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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

20 entries on 1 page. Showing entries 1 - 20.
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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     

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Disease     

ID_report     

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Owner     
?/? 11 c.1437C>G r.(?) p.(His479Gln) Unknown - VUS g.6026959G>C g.5987328G>C - - PMS2_000063 Insight class: 3 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1437C>G r.(?) p.(His479Gln) Unknown - benign g.6026959G>C g.5987328G>C PMS2(NM_000535.5):c.1437C>G (p.H479Q, p.(His479Gln), p.His479Gln), PMS2(NM_000535.7):c.1437C>G (p.H479Q) - PMS2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1437C>G r.(?) p.(His479Gln) Unknown - benign g.6026959G>C g.5987328G>C PMS2(NM_000535.5):c.1437C>G (p.H479Q, p.(His479Gln), p.His479Gln), PMS2(NM_000535.7):c.1437C>G (p.H479Q) - PMS2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1437C>G r.(?) p.(His479Gln) Unknown - benign g.6026959G>C g.5987328G>C PMS2(NM_000535.5):c.1437C>G (p.H479Q, p.(His479Gln), p.His479Gln), PMS2(NM_000535.7):c.1437C>G (p.H479Q) - PMS2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1437C>G r.(?) p.(His479Gln) Unknown - benign g.6026959G>C g.5987328G>C PMS2(NM_000535.5):c.1437C>G (p.H479Q, p.(His479Gln), p.His479Gln), PMS2(NM_000535.7):c.1437C>G (p.H479Q) - PMS2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.1437C>G r.(?) p.(His479Gln) Parent #1 - VUS g.6026959G>C g.5987328G>C - - PMS2_000063 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. 11 c.1437C>G r.(?) p.(His479Gln) Both (homozygous) - VUS g.6026959G>C g.5987328G>C - - PMS2_000063 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. 11 c.1437C>G r.(?) p.(His479Gln) Unknown - VUS g.6026959G>C g.5987328G>C - - PMS2_000063 Carrier frequency in Iceland (%): 0.3; Odds ratio for CRC (95%CI): 1.12 (0.58-2.15) PubMed: Haraldsdottir 2018 - - Germline - 0.3 - - - DNA ? - WGS (Illumina) 8,453 Icelanders, irrespective cancer status, mean depth >, 10X, all patients with dMMR CRC diagnosed 2000-2009 germline DNA typed for WGS MMR, when one of three founder mutations was absent WGS performed, screen date 2015-01-01 CRC - PubMed: Haraldsdottir 2018 - - - Iceland - - - - - 1 Sigurdis Haraldsdottir
?/. 11 c.1437C>G r.(?) p.(His479Gln) Unknown - VUS g.6026959G>C g.5987328G>C c.1437C>G - PMS2_000063 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
?/. 11 c.1437C>G r.(?) p.(His479Gln) Unknown - VUS g.6026959G>C g.5987328G>C - - PMS2_000063 - PubMed: Basil 1999 - - Somatic - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 11 c.1437C>G r.(?) p.(His479Gln) Unknown - VUS g.6026959G>C g.5987328G>C - - PMS2_000063 - PubMed: Wang 1999 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 11 c.1437C>G r.(?) p.(His479Gln) Unknown - VUS g.6026959G>C g.5987328G>C - - PMS2_000063 - - - - Germline - - - - - DNA SEQ - - CRC - - - ? - Germany - - - - - 1 Elke Holinski-Feder
?/. 11 c.1437C>G r.(?) p.(His479Gln) Unknown - VUS g.6026959G>C g.5987328G>C - - PMS2_000063 - - - - Germline - - - - - DNA SEQ - - cancer - - small bowel carcinoma;InSiGHT LOVDv2 ID:1012047; M - Netherlands - - - - - 1 Carli Tops
?/. 11 c.1437C>G r.(?) p.His479Gln Unknown - VUS g.6026959G>C g.5987328G>C c.1437C>G - PMS2_000063 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
?/. 11 c.1437C>G r.(?) p.His479Gln Unknown - VUS g.6026959G>C g.5987328G>C c.1437C>G - PMS2_000063 WT MaxEntScan score: 7.77; Variant MaxEntScan score: 7.77; Difference in MaxEntScan score between variant and WT (%): 0 InSiGHT, PubMed: Rossi 2017 - - Germline - - - - - DNA ? - - ? - InSiGHT, PubMed: Rossi 2017 A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America - - Argentina - - - - - 1 Mev Dominguez Valentin
?/. - c.1437C>G r.(?) p.(His479Gln) Unknown - VUS g.6026959G>C g.5987328G>C Missense - PMS2_000063 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - - - - 1 Kristina Lagerstedt Robinson
?/. 11 c.1437C>G r.(?) p.(His479Gln) Unknown - VUS g.6026959G>C g.5987328G>C - - PMS2_000063 - - - - Germline ? - - - - DNA SEQ-NG - screen data 2015-09-18 cancer, colon - FCC4145 crc 32y; no family history M - United Kingdom (Great Britain) white - - pedigree - 1 Demetra Georgiou
-?/. - c.1437C>G r.(?) p.(His479Gln) Unknown - likely benign g.6026959G>C g.5987328G>C PMS2(NM_000535.5):c.1437C>G (p.H479Q, p.(His479Gln), p.His479Gln), PMS2(NM_000535.7):c.1437C>G (p.H479Q) - PMS2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1437C>G r.(?) p.(His479Gln) Unknown - benign g.6026959G>C g.5987328G>C PMS2(NM_000535.5):c.1437C>G (p.H479Q, p.(His479Gln), p.His479Gln), PMS2(NM_000535.7):c.1437C>G (p.H479Q) - PMS2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1437C>G r.(?) p.(His479Gln) Unknown - benign g.6026959G>C - PMS2(NM_000535.5):c.1437C>G (p.H479Q, p.(His479Gln), p.His479Gln), PMS2(NM_000535.7):c.1437C>G (p.H479Q) - PMS2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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