found in 1 patient PubMed: Haraldsdottir 2018 - - Germline, Unknown - - - - - Sigurdis Haraldsdottir, Hans Gille
?/. 1 3 c.215G>A VUS r.(?) p.(Gly72Glu) g.6043638C>T - - - PMS2_000376 - PubMed: Pearlman 2017 - - Germline - - - - - InSiGHT - John-Paul Plazzer
+/+, +/. 13 3 c.219_220dup pathogenic r.0, r.(?) p.(Gly74Valfs*3), p.Gly74ValfsX3, p.? g.6043633_6043634dup g.6004002_6004003dup c.219_220dup, PMS2:c.219_220dup - PMS2_000176 Insight class: 5 PubMed: van der Klift 2010, Carli Tops, Carli Tops, Carli Tops, Carli Tops, Carli Tops, Carli Tops, 5 more items - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Carli Tops, INSiGHT group
-?/. 1 3 c.240C>T likely benign r.(=) p.(=) g.6043613G>A - c.240C>T - PMS2_000342 - - - - Germline - - - - - Thomas Hansen
+/. 1 3 c.247_250dup pathogenic r.247_250dup p.(Thr84Ilefs*9) g.6043603_6043606dup - - - PMS2_000314 patient RNA: non sense mediated decay van der Klift in prep. - - Unknown - - - - - Carli Tops
?/. 1 3i c.250+24A>G VUS r.(=) p.(=) g.6043579T>C - c.250+24A>G - PMS2_000343 - - - - Germline - - - - - Thomas Hansen
-/. 1 3i c.250+73T>C benign r.(=) p.(=) g.6043530A>G g.6003899A>G - - PMS2_000385 - - - - Germline - - - - - Andreas Laner
-/., -/-, ?/. 5 3i, 2i c.251-72A>G benign, VUS r.(=), r.(?) p.(=) g.6043495T>C g.6003864T>C PMS2(NM_000535.5):c.251-72A>G - PMS2_000012 VKGL data sharing initiative Nederland, Insight class: 1 contributed by Dept. of Dr Vaccaro, PubMed: Hendriks 2006 - - CLASSIFICATION record, Germline, SUMMARY record - - - - - VKGL-NL_Nijmegen, Angela Solano & F Cardoso, InSiGHT - John-Paul Plazzer, Juul Wijnen, VKGL-NL_NKI
?/. 1 3i c.251-33A>G VUS r.(=) p.(=) g.6043456T>C g.6003825T>C - - PMS2_000384 - - - - Germline - - - - - Andreas Laner
-?/., ?/. 4 3i c.251-20T>G likely benign, VUS r.(=) p.(=) g.6043443A>C - PMS2(NM_000535.5):c.251-20T>G, c.251-20T>G - PMS2_000344 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Thomas Hansen, VKGL-NL_Groningen
?/?, ?/. 3 3i c.251-8T>C VUS r.(?) p.(=) g.6043431A>G g.6003800A>G c.251-8T>C - PMS2_000156 Insight class: 3 PubMed: Senter 2008, Mark Jenkins; John Hopper - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods, INSiGHT group
+/. 3 3i c.251-2A>C pathogenic r.spl?, r.? p.? g.6043425T>G - PMS2(NM_000535.5):c.251-2A>C (p.?) - PMS2_000310 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen, Yvonne Vos
+?/+?, +?/. 2 3i c.251-2A>G likely pathogenic r.(spl?) p.? g.6043425T>C g.6003794T>C - - PMS2_000152 Insight class: 4, loss of splice acceptor site PubMed: Senter 2008 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
+/. 3 3i c.251-2A>T pathogenic r.spl?, r.(?) p.? g.6043425T>A - disruptive variant - PMS2_000332 Submitted by ICCon – South Australia PubMed: Baert-Desurmont 2018 - - Germline - - - - - ICCon, Stephanie Baert-Desurmont
-?/., ?/. 3 4 c.255G>A likely benign, VUS r.(=), r.(?) p.(=) g.6043419C>T g.6003788C>T c.255G>A, PMS2(NM_000535.5):c.255G>A (p.(Leu85=)) - PMS2_000345 VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record - - - - - Thomas Hansen, VKGL-NL, Andreas Laner
?/. 1 - c.260A>G VUS r.(?) p.(His87Arg) g.6043414T>C - - - PMS2_000452 - - - - Germline ? - - - - Demetra Georgiou
?/?, ?/. 2 4 c.288C>A VUS r.(?) p.(=) g.6043386G>T g.6003755G>T - - PMS2_000013 Insight class: 3 PubMed: Hendriks 2006 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Juul Wijnen
-/., -/-, ?/. 22 4 c.288C>T benign, VUS r.(=), r.(?) p.Ala96=, p.(=), p.(Ala96=) g.6043386G>A g.6003755G>A PMS2(NM_000535.5):c.288C>T (p.A96=), C>T at 288, A97A - PMS2_000264 VKGL data sharing initiative Nederland, Insight class: 1 contributed by Dept. of Dr Vaccaro, PubMed: Liu 1995, {dbSNP12532895}, PubMed: Thompson 2004 - rs12532895 Germline, CLASSIFICATION record, SUMMARY record - 0.09 - - - Jack Ji, VKGL-NL_Nijmegen, Angela Solano & F Cardoso, InSiGHT - John-Paul Plazzer, VKGL-NL_AMC, VKGL-NL_Groningen, INSiGHT group, Michael Woods
-?/. 1 - c.308C>T likely benign r.(?) p.(Thr103Ile) g.6043366G>A - - - PMS2_000473 - - - - Somatic - - - - - Anne Jansen
?/. 1 4 c.315C>T VUS r.(=) p.(=) g.6043359G>A g.6003728G>A - - PMS2_000383 - - - - Germline - - - - - Andreas Laner
+?/., ?/. 7 4 c.319C>T likely pathogenic, VUS r.(?), r.[319c>u, ?] p.(Arg107Trp), p.? g.6043355G>A - PMS2(NM_000535.5):c.319C>T (p.Arg107Trp) - PMS2_000299 VKGL data sharing initiative Nederland, 1 more item PubMed: van der Klift 2015, 1 more item - - CLASSIFICATION record, Germline/De novo (untested), Germline, Unknown - - - - - VKGL-NL, InSiGHT - John-Paul Plazzer, Carli Tops
?/?, ?/. 2 4 c.320G>A VUS r.(?) p.(Arg107Gln) g.6043354C>T g.6003723C>T - - PMS2_000159 Insight class: 3, 1 more item PubMed: Thompson 2004 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
-?/. 1 - c.321G>A likely benign r.(?) p.(=) g.6043353C>T - PMS2(NM_000535.5):c.321G>A (p.=) - PMS2_000419 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 4 c.325dup pathogenic r.[325dup, 251_303del, 251_353del] p.[Glu109Glyfs*30, Thr84Argfs*37, Leu85Metfs*17] g.6043349dup - - - PMS2_000300 1 more item PubMed: van der Klift 2015 - - Unknown - - - - - Carli Tops
+/. 1 - c.325dupG pathogenic r.(?) p.(Glu109Glyfs*30) g.6043349dupC - - - PMS2_000475 - - - - Somatic - - - - - Anne Jansen
?/?, ?/. 2 4 c.325G>A VUS r.(?) p.(Glu109Lys) g.6043349C>T g.6003718C>T - - PMS2_000160 Insight class: 3, 1 more item PubMed: Thompson 2004 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
?/. 1 4 c.343T>G VUS r.? p.(Cys115Gly) g.6043331A>C - - - PMS2_000315 - van der Klift in prep - - Unknown - - - - - Carli Tops
+/. 1 - c.353G>A pathogenic r.(?) p.(Ser118Asn) g.6043321C>T - PMS2(NM_000535.5):c.353G>A (p.(Leu85fs)) - PMS2_000509 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 4i c.354-71A>G VUS r.(=) p.(=) g.6042338T>C g.6002707T>C - - PMS2_000382 - - - - Germline - - - - - Andreas Laner
?/. 1 4i c.354-34C>G VUS r.(=) p.(=) g.6042301G>C - c.354-34C>G - PMS2_000346 - - - - Germline - - - - - Thomas Hansen
+?/+?, +?/. 2 4i c.354-1G>A likely pathogenic r.spl, r.(?) p.? g.6042268C>T g.6002637C>T c.354-1G>A + c.52A>G - PMS2_000285 Insight class: 4 Mensenkamp and Ligtenberg - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, INSiGHT group
-?/. 2 - c.354C>T likely benign r.(?) p.(=) g.6042267G>A - PMS2(NM_000535.5):c.354C>T (p.S118=) - PMS2_000418 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
+/+, +/. 2 4i_7i c.(353+1_354-1)_(803+1_804-1)del pathogenic r.?, r.(?) p.(Asp119_Tyr268del) g.(6035265_6036956)_(6042268_6043320)del - Deletion of Exon 5-7 - PMS2_000161 Insight class: 5 PubMed: Senter 2008; PubMed: Tomsic 2012 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Michael Woods
+/. 1 4i_12i c.(353+1_354-1)_(2174+1_2175-1)del pathogenic r.(?) p.(Ser118_Ala725delinsArg) g.(6018328_6022454)_(6042268_6043320)del - - - PMS2_000015 ICCON data, Royal Prince Alfred/Liverpool, NSW - - - Germline - - - - - InSiGHT - John-Paul Plazzer
+/+, +/. 2 4i_15_ c.(353+1_354-1)_(*160_?)del pathogenic r.?, r.(?) p.? g.(?_6012870)_(6042268_6043320)del - del ex (3-)5-15 - PMS2_000209 Insight class: 5, exon 3 and 4 not in MLPA - could be in the deletion PubMed: van der Klift 2010 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Carli Tops
-?/-?, ?/. 2 5 c.384G>A likely benign, VUS r.384g>a p.= g.6042237C>T g.6002606C>T c.[164-2A>G;384G>A] - PMS2_000296 Insight class: 2 PubMed: Borras 2013 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Gabriel Capella
?/. 1 - c.386C>T VUS r.(?) p.(Ala129Val) g.6042235G>A - PMS2(NM_000535.5):c.386C>T (p.A129V) - PMS2_000417 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/., +/+ 12 5 c.400C>T pathogenic r.?, r.(?) p.Arg134*, p.(Arg134*) g.6042221G>A g.6002590G>A p.Arg134X, c.400C>T - PMS2_000162 Insight class: 5, 1 more item PubMed: Durno 2005, PubMed: Senter 2008, PubMed: Parsons 1995, PubMed: Nicolaides 1998 , 5 more items - - Germline, SUMMARY record - - - - - Michael Woods, Elke Holinski-Feder, INSiGHT group, InSiGHT - John-Paul Plazzer
?/. 1 5 c.475G>A VUS r.(?) p.(Val159Met) g.6042146C>T - - - PMS2_000019 Carrier frequency in Iceland (%): 0.05; Odds ratio for CRC (95%CI): 0.96 (0.15-6.31) PubMed: Haraldsdottir 2018 - - Germline - 0.05 - - - Sigurdis Haraldsdottir
+/. 1 - c.486delA pathogenic r.(?) p.(Leu162Phefs*39) g.6042135delT - - - PMS2_000474 - - - - Somatic - - - - - Anne Jansen
+?/. 1 - c.497T>C likely pathogenic r.(?) p.(Leu166Pro) g.6042124A>G - PMS2(NM_000535.5):c.497T>C (p.(Leu166Pro)) - PMS2_000508 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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