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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

50 entries on 1 page. Showing entries 1 - 50.
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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.59G>A r.(?) p.(Arg20Gln) - benign g.6045627C>T g.6005996C>T - - PMS2_000008 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/. - c.59G>A r.(?) p.(Arg20Gln) - benign g.6045627C>T g.6005996C>T PMS2(NM_000535.5):c.59G>A (p.R20Q) - PMS2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.59G>A r.(?) p.(Arg20Gln) - benign g.6045627C>T g.6005996C>T PMS2(NM_000535.5):c.59G>A (p.R20Q) - PMS2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.59G>A r.(?) p.(Arg20Gln) - likely benign g.6045627C>T g.6005996C>T PMS2(NM_000535.5):c.59G>A (p.R20Q) - PMS2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.59G>A r.(?) p.(Arg20Gln) - benign g.6045627C>T g.6005996C>T PMS2(NM_000535.5):c.59G>A (p.R20Q) - PMS2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_NKI
-/. - c.59G>A r.(?) p.(Arg20Gln) - benign g.6045627C>T g.6005996C>T PMS2(NM_000535.5):c.59G>A (p.R20Q) - PMS2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.59G>A r.(?) p.(Arg20Gln) - benign g.6045627C>T g.6005996C>T PMS2(NM_000535.5):c.59G>A (p.R20Q) - PMS2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. 2 c.59G>A r.(?) p.(Arg20Gln) - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 2 c.59G>A r.(?) p.(Arg20Gln) - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 2 c.59G>A r.(?) p.(Arg20Gln) - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 2 c.59G>A r.(?) p.(Arg20Gln) - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 2 c.59G>A r.(?) p.(Arg20Gln) - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 2 c.59G>A r.(?) p.(Arg20Gln) - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 2 c.59G>A r.(?) p.(Arg20Gln) - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 2 c.59G>A r.(?) p.(Arg20Gln) - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
?/. 2 c.59G>A r.(?) p.(Arg20Gln) - 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 - - - 0 - INSiGHT group
?/. 2 c.59G>A r.(=) p.(Arg20Gln) - VUS g.6045627C>T g.6005996C>T - - PMS2_000008 - PubMed: Hendriks 2006 - - Germline - - - 0 - Juul Wijnen
?/. 2 c.59G>A r.(=) p.(Arg20Gln) - VUS g.6045627C>T g.6005996C>T G>A at 59 - PMS2_000008 - PubMed: Liu 1995, {dbSNP10254120} - - Germline - 0.11 - 0 - INSiGHT group
?/. 2 c.59G>A r.(=) p.(Arg20Gln) - VUS g.6045627C>T g.6005996C>T - - PMS2_000008 - - - rs10254120 Germline - - - 0 - INSiGHT group
?/. 2 c.59G>A r.(=) p.(Arg20Gln) - VUS g.6045627C>T g.6005996C>T 1621G>A (E541K) - PMS2_000008 - PubMed: Clendenning 2006 - - Germline - - - 0 - Michael Woods
?/. 2 c.59G>A r.(=) p.(Arg20Gln) - VUS g.6045627C>T g.6005996C>T - - PMS2_000008 - PubMed: Clendenning 2006 - - Germline - - - 0 - Michael Woods
?/. 2 c.59G>A r.(=) p.(Arg20Gln) - VUS g.6045627C>T g.6005996C>T - - PMS2_000008 - PubMed: Clendenning 2006 - - Germline - - - 0 - Michael Woods
?/. 2 c.59G>A r.(=) p.(Arg20Gln) - VUS g.6045627C>T g.6005996C>T 780G>C (Ser260Ser) - PMS2_000008 - PubMed: Clendenning 2006 - - Germline - - - 0 - Michael Woods
?/. 2 c.59G>A r.(=) p.(Arg20Gln) - VUS g.6045627C>T g.6005996C>T - - PMS2_000008 - - - rs10254120 Germline - 0.11 - 0 - InSiGHT - John-Paul Plazzer
?/. 2 c.59G>A r.(=) p.(Arg20Gln) - VUS g.6045627C>T g.6005996C>T CAG described as Glu (glutamic acid) - PMS2_000008 - PubMed: Viel 1998 - - Germline - - - 0 - Michael Woods
?/. 2 c.59G>A r.(=) p.(Arg20Gln) - VUS g.6045627C>T g.6005996C>T - - PMS2_000008 - PubMed: Nicolaides 1994 - - Germline - - - 0 - Michael Woods
-?/. 2 c.59G>A r.(=) p.(Arg20Gln) - 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) - - - 0 - Michael Woods
?/. 2 c.59G>A r.(=) p.(Arg20Gln) - VUS g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - 0 - Gabriel Capella
-/. 2 c.59G>A r.(?) p.Arg20Gln - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - 0 - Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - 0 - Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - 0 - Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - 0 - Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - 0 - Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - 0 - Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - 0 - Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - 0 - Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - 0 - Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - 0 - Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - 0 - Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - 0 - Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - 0 - Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - 0 - Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - 0 - Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - 0 - Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - 0 - Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - 0 - Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - 0 - Jack Ji
-/. 2 c.59G>A r.(?) p.Arg20Gln - benign g.6045627C>T g.6005996C>T c.59G>A - PMS2_000008 - - - - Germline - - - 0 - Thomas Hansen
-/. 2 c.59G>A r.(?) p.Arg20Gln - benign g.6045627C>T g.6005996C>T c.59G>A - PMS2_000008 - - - - Germline - - - 0 - Thomas Hansen
-/. 2 c.59G>A r.(?) p.Arg20Gln - benign g.6045627C>T g.6005996C>T c.59G>A - PMS2_000008 - - - - Germline - - - 0 - Thomas Hansen
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