Unique variants in the PMS2 gene


PMS2 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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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_000535.5 transcript reference sequence.

485 entries on 5 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     
+/. 1 5i_6i c.(537+1_538-1)_(705+1_706-1) r.? p? - pathogenic g.(6037055_6038738)_(6038907_6042083)del - - - PMS2_000293 - - - - Germline - - - - - José Luis Soto
?/. 1 11 c.1875A>Y r.(?) p.(Leu625Phe) - VUS g.6026521T>R - Leu625Phe - PMS2_000227 1 more item PubMed: Balogh 2003 - - Somatic - - - - - Michael Woods
+/. 2 11 g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] r.? p.? - pathogenic g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] - - - PMS2_000326 - - - - Unknown - - - - - Julia Vogt
+?/. 1 1-10 c.(?_-30100)_(144+1_145-1)del r.(?) p.(?) ACMG likely pathogenic 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 r.(?), r.(=) p.(=) - benign, VUS 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 r.(?), r.(=) p.(=) - benign, VUS 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 r.(?) p.(=) - VUS 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 r.(?) p.(=) - VUS 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 r.(?), r.(=) p.(=) - benign, VUS 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 r.(?), r.(=) p.(=) - benign, VUS 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
-/., -/-, ?/. 9 1, _1 c.-154C>G r.(?), r.(=) p.(=) - benign, VUS 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, Carlos Vaccaro, InSiGHT - John-Paul Plazzer, Juul Wijnen, Michael Woods
?/. 1 _1 c.-120del r.(?) p.(=) - VUS g.6048773del g.6009142del - - PMS2_000052 - PubMed: Miyaki 1997 - - Somatic - - - - - Michael Woods
?/?, ?/. 2 _1 c.-101A>G r.(?) p.(=) - VUS 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 r.(?), r.(=) p.(=) - benign, likely benign 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 r.(?) p.(=) - benign g.6048743C>G g.6009112C>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 r.0?, r.(?) p.0?, p.? - pathogenic 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 r.0?, r.(?) p.0?, p.? - pathogenic 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 r.? p.? - pathogenic 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 r.? p.? - pathogenic 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 r.0?, r.(?), r.? p.0?, p.? - pathogenic 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 r.(?) p.(=) - VUS g.6048727del g.6009096del - - PMS2_000374 - - - - Unknown - - - - - Barbara Luisa Soares
?/. 1 1 c.-53G>A r.(=) p.(=) - VUS g.6048703C>T g.6009072C>T c.-53G>A - PMS2_000375 - - - - Germline - - - - - Thomas Hansen
-?/. 1 - c.-43A>G r.(?) p.(=) - likely benign g.6048693T>C g.6009062T>C - - AIMP2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., ?/., +?/., +/+? 12 1 c.1A>G r.(?) p.0?, p.(Met1?), p.Met1Val - pathogenic, VUS, likely pathogenic g.6048650T>C g.6009019T>C c.1A>G - 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_Nijmegen, Michael Woods, Gabriel Capella, INSiGHT group, Ian Berry, Grigorij Yanus
+?/+?, ?/., +?/. 5 1 c.2T>A r.(?) p.(Met1?), p.0?, p.Met1? ACMG likely pathogenic, VUS g.6048649A>T g.6009018A>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_Groningen
+/. 1 1 c.3G>A r.0? p.0? - pathogenic g.6048648C>T g.6009017C>T - - PMS2_000388 - - - - Germline - - - - - Andreas Laner
?/. 1 1 c.11C>G r.(?) p.(Ala4Gly) - VUS g.6048640G>C g.6009009G>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 r.(?) p.(Ser7=) - likely benign g.6048630C>G g.6008999C>G PMS2(NM_000535.5):c.21G>C (p.S7=) - PMS2_000424 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., -/. 7 1i c.23+10G>C r.(=) p.(=) - likely benign, benign g.6048618C>G g.6008987C>G PMS2(NM_000535.5):c.23+10G>C, c.23+10G>C - PMS2_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Utrecht, Thomas Hansen, VKGL-NL_Nijmegen, VKGL-NL_AMC, VKGL-NL_NKI, VKGL-NL_VUmc, VKGL-NL_Groningen
-/. 1 1i c.23+12T>C r.(=) p.(=) - benign g.6048616A>G g.6008985A>G - - PMS2_000387 - - - - Germline - - - - - Andreas Laner
-?/. 1 - c.23+46C>T r.(=) p.(=) - likely benign g.6048582G>A g.6008951G>A PMS2(NM_000535.5):c.23+46C>T - AIMP2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
-/., ?/. 13 1i c.23+72C>T r.(?), r.(=) p.(=) - benign, VUS g.6048556G>A g.6008925G>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 - - - - - Carlos Vaccaro, Angela Solano & F Cardoso, VKGL-NL_NKI, Mev Dominguez Valentin
+/. 9 1i_2 c.24-12_107delinsAAAT r.spl?, r.24_163del, r.(?) p.?, p.Ser8Argfs*5, p.?/(p.Ser8ArgfsX5) - pathogenic g.6045579_6045674delinsATTT g.6005948_6006043delinsATTT 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 r.(?) p.? - pathogenic g.6031604_6045662del - Deletion exons 2–9 - PMS2_000457 1 more item PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - Kristina Lagerstedt Robinson
+/+, +/. 2 1i_2i c.(23+1_24-1)_(163+1_164-1)del r.?, r.(?) p.(Ser8Argfs*5) - pathogenic 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 r.(?) p.(Pro11Ala) - likely benign g.6045655G>C g.6006024G>C - - AIMP2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.33T>A r.(?) p.(Pro11=) - likely benign g.6045653A>T - - - AIMP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/., -/., -?/-? 23 2 c.52A>G r.(?) p.(Ile18Val), p.Ile18Val - likely benign, VUS, benign g.6045634T>C g.6006003T>C PMS2(NM_000535.5):c.52A>G (p.I18V, p.(Ile18Val)), 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
-?/., ?/. 2 2 c.53T>C r.(?) p.(Ile18Thr) - likely benign, VUS g.6045633A>G g.6006002A>G PMS2(NM_000535.5):c.53T>C (p.I18T), c.53T>C - PMS2_000295 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, Carli Tops
-?/., -/., -/-, ?/. 50 2 c.59G>A r.(?), r.(=) p.(Arg20Gln), p.Arg20Gln - likely benign, benign, VUS, NA 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 r.(?) p.(Arg20Pro) - VUS g.6045627C>G g.6005996C>G - - PMS2_000372 - - - - Unknown ? - - - - Sira Moreno
+?/. 1 2 c.60_61dup r.(?) p.(Lys21Argfs*14) - likely pathogenic g.6045625_6045626dup g.6005994_6005995dup - - PMS2_000386 - - - - Germline - - - - - Gemeinschaftspraxis für Humangenetik Dresden
?/. 3 2 c.86G>C r.(?) p.(Gly29Ala) - VUS g.6045600C>G g.6005969C>G c.86C>G - PMS2_000370 3 more items InSiGHT Variant Interpretation Committee April 2016 - - Germline - - - - - Elke Holinski-Feder
?/. 1 2 c.122A>C r.(?) p.(Glu41Ala) - VUS g.6045564T>G g.6005933T>G c.122A>C - PMS2_000290 1 more item PubMed: Drost 2013 - - Unknown - - - - - INSiGHT group
?/?, ?/. 5 2 c.137G>A r.(?) p.(Ser46Asn) - VUS 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
+/., +?/. 33 2 c.137G>T r.(?), r.137g>u p.(Ser46Ile), p.Ser46Ile ACMG pathogenic, likely pathogenic g.6045549C>A g.6005918C>A PMS2(NM_000535.5):c.137G>T (p.S46I, p.(Ser46Ile)), PMS2(NM_001322014.1):c.137G>T (p.S46I), 4 more items - PMS2_000061 ICCON data, Royal Prince Alfred/Liverpool, NSW, ICCON data, Westmead, NSW, Gene conversion, 5 more items PubMed: Drost 2013, PubMed: Jackson 2008, PubMed: Senter 2008, PubMed: Clendenning 2006, 12 more items - rs121434629 Germline, CLASSIFICATION record, Unknown - - - - - InSiGHT - John-Paul Plazzer, VKGL-NL_Rotterdam, ICCon, INSiGHT group, VKGL-NL_AMC, VKGL-NL_Nijmegen, Michael Woods, Andreas Laner, Carli Tops, Gabriel Capella, Demetra Georgiou, Ian Berry, VKGL-NL_Leiden, Stephanie Baert-Desurmont
?/. 1 2 c.139C>T r.= p.(=) - VUS g.6045547G>A g.6005916G>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 r.(?) p.(Ala51Val) - VUS g.6045534G>A g.6005903G>A PMS2(NM_000535.5):c.152C>T (p.A51V) - PMS2_000422 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.154A>C r.(?) p.(Thr52Pro) - likely benign g.6045532T>G g.6005901T>G - - PMS2_000442 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.163+1G>A r.spl? p.? - pathogenic g.6045522C>T - - - AIMP2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/+? 4 2i c.163+2T>C r.spl?, r.24_163del p.?, p.Ser8Argfs*5 - pathogenic, likely pathogenic g.6045521A>G g.6005890A>G PMS2(NM_000535.5):c.163+2T>C - 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 - c.163+4A>G r.spl? p.? - likely pathogenic g.6045519T>C g.6005888T>C - - AIMP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 2i c.163+5G>A r.spl? p.? - pathogenic g.6045518C>T g.6005887C>T c.163+5G>A - PMS2_000341 - - - - Germline - - - - - Thomas Hansen
?/. 1 - c.163+5G>C r.(?) p.(?) ACMG VUS g.6045518C>G g.6005887C>G - - PMS2_000534 1 more item - - - Germline - - - - - Andreas Laner
+/+, +/. 7 2i_7i c.164-518_803+252delinsCG r.164_803del, r.(?) p.? - pathogenic 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 r.(=) p.(=) - VUS, benign g.6043797C>G g.6004166C>G PMS2(NM_000535.5):c.164-108G>C - PMS2_000336 VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record - - - - - Jack Ji, VKGL-NL_NKI
+?/., +?/+? 3 2i c.164-2A>G r.spl?, r.164_171del p.?, p.Asp55Alafs*2 - likely pathogenic g.6043691T>C g.6004060T>C c.[164-2A>G;384G>A] - PMS2_000244 1 heterozygous, no homozygous; Clinindb (India), Insight class: 4 PubMed: Narang 2020, Journal: Narang 2020, PubMed: Borras 2013 - rs587779324 Germline, SUMMARY record - 1/2795 individuals - - - Mohammed Faruq, InSiGHT - John-Paul Plazzer, Gabriel Capella
+?/. 1 - c.164-1G>A r.(?) p.? - likely pathogenic g.6043690C>T g.6004059C>T - - PMS2_000466 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - Stephanie Baert-Desurmont
?/. 3 2i_7i c.(163+1_164-1)_(803+1_804-1)del r.(?) p.? - VUS 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
-?/. 2 - c.166C>G r.(?) p.(Leu56Val) - likely benign g.6043687G>C g.6004056G>C PMS2(NM_000535.5):c.166C>G (p.L56V) - PMS2_000421 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Groningen
-?/. 1 - c.178G>A r.(?) p.(Asp60Asn) - likely benign g.6043675C>T g.6004044C>T PMS2(NM_000535.5):c.178G>A (p.D60N) - PMS2_000420 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/-?, ?/., -?/. 10 3 c.180C>G r.(?), r.180C>G p.(Asp60Glu), p.Asp60Glu - likely benign, VUS g.6043673G>C g.6004042G>C c.180C>G, PMS2(NM_000535.5):c.180C>G (p.D60E) - PMS2_000239 Insight class: 2, VKGL data sharing initiative Nederland, 2 more items PubMed: Drost 2013, PubMed: van der Klift 2015, Mark Jenkins; John Hopper, Mark Jenkins; John Hopper - - SUMMARY record, Unknown, CLASSIFICATION record, Germline - - - - - InSiGHT - John-Paul Plazzer, INSiGHT group, VKGL-NL_AMC, Thomas Hansen, VKGL-NL_NKI, Carli Tops, Andreas Laner
+/+, +/. 4 3 c.182del r.(?) p.(Tyr61Leufs*15) - pathogenic 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 r.197u>c p.Ile66Thr - VUS g.6043656A>G g.6004025A>G - - PMS2_000319 patient RNA : no allelic imballance van der Klift in prep - - Unknown - - - - - Carli Tops
?/., +/. 2 3 c.211_214del r.(?) p.(Asn71Aspfs*4) - VUS, pathogenic g.6043639_6043642del g.6004008_6004011del - - PMS2_000312 Found in 1 patient PubMed: Haraldsdottir 2018 - - Germline, Unknown - - - - - Sigurdis Haraldsdottir, Hans Gille
?/. 1 3 c.215G>A r.(?) p.(Gly72Glu) - VUS g.6043638C>T g.6004007C>T - - PMS2_000376 - PubMed: Pearlman 2017 - - Germline - - - - - InSiGHT - John-Paul Plazzer
+/+, +/. 13 3 c.219_220dup r.0, r.(?) p.(Gly74Valfs*3), p.Gly74ValfsX3, p.(Gly74ValfsTer3) - pathogenic g.6043635_6043636dup g.6004004_6004005dup 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 r.(=) p.(=) - likely benign g.6043613G>A g.6003982G>A c.240C>T - PMS2_000342 - - - - Germline - - - - - Thomas Hansen
+/. 1 3 c.247_250dup r.247_250dup p.(Thr84Ilefs*9) - pathogenic g.6043603_6043606dup g.6003972_6003975dup - - PMS2_000314 patient RNA: non sense mediated decay van der Klift in prep. - - Unknown - - - - - Carli Tops
?/. 1 3i c.250+24A>G r.(=) p.(=) - VUS g.6043579T>C g.6003948T>C c.250+24A>G - PMS2_000343 - - - - Germline - - - - - Thomas Hansen
-/. 1 3i c.250+73T>C r.(=) p.(=) - benign g.6043530A>G g.6003899A>G - - PMS2_000385 - - - - Germline - - - - - Andreas Laner
-/., -/-, ?/. 6 3i, 2i c.251-72A>G r.(=), r.(?) p.(=) - benign, VUS 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, Carlos Vaccaro, Juul Wijnen, VKGL-NL_NKI
?/. 1 3i c.251-33A>G r.(=) p.(=) - VUS g.6043456T>C g.6003825T>C - - PMS2_000384 - - - - Germline - - - - - Andreas Laner
-?/., ?/. 4 3i c.251-20T>G r.(=) p.(=) - likely benign, VUS g.6043443A>C g.6003812A>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 r.(?) p.(=) - VUS 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 r.spl? p.? - pathogenic g.6043425T>G g.6003794T>G PMS2(NM_000535.5):c.251-2A>C - PMS2_000310 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen, Yvonne Vos
+?/+?, +?/. 2 3i c.251-2A>G r.(spl?) p.? - likely pathogenic 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 r.spl?, r.(?) p.? - pathogenic g.6043425T>A g.6003794T>A disruptive variant - PMS2_000332 Submitted by ICCon – South Australia PubMed: Baert-Desurmont 2018 - - Germline - - - - - ICCon, Stephanie Baert-Desurmont
-?/., ?/. 3 4 c.255G>A r.(=), r.(?) p.(=), p.(Leu85=) - likely benign, VUS g.6043419C>T g.6003788C>T c.255G>A - PMS2_000345 VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record - - - - - Thomas Hansen, VKGL-NL_Nijmegen, Andreas Laner
?/. 1 - c.260A>G r.(?) p.(His87Arg) - VUS g.6043414T>C g.6003783T>C - - PMS2_000452 - - - - Germline ? - - - - Demetra Georgiou
?/?, ?/. 2 4 c.288C>A r.(?) p.(=) - VUS g.6043386G>T g.6003755G>T - - PMS2_000013 Insight class: 3 PubMed: Hendriks 2006 - - SUMMARY record, Germline - - - - - InSiGHT - John-Paul Plazzer, Juul Wijnen
-/., -/-, ?/. 23 4 c.288C>T r.(=), r.(?) p.Ala96=, p.(Ala96=), p.(=) - benign, VUS g.6043386G>A g.6003755G>A PMS2(NM_000535.5):c.288C>T (p.A96=, p.=), 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, VKGL-NL_NKI, Angela Solano & F Cardoso, InSiGHT - John-Paul Plazzer, VKGL-NL_AMC, VKGL-NL_Groningen, INSiGHT group, Michael Woods
-?/. 1 - c.308C>T r.(?) p.(Thr103Ile) - likely benign g.6043366G>A g.6003735G>A - - PMS2_000473 - - - - Somatic - - - - - Anne Jansen
?/. 1 4 c.315C>T r.(=) p.(=) - VUS g.6043359G>A g.6003728G>A - - PMS2_000383 - - - - Germline - - - - - Andreas Laner
+?/., ?/. 7 4 c.319C>T r.(?), r.[319c>u, ?] p.(Arg107Trp) - likely pathogenic, VUS g.6043355G>A g.6003724G>A - - 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_Nijmegen, InSiGHT - John-Paul Plazzer, Carli Tops
?/?, ?/. 2 4 c.320G>A r.(?) p.(Arg107Gln) - VUS 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 r.(?) p.(Arg107=) - likely benign g.6043353C>T g.6003722C>T PMS2(NM_000535.5):c.321G>A (p.R107=) - PMS2_000419 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.325del r.(?) p.(Glu109LysfsTer3) - pathogenic g.6043354del - PMS2(NM_001322014.2):c.325delG (p.E109Kfs*3) - PMS2_000541 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 4 c.325dup r.[325dup, 251_303del, 251_353del], r.(?) p.[Glu109Glyfs*30, Thr84Argfs*37, Leu85Metfs*17], p.(Glu109Glyfs*30) - pathogenic g.6043354dup g.6003723dup - - PMS2_000300, PMS2_000475 1 more item PubMed: van der Klift 2015 - - Unknown, Somatic - - - - - Carli Tops, Anne Jansen
?/?, ?/. 2 4 c.325G>A r.(?) p.(Glu109Lys) - VUS 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 r.(?) p.(Cys115Gly) - VUS g.6043331A>C g.6003700A>C - - PMS2_000315 - van der Klift in prep - - Unknown - - - - - Carli Tops
+/. 1 - c.353G>A r.(?) p.(Ser118Asn) - pathogenic g.6043321C>T g.6003690C>T - - PMS2_000509 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.353+9A>C r.(=) p.(=) - benign g.6043312T>G g.6003681T>G PMS2(NM_000535.5):c.353+9A>C - PMS2_000527 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.353+11A>G r.(=) p.(=) - likely benign g.6043310T>C g.6003679T>C PMS2(NM_000535.5):c.353+11A>G - PMS2_000533 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 4i c.354-71A>G r.(=) p.(=) - VUS g.6042338T>C g.6002707T>C - - PMS2_000382 - - - - Germline - - - - - Andreas Laner
-?/., ?/. 2 4i c.354-34C>G r.(=) p.(=) - likely benign, VUS g.6042301G>C g.6002670G>C PMS2(NM_000535.5):c.354-34C>G, c.354-34C>G - PMS2_000346 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Thomas Hansen
-?/. 1 - c.354-33A>C r.(=) p.(=) - likely benign g.6042300T>G - PMS2(NM_000535.5):c.354-33A>C - PMS2_000540 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
+/., +?/+?, +?/. 3 4i c.354-1G>A r.spl?, r.spl, r.(?) p.? - pathogenic, likely pathogenic g.6042268C>T g.6002637C>T c.354-1G>A + c.52A>G - PMS2_000285 1 heterozygous, no homozygous; Clinindb (India), Insight class: 4 PubMed: Narang 2020, Journal: Narang 2020, Mensenkamp and Ligtenberg - rs786203954 Germline, SUMMARY record - 1/2795 individuals - - - Mohammed Faruq, InSiGHT - John-Paul Plazzer, INSiGHT group
-?/. 2 - c.354C>T r.(?) p.(Ser118=) - likely benign g.6042267G>A g.6002636G>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 r.?, r.(?) p.(Asp119_Tyr268del) - pathogenic 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
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