Full data view for gene PMS2


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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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_000535.6 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.137G>T r.(?) p.(Ser46Ile) Unknown - likely pathogenic g.6045549C>A g.6005918C>A PMS2(NM_000535.5):c.137G>T (p.S46I, p.(Ser46Ile)), PMS2(NM_000535.7):c.137G>T (p.S46I) - PMS2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.137G>T r.(?) p.(Ser46Ile) Unknown - pathogenic g.6045549C>A g.6005918C>A PMS2(NM_000535.5):c.137G>T (p.S46I, p.(Ser46Ile)), PMS2(NM_000535.7):c.137G>T (p.S46I) - PMS2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.137G>T r.(?) p.(Ser46Ile) Unknown - pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 Submitted by ICCon – South Australia - - - Germline - - - - - DNA SEQ - - ? - - Submitted by ICCON South Australia - - Australia - - - - - 1 ICCon
+?/. 2 c.137G>T r.(?) p.(Ser46Ile) Unknown - 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 - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+?/. 2 c.137G>T r.137g>u p.Ser46Ile Parent #2 - 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 - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+?/. 2 c.137G>T r.137g>u p.Ser46Ile Parent #2 - likely pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 - PubMed: Senter 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+?/. 2 c.137G>T r.137g>u p.Ser46Ile Parent #1 - likely pathogenic g.6045549C>A g.6005918C>A 161G>T - PMS2_000061 - PubMed: Agostini 2005; PubMed: Pastrello 2011 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+?/. 2 c.137G>T r.137g>u p.Ser46Ile Parent #1 - likely pathogenic g.6045549C>A g.6005918C>A 780G>C (S260S), 1621G>A (E541K) - PMS2_000061 - PubMed: Clendenning 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 2 c.137G>T r.137g>u p.Ser46Ile Parent #1 - pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 Gene conversion PubMed: Auclair 2007 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+?/. 2 c.137G>T r.137g>u p.Ser46Ile Unknown - likely pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 - PubMed: Nakagawa 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+?/. 2 c.137G>T r.137g>u p.Ser46Ile Unknown - likely pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 - PubMed: Agostini 2005; PubMed: Pastrello 2011 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+?/. 2 c.137G>T r.137g>u p.Ser46Ile Unknown - likely pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 - PubMed: Jackson 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+?/. 2 c.137G>T r.137g>u p.Ser46Ile Unknown - likely pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 - PubMed: Senter 2008; PubMed: Tomsic 2012 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 2 c.137G>T r.137g>u p.Ser46Ile Unknown - pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 - PubMed: van der Klift 2010; PubMed: Leenen 2011 - - Germline - - - - - DNA SEQ - - CRC - - - M - Netherlands - - - - - 1 Carli Tops
+/. 2 c.137G>T r.137g>u p.Ser46Ile Unknown - pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 - PubMed: van der Klift 2010 - - Germline - - - - - DNA SEQ - - cancer - - duodenal cancer, 45 yr;InSiGHT LOVDv2 ID:1011003; F - United Kingdom (Great Britain) - - - - - 1 Carli Tops
+/. 2 c.137G>T r.137g>u p.Ser46Ile Unknown - pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 - PubMed: van der Klift 2010 - - Germline - - - - - DNA SEQ - - CRC - - - F - United Kingdom (Great Britain) - - - - - 1 Carli Tops
+/. 2 c.137G>T r.137g>u p.Ser46Ile Unknown - pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 - PubMed: van der Klift 2010 - - Germline - - - - - DNA SEQ - - CRC - - - M - Netherlands - - - - - 1 Carli Tops
+/. 2 c.137G>T r.137g>u p.Ser46Ile Paternal (confirmed) - pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 - PubMed: van der Klift 2010; PubMed: Leenen 2011 - - Germline - - - - - DNA SEQ - - cancer, brain - - - M - Netherlands - - - - - 1 Carli Tops
+/. 2 c.137G>T r.137g>u p.Ser46Ile Paternal (confirmed) - pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 - - - - Germline - - - - - DNA SEQ - - CRC - - also Breastcancer, Lungcancer;InSiGHT LOVDv2 ID:1012046; F - Netherlands - - - - - 1 Carli Tops
+?/. 2 c.137G>T r.137g>u p.Ser46Ile Unknown - likely pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 - PubMed: Borras 2013 - - Germline - - - - - DNA SEQ - - CRC - - - ? - - - - - - - 1 Gabriel Capella
+?/. 2 c.137G>T r.(?) p.(Ser46Ile) Unknown - likely pathogenic g.6045549C>A g.6005918C>A c.137G>T - PMS2_000061 - Mark Jenkins; John Hopper - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+?/. 2 c.137G>T r.(?) p.Ser46Ile Unknown - likely pathogenic g.6045549C>A g.6005918C>A c.137G>T - PMS2_000061 - Gabriel Capell‡ and Ignacio Blanco - - Germline - - - - - DNA SEQ - - cancer, bladder - - - F - - - - - - - 1 INSiGHT group
+?/. 2 c.137G>T r.(?) p.Ser46Ile Unknown - likely pathogenic g.6045549C>A g.6005918C>A c.137G>T - PMS2_000061 - Mensenkamp and Ligtenberg - - Germline - - - - - DNA SEQ - - cancer, endometrial - - MLH1 Methylation: no methylation; Method: MS-MLPA;InSiGHT LOVDv2 ID:1016878; F - - - - - - - 1 INSiGHT group
+?/. 2 c.137G>T r.137g>u p.Ser46Ile Unknown - 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 - - - - - DNA ? - - CRC - - patients mother had colon cancer, but does not have the same VUS. no further family of crc;InSiGHT LOVDv2 ID:1017199; F - United Kingdom (Great Britain) - - - pedigree - 1 Demetra Georgiou
+/. 2 c.137G>T r.137g>u p.Ser46Ile Paternal (confirmed) - pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 - Ian Berry, Leeds Genetics Laboratory - - Germline - - - - - DNA ? - - cancer, brain - - Patient and sister deceased with PNET, suspected CMMRD. Tumours in both found to be negative for PMS2 staining (normal & tumour cells). Compound heterozygosity for c.1A>G and c.137G>T confirmed by parental testing. No known phenotype in parents.;InSiGHT LOVDv2 ID:1017231; F - (United Kingdom (Great Britain)) white - - pedigree - 1 Ian Berry
+/. - c.137G>T r.(?) p.(Ser46Ile) Unknown - pathogenic g.6045549C>A g.6005918C>A missense variants or in frame indels - PMS2_000061 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - ? - PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
+/. - c.137G>T r.(?) p.(Ser46Ile) Unknown - pathogenic g.6045549C>A g.6005918C>A missense variants or in frame indels - PMS2_000061 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - ? - PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
+/. - c.137G>T r.(?) p.(Ser46Ile) Unknown - pathogenic g.6045549C>A g.6005918C>A missense variants or in frame indels - PMS2_000061 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - ? - PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
+/. 2 c.137G>T r.(?) p.(Ser46Ile) Unknown - pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 ICCON data, Royal Prince Alfred/Liverpool, NSW - - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.137G>T r.(?) p.(Ser46Ile) Unknown - pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 ICCON data, Westmead, NSW - - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.137G>T r.(?) p.(Ser46Ile) Unknown - pathogenic g.6045549C>A g.6005918C>A PMS2(NM_000535.5):c.137G>T (p.S46I, p.(Ser46Ile)), PMS2(NM_000535.7):c.137G>T (p.S46I) - PMS2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.137G>T r.(?) p.(Ser46Ile) Unknown - pathogenic g.6045549C>A g.6005918C>A PMS2(NM_000535.5):c.137G>T (p.S46I, p.(Ser46Ile)), PMS2(NM_000535.7):c.137G>T (p.S46I) - PMS2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.137G>T r.(?) p.(Ser46Ile) Unknown 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 - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
?/. - c.137G>T r.(?) p.(Ser46Ile) Parent #1 - NA g.6045549C>A - chr7_6045549_C_A - PMS2_000061 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 17/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 17 BRIDGES consortium
?/. - c.137G>T r.(?) p.(Ser46Ile) Parent #1 - NA g.6045549C>A - chr7_6045549_C_A - PMS2_000061 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 20/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 20 BRIDGES consortium
+?/+? 2 c.137G>T r.(?) p.(Ser46Ile) Unknown - likely pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 - - - - Germline/De novo (untested) - gnomAD: ALL:0.017% - - - DNA SEQ - year test performed: 2018, 7 gene ', Lynch-like', panel includes MLH1, MSH2, MSH6 and PMS2 CRC - - - M - (United Kingdom (Great Britain)) - - - - - 1 Treena Cranston
+?/. 2 c.137G>T r.(?) p.(Ser46Ile) Unknown - likely pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 - - - - Germline/De novo (untested) - - - - - DNA SEQ - year test performed: 2019, 7 gene ', Lynch-like', panel includes MLH1, MSH2, MSH6 and PMS2 CRC - - - F - (United Kingdom (Great Britain)) - - - - - 1 Treena Cranston
+/. 2 c.137G>T r.(?) p.(Ser46Ile) Unknown ACMG pathogenic g.6045549C>A g.6005918C>A - - PMS2_000061 - - - - Germline - - - - - DNA SEQ-NG blood - cancer, pancreatic - - - F - Belgium - - - - - 1 Kathleen Claes
+/. - c.137G>T r.(?) p.(Ser46Ile) Unknown - pathogenic g.6045549C>A - PMS2(NM_000535.5):c.137G>T (p.S46I, p.(Ser46Ile)), PMS2(NM_000535.7):c.137G>T (p.S46I) - PMS2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.137G>T r.(?) p.(Ser46Ile) Unknown - pathogenic g.6045549C>A - PMS2(NM_000535.5):c.137G>T (p.S46I, p.(Ser46Ile)), PMS2(NM_000535.7):c.137G>T (p.S46I) - PMS2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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