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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

50 entries on 1 page. Showing entries 1 - 50.
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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     
-/- 2 c.59G>A r.(?) p.(Arg20Gln) Unknown - benign g.6045627C>T g.6005996C>T - - PMS2_000008 Insight class: 1 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.59G>A r.(?) p.(Arg20Gln) Unknown - benign g.6045627C>T g.6005996C>T PMS2(NM_000535.5):c.59G>A (p.R20Q, p.Arg20Gln), PMS2(NM_000535.7):c.59G>A (p.R20Q) - PMS2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.59G>A r.(?) p.(Arg20Gln) Unknown - benign g.6045627C>T g.6005996C>T PMS2(NM_000535.5):c.59G>A (p.R20Q, p.Arg20Gln), PMS2(NM_000535.7):c.59G>A (p.R20Q) - PMS2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.59G>A r.(?) p.(Arg20Gln) Unknown - likely benign g.6045627C>T g.6005996C>T PMS2(NM_000535.5):c.59G>A (p.R20Q, p.Arg20Gln), PMS2(NM_000535.7):c.59G>A (p.R20Q) - PMS2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.59G>A r.(?) p.(Arg20Gln) Unknown - benign g.6045627C>T g.6005996C>T PMS2(NM_000535.5):c.59G>A (p.R20Q, p.Arg20Gln), PMS2(NM_000535.7):c.59G>A (p.R20Q) - PMS2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.59G>A r.(?) p.(Arg20Gln) Unknown - benign g.6045627C>T g.6005996C>T PMS2(NM_000535.5):c.59G>A (p.R20Q, p.Arg20Gln), PMS2(NM_000535.7):c.59G>A (p.R20Q) - PMS2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.59G>A r.(?) p.(Arg20Gln) Unknown - benign g.6045627C>T g.6005996C>T PMS2(NM_000535.5):c.59G>A (p.R20Q, p.Arg20Gln), PMS2(NM_000535.7):c.59G>A (p.R20Q) - PMS2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.59G>A r.(?) p.(Arg20Gln) Parent #1 - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2 c.59G>A r.(?) p.(Arg20Gln) Parent #1 - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2 c.59G>A r.(?) p.(Arg20Gln) Parent #1 - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2 c.59G>A r.(?) p.(Arg20Gln) Parent #1 - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2 c.59G>A r.(?) p.(Arg20Gln) Parent #1 - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2 c.59G>A r.(?) p.(Arg20Gln) Parent #1 - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2 c.59G>A r.(?) p.(Arg20Gln) Parent #1 - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2 c.59G>A r.(?) p.(Arg20Gln) Parent #1 - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. 2 c.59G>A r.(?) p.(Arg20Gln) Unknown - VUS g.6045627C>T g.6005996C>T c.59G>A - PMS2_000008 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.59G>A r.(=) p.(Arg20Gln) Unknown - VUS g.6045627C>T g.6005996C>T - - PMS2_000008 - PubMed: Hendriks 2006 - - Germline - - - - - DNA SEQ - - CRC - - - ? - - - - - - - 1 Juul Wijnen
?/. 2 c.59G>A r.(=) p.(Arg20Gln) Parent #1 - VUS g.6045627C>T g.6005996C>T G>A at 59 - PMS2_000008 - PubMed: Liu 1995, {dbSNP10254120} - - Germline - 0.11 - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
?/. 2 c.59G>A r.(=) p.(Arg20Gln) Parent #1 - VUS g.6045627C>T g.6005996C>T - - PMS2_000008 - - - rs10254120 Germline - - - - - DNA SEQ - - ?, CRC - - - ? - United Kingdom (Great Britain) - - - - - 1 INSiGHT group
?/. 2 c.59G>A r.(=) p.(Arg20Gln) Parent #1 - VUS g.6045627C>T g.6005996C>T 1621G>A (E541K) - PMS2_000008 - PubMed: Clendenning 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.59G>A r.(=) p.(Arg20Gln) Parent #1 - VUS g.6045627C>T g.6005996C>T - - PMS2_000008 - PubMed: Clendenning 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.59G>A r.(=) p.(Arg20Gln) Parent #1 - VUS g.6045627C>T g.6005996C>T - - PMS2_000008 - PubMed: Clendenning 2006 - - Germline - - - - - DNA ? - - cancer, endometrial - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.59G>A r.(=) p.(Arg20Gln) Parent #1 - VUS g.6045627C>T g.6005996C>T 780G>C (Ser260Ser) - PMS2_000008 - PubMed: Clendenning 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.59G>A r.(=) p.(Arg20Gln) Parent #1 - VUS g.6045627C>T g.6005996C>T - - PMS2_000008 - - - rs10254120 Germline - 0.11 - - - DNA SEQ - - ? - - - ? - - - - - - - 1 InSiGHT - John-Paul Plazzer
?/. 2 c.59G>A r.(=) p.(Arg20Gln) Unknown - VUS g.6045627C>T g.6005996C>T CAG described as Glu (glutamic acid) - PMS2_000008 - PubMed: Viel 1998 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.59G>A r.(=) p.(Arg20Gln) Unknown - VUS g.6045627C>T g.6005996C>T - - PMS2_000008 - PubMed: Nicolaides 1994 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
-?/. 2 c.59G>A r.(=) p.(Arg20Gln) Unknown - NA g.6045627C>T g.6005996C>T p.Arg20Gln - PMS2_000008 defective in activating p73-dependent apoptotic response to cisplatin and therefore may modulate tumor responses to ciplatin in cancer patients. PubMed: Marinovic-Terzic 2008 - - In vitro (cloned) - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 2 c.59G>A r.(=) p.(Arg20Gln) Unknown - VUS g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - - - DNA SEQ - - CRC - - - ? - - - - - - - 1 Gabriel Capella
-/. 2 c.59G>A r.(?) p.Arg20Gln Unknown - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - - - DNA SEQ - screen date 2015-01-01 ? - - Maternal aunt (62, dec.) had Breast Cancer at 60 years old; Paternal aunt (50, dec.) had Breast Cancer at 50 years old F - - - - - - - 1 Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln Unknown - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - - - DNA SEQ - screen date 2015-01-01 ? - - Maternal grandmother (47, dec.) had Unk Brain? at 47 years old; Half-sister, mother (61, dec.) had Nsclc Egfr Positive at 58 years old; Brother (60) had Anaplastic Thyroid Ca at 47 years old; Father (65, dec.) had Nslc at 65 years old; Maternal uncle (65, dec.) had Lung Cancer at 64 years old; F - - - - - - - 1 Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln Unknown - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - Maternal aunt (61) had Breast Cancer at 50 years old; Paternal grandmother (62, dec.) had Lymphoma at 55 years old F - - - - - - - 1 Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln Unknown - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 cancer, breast - - no family history F - - - - - - - 1 Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln Unknown - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 cancer, breast - - no family history F - - - - - - - 1 Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln Unknown - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - no family history F - - - - - - - 1 Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln Unknown - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - Paternal grandmother (90 or earlier) had Breast Cancer at 80 years old; Maternal aunt (54) had Breast Cancer at 40 years old F - - - - - - - 1 Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln Unknown - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - Father (71, dec.) had Prostate Cancer at 62 years old;Paternal uncle (70, dec.) had Prostate Cancer at 64 years old; Paternal uncle (72, dec.) had Prostate Cancer at 62 years old; Paternal uncle (73, dec.) had Prostate Cancer at 64 years old M - - - - - - - 1 Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln Unknown - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - Paternal grandmother (87) had Breast Cancer at 61 years old M - - - - - - - 1 Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln Unknown - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - Sister (15, dec.) had Leukemia at 14 years old; Maternal grandfather (60, dec.) had Bone Cancer at 59 years old F - - - - - - - 1 Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln Unknown - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - - - DNA SEQ - screen date 2017-01-01 ? - - no family history F - - - - - - - 1 Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln Unknown - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - - - DNA SEQ - screen date 2017-01-01 ? - - Mother (74, dec.) had Breast Cancer at 65 years old; Mother (74, dec.) had Colorectal Cancer at 72 years old; Mother (74, dec.) had Primary Peritoneal Cancer at 71 years old; Sister (50, dec.) had Breast Cancer at 38 years old; Sister (66) had Kidney Cancer at 65 years old; Sister (66) had Thymoma at 65 years old; Sister (66) had Ovarian Cancer at 65 years old; Maternal grandfather (71, dec.) had Gastric Cancer at 70 years old; Paternal grandfather (83, dec.) had Breast Cancer at 65 years old; Brother (71) had Colorectal Cancer at 57 years old; Brother (71) had Bladder at 68 years old; Brother (71) had Prostate Cancer at 50 years old; Sister (66) has a mutation in KRAS F - - - - - - - 1 Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln Unknown - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - - - DNA SEQ - screen date 2017-01-01 ? - - no family history M - - - - - - - 1 Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln Unknown - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - - - DNA SEQ - screen date 2017-01-01 ? - - no family history M - - - - - - - 1 Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln Unknown - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - - - DNA SEQ - screen date 2017-01-01 ? - - Maternal aunt (70) had Breast Cancer at 70 years old; Paternal grandfather (70, dec.) had Lung at 69 years old; Father (65, dec.) had Colorectal Cancer at 55 years old; Father (65, dec.) had Aml at 64 years old F - - - - - - - 1 Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln Unknown - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - - - DNA SEQ - screen date 2017-01-01 ? - - no family history F - - - - - - - 1 Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln Unknown - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - Paternal aunt (66) had Colorectal Cancer at 56 years old; Maternal aunt (81) had Breast Cancer at 63 years old; Maternal grandmother (45, dec.) had Ovarian Cancer at 43 years old F - - - - - - - 1 Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln Unknown - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - - - DNA SEQ - screen date 2017-01-01 ? - - Maternal aunt (67, dec.) had Kidney Cancer at 67 years old; Maternal grandmother (90 or older, dec.) had Breast Cancer at 72 years old; Paternal uncle (41) had Esophagus at 40 years old F - - - - - - - 1 Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln Unknown - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - - - DNA SEQ - screen date 2017-01-01 cancer, skin - - Mother (84, dec.) had All Over Abdomen When They Found It at 84 years old; Maternal grandmother (40, dec.) had Stomach ? at 40 years old; Paternal grandmother (42, dec.) had Breast Cancer at 27 years old; Sister (59) had Colorectal Cancer at 55 years old; Maternal aunt (78, dec.) had Breast Cancer at 50 years old; Maternal aunt (78, dec.) had Colorectal Cancer at 60 years old; Paternal aunt (78, dec.) had Breast Cancer at 48 years old; Paternal uncle (70, dec.) had Lung at 68 years old; Paternal uncle (65, dec.) had Kidney Cancer at 65 years old; Paternal uncle (65, dec.) had Liver at 65 years old; Father (82, dec.) had Colorectal Cancer at 80 years old; Maternal grandfather (82, dec.) had Bone Spine? at 78 years old; Paternal uncle (73, dec.) had Colorectal Cancer at 50 years old F - - - - - - - 1 Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln Unknown - benign g.6045627C>T g.6005996C>T c.59G>A - PMS2_000008 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
-/. 2 c.59G>A r.(?) p.Arg20Gln Unknown - benign g.6045627C>T g.6005996C>T c.59G>A - PMS2_000008 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
-/. 2 c.59G>A r.(?) p.Arg20Gln Unknown - benign g.6045627C>T g.6005996C>T c.59G>A - PMS2_000008 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
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