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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

23 entries on 1 page. Showing entries 1 - 23.
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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     
-?/-? 2 c.52A>G r.(?) p.(Ile18Val) - likely benign g.6045634T>C g.6006003T>C - - PMS2_000009 Insight class: 2 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/. - c.52A>G r.(?) p.(Ile18Val) - benign g.6045634T>C g.6006003T>C PMS2(NM_000535.5):c.52A>G (p.I18V, p.(Ile18Val)) - PMS2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.52A>G r.(?) p.(Ile18Val) - benign g.6045634T>C g.6006003T>C PMS2(NM_000535.5):c.52A>G (p.I18V, p.(Ile18Val)) - PMS2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.52A>G r.(?) p.(Ile18Val) - benign g.6045634T>C g.6006003T>C PMS2(NM_000535.5):c.52A>G (p.I18V, p.(Ile18Val)) - PMS2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.52A>G r.(?) p.(Ile18Val) - likely benign g.6045634T>C g.6006003T>C PMS2(NM_000535.5):c.52A>G (p.I18V, p.(Ile18Val)) - PMS2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.52A>G r.(?) p.(Ile18Val) - benign g.6045634T>C g.6006003T>C PMS2(NM_000535.5):c.52A>G (p.I18V, p.(Ile18Val)) - PMS2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. 2 c.52A>G r.(?) p.(Ile18Val) - VUS g.6045634T>C g.6006003T>C - - PMS2_000009 Carrier frequency in Iceland (%): 1.73; Odds ratio for CRC (95%CI): 0.9 (0.67-1.21) PubMed: Haraldsdottir 2018 - - Germline - 1.73 - 0 - Sigurdis Haraldsdottir
?/. 2 c.52A>G r.(?) p.(Ile18Val) - VUS g.6045634T>C g.6006003T>C - - PMS2_000009 - PubMed: Hendriks 2006 - - Germline - - - 0 - Juul Wijnen
?/. 2 c.52A>G r.(?) p.(Ile18Val) - VUS g.6045634T>C g.6006003T>C - - PMS2_000009 - - - - Germline - - - 0 - Carli Tops
?/. 2 c.52A>G r.(?) p.(Ile18Val) - VUS g.6045634T>C g.6006003T>C 780G>C (Ser260Ser) - PMS2_000009 - PubMed: Clendenning 2006 - - Germline - - - 0 - Michael Woods
?/. 2 c.52A>G r.(?) p.(Ile18Val) - VUS g.6045634T>C g.6006003T>C 780G>C - PMS2_000009 - PubMed: Clendenning 2006 - - Germline - - - 0 - Michael Woods
?/. 2 c.52A>G r.(?) p.(Ile18Val) - VUS g.6045634T>C g.6006003T>C 780G>C (S260S), 1621G>A (E541K) - PMS2_000009 - PubMed: Clendenning 2006 - - Germline - - - 0 - Michael Woods
?/. 2 c.52A>G r.(?) p.(Ile18Val) - VUS g.6045634T>C g.6006003T>C c.52A>G - PMS2_000009 - Mark Jenkins; John Hopper - - Germline - - - 0 - INSiGHT group
?/. 2 c.52A>G r.(?) p.Ile18Val - VUS g.6045634T>C g.6006003T>C c.354-1G>A + c.52A>G - PMS2_000009 - Mensenkamp and Ligtenberg - - Germline - - - 0 - INSiGHT group
?/. 2 c.52A>G r.(?) p.Ile18Val - VUS g.6045634T>C g.6006003T>C c.52A>G - PMS2_000009 based on population freq Mensenkamp and Ligtenberg - - Germline - - - 0 - INSiGHT group
?/. 2 c.52A>G r.(?) p.(Ile18Val) - VUS g.6045634T>C g.6006003T>C c.52A>G - PMS2_000009 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.52A>G r.(?) p.(Ile18Val) - likely benign g.6045634T>C g.6006003T>C - - PMS2_000009 in this patient in trans with the pathogenic variant c.1882C>T . c.52G segregates independently from c.1882 in this family. PubMed: Hendriks 2006 - - Germline - - - 0 - Carli Tops
-?/. 2 c.52A>G r.(?) p.Ile18Val - likely benign g.6045634T>C g.6006003T>C - - PMS2_000009 - - - - Germline - - - 0 - Jack Ji
-?/. 2 c.52A>G r.(?) p.Ile18Val - likely benign g.6045634T>C g.6006003T>C c.52A>G - PMS2_000009 - - - - Germline - - - 0 - Thomas Hansen
-?/. 2 c.52A>G r.(?) p.Ile18Val - likely benign g.6045634T>C g.6006003T>C c.52A>G - PMS2_000009 - - - - Germline - - - 0 - Thomas Hansen
-?/. 2 c.52A>G r.(?) p.Ile18Val - likely benign g.6045634T>C g.6006003T>C c.52A>G - PMS2_000009 - - - - Germline - - - 0 - Thomas Hansen
-?/. - c.52A>G r.(?) p.(Ile18Val) - likely benign g.6045634T>C g.6006003T>C PMS2(NM_000535.5):c.52A>G (p.I18V, p.(Ile18Val)) - PMS2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.52A>G r.(?) p.(Ile18Val) - benign g.6045634T>C g.6006003T>C PMS2(NM_000535.5):c.52A>G (p.I18V, p.(Ile18Val)) - PMS2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
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