All 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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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.

33 entries on 1 page. Showing entries 1 - 33.
Legend   How to query  

Effect     

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     
+?/. - c.137G>T r.(?) p.(Ser46Ile) - 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) - PMS2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.137G>T r.(?) p.(Ser46Ile) - 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) - PMS2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 2 c.137G>T r.(?) p.(Ser46Ile) - pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 Submitted by ICCon – South Australia - - - Germline - - - 0 - ICCon
+?/. 2 c.137G>T r.(?) p.(Ser46Ile) - likely pathogenic g.6045549C>A g.6005918C>A c.137G>T - PMS2_000061 In vitro produced variant proteins are added to a LoVo extract and repair of a G·T mismatch on a plasmid is measured. PubMed: Drost 2013 - - Unknown - - - 0 - INSiGHT group
+?/. 2 c.137G>T r.137g>u p.Ser46Ile - likely pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 Identified in a 14 year old boy with T4 sigmoid adenocarcinoma, <10 colonic adenomas and multiple cafe´-au-lait macules. PubMed: Jackson 2008 - - Germline - - - 0 - Michael Woods
+?/. 2 c.137G>T r.137g>u p.Ser46Ile - likely pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 - PubMed: Senter 2008 - - Germline - - - 0 - Michael Woods
+?/. 2 c.137G>T r.137g>u p.Ser46Ile - likely pathogenic g.6045549C>A g.6005918C>A 161G>T - PMS2_000061 - PubMed: Agostini 2005; PubMed: Pastrello 2011 - - Germline - - - 0 - Michael Woods
+?/. 2 c.137G>T r.137g>u p.Ser46Ile - likely pathogenic g.6045549C>A g.6005918C>A 780G>C (S260S), 1621G>A (E541K) - PMS2_000061 - PubMed: Clendenning 2006 - - Germline - - - 0 - Michael Woods
+/. 2 c.137G>T r.137g>u p.Ser46Ile - pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 Gene conversion PubMed: Auclair 2007 - - Germline - - - 0 - Michael Woods
+?/. 2 c.137G>T r.137g>u p.Ser46Ile - likely pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 - PubMed: Nakagawa 2004 - - Germline - - - 0 - Michael Woods
+?/. 2 c.137G>T r.137g>u p.Ser46Ile - likely pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 - PubMed: Agostini 2005; PubMed: Pastrello 2011 - - Germline - - - 0 - Michael Woods
+?/. 2 c.137G>T r.137g>u p.Ser46Ile - likely pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 - PubMed: Jackson 2008 - - Germline - - - 0 - Michael Woods
+?/. 2 c.137G>T r.137g>u p.Ser46Ile - likely pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 - PubMed: Senter 2008; PubMed: Tomsic 2012 - - Germline - - - 0 - Michael Woods
+/. 2 c.137G>T r.137g>u p.Ser46Ile - pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 - PubMed: van der Klift 2010; PubMed: Leenen 2011 - - Germline - - - 0 - Carli Tops
+/. 2 c.137G>T r.137g>u p.Ser46Ile - pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 - PubMed: van der Klift 2010 - - Germline - - - 0 - Carli Tops
+/. 2 c.137G>T r.137g>u p.Ser46Ile - pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 - PubMed: van der Klift 2010 - - Germline - - - 0 - Carli Tops
+/. 2 c.137G>T r.137g>u p.Ser46Ile - pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 - PubMed: van der Klift 2010 - - Germline - - - 0 - Carli Tops
+/. 2 c.137G>T r.137g>u p.Ser46Ile - pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 - PubMed: van der Klift 2010; PubMed: Leenen 2011 - - Germline - - - 0 - Carli Tops
+/. 2 c.137G>T r.137g>u p.Ser46Ile - pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 - - - - Germline - - - 0 - Carli Tops
+?/. 2 c.137G>T r.137g>u p.Ser46Ile - likely pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 - PubMed: Borras 2013 - - Germline - - - 0 - Gabriel Capella
+?/. 2 c.137G>T r.(?) p.(Ser46Ile) - likely pathogenic g.6045549C>A g.6005918C>A c.137G>T - PMS2_000061 - Mark Jenkins; John Hopper - - Germline - - - 0 - INSiGHT group
+?/. 2 c.137G>T r.(?) p.Ser46Ile - likely pathogenic g.6045549C>A g.6005918C>A c.137G>T - PMS2_000061 - Gabriel Capell‡ and Ignacio Blanco - - Germline - - - 0 - INSiGHT group
+?/. 2 c.137G>T r.(?) p.Ser46Ile - likely pathogenic g.6045549C>A g.6005918C>A c.137G>T - PMS2_000061 - Mensenkamp and Ligtenberg - - Germline - - - 0 - INSiGHT group
+?/. 2 c.137G>T r.137g>u p.Ser46Ile - likely pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 Identified in a 14 year old boy with T4 sigmoid adenocarcinoma, <10 colonic adenomas and multiple cafe´-au-lait macules. PubMed: Jackson 2008 - - Germline - - - 0 - Demetra Georgiou
+/. 2 c.137G>T r.137g>u p.Ser46Ile - pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 - Ian Berry, Leeds Genetics Laboratory - - Germline - - - 0 - Ian Berry
+/. - c.137G>T r.(?) p.(Ser46Ile) - pathogenic g.6045549C>A g.6005918C>A missense variants or in frame indels - PMS2_000061 - PubMed: Baert-Desurmont 2018 - - Germline - - - 0 - Stephanie Baert-Desurmont
+/. - c.137G>T r.(?) p.(Ser46Ile) - pathogenic g.6045549C>A g.6005918C>A missense variants or in frame indels - PMS2_000061 - PubMed: Baert-Desurmont 2018 - - Germline - - - 0 - Stephanie Baert-Desurmont
+/. - c.137G>T r.(?) p.(Ser46Ile) - pathogenic g.6045549C>A g.6005918C>A missense variants or in frame indels - PMS2_000061 - PubMed: Baert-Desurmont 2018 - - Germline - - - 0 - Stephanie Baert-Desurmont
+/. 2 c.137G>T r.(?) p.(Ser46Ile) - pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 ICCON data, Royal Prince Alfred/Liverpool, NSW - - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
+/. 2 c.137G>T r.(?) p.(Ser46Ile) - pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 ICCON data, Westmead, NSW - - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
+/. - c.137G>T r.(?) p.(Ser46Ile) - 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) - PMS2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.137G>T r.(?) p.(Ser46Ile) - 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) - PMS2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.137G>T r.(?) p.(Ser46Ile) ACMG pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 ACMG: PS3,PS4,PM3,PP1,PP3,PP4; Endometrial carcinoma at age 53y, MSS and educed expression of MSH6; no cases of cancer in maternal and paternal side - - rs121434629 Germline - - - 0 - Andreas Laner
Legend   How to query