Full data view for gene PMS2


Criteria used for classification are available from 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 We encourage submission of relevant unpublished information to assist in the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.

1866 entries on 19 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 5i_6i c.(537+1_538-1)_(705+1_706-1) pathogenic r.? p? Unknown g.(6037055_6038738)_(6038907_6042083)del - - - PMS2_000293 - - - - Germline - - - 0 - DNA MLPA - - cancer, endometrial - - - F - Spain - - 0 - - 1 José Luis Soto
?/. 11 c.1875A>Y VUS r.(?) p.(Leu625Phe) Unknown g.6026521T>R - Leu625Phe - PMS2_000227 Idenitified in MCF-10F breast epithelial transform cells. PubMed: Balogh 2003 - - Somatic - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. 11 g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] pathogenic r.? p.? Paternal (inferred) g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] - - - PMS2_000326 - - - - Unknown - - - 0 - DNA, RNA arrayCNV, MLPA, PCR - - cancer, brain - - - M - - - - 0 pedigree - 1 Julia Vogt
+/. 11 g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] pathogenic r.? p.? Maternal (inferred) g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] - - - PMS2_000326 - - - - Unknown - - - 0 - DNA, RNA arrayCNV, MLPA, PCR - - cancer, brain - - - M - - - - 0 pedigree - 1 Julia Vogt
+?/. 1-10 c.(?_-30100)_(144+1_145-1)del ACMG: 4 r.(?) p.(?) Unknown g.(?) - - - EZH2_000001 Deletion PMS2 E1-E10; NG_008466.1(NM_000535.5):c.(?_-30100)_(144+1_145-1)del - - - Germline ? - - 0 - DNA MLPA, SEQ-NG-I germline - HNPCC 49738 - - F ? Germany german - 0 - - 1 Andreas Laner
-/- _1 c.-2559T>A benign r.(?) p.(=) Unknown g.6051209A>T g.6011578A>T - - PMS2_000158 Insight class: 1 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-2559T>A VUS r.(=) p.(=) Unknown g.6051209A>T - - - PMS2_000158 -2472 from transcription start site PubMed: Jeske 2008 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
-/- _1 c.-2146C>A benign r.(?) p.(=) Unknown g.6050796G>T g.6011165G>T - - PMS2_000136 Insight class: 1 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-2146C>A VUS r.(=) p.(=) Unknown g.6050796G>T - - - PMS2_000136 -2059 from the transcription start site PubMed: Jeske 2008 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/? _1 c.-963A>G VUS r.(?) p.(=) Unknown g.6049613T>C g.6009982T>C - - PMS2_000199 Insight class: 3 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-963A>G VUS r.(?) p.(=) Unknown g.6049613T>C - - - PMS2_000199 -876 from the transcription start site; allele possibly playing a functional role in familial hyperaldosteronism type II (FH-II) PubMed: Jeske 2008 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/? _1 c.-340G>T VUS r.(?) p.(=) Unknown g.6048990C>A g.6009359C>A - - PMS2_000001 Insight class: 3 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-340G>T VUS r.(?) p.(=) Unknown g.6048990C>A - - - PMS2_000001 - PubMed: Hendriks 2006 - - Germline - - - 0 - DNA SEQ - - CRC - - - ? - - - - 0 - - 1 Juul Wijnen
-/- _1 c.-323G>T benign r.(?) p.(=) Unknown g.6048973C>A g.6009342C>A - - PMS2_000002 Insight class: 1 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-323G>T VUS r.(=) p.(=) Unknown g.6048973C>A - - - PMS2_000002 - PubMed: Hendriks 2006 - - Germline - - - 0 - DNA SEQ - - CRC - - - ? - - - - 0 - - 1 Juul Wijnen
-/- _1 c.-195T>C benign r.(?) p.(=) Unknown g.6048845A>G g.6009214A>G - - PMS2_000003 Insight class: 1 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-195T>C VUS r.(=) p.(=) Unknown g.6048845A>G - - - PMS2_000003 - PubMed: Hendriks 2006 - - Germline - - - 0 - DNA SEQ - - CRC - - - ? - - - - 0 - - 1 Juul Wijnen
?/. _1 c.-195T>C VUS r.(=) p.(=) Unknown g.6048845A>G - - - PMS2_000003 - PubMed: Thompson 2004 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
-/- _1 c.-154C>G benign r.(?) p.(=) Unknown g.6048804G>C g.6009173G>C - - PMS2_000004 Insight class: 1 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 1 c.-154C>G benign r.(?) p.(=) Parent #1 g.6048804G>C - - - PMS2_000004 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 1 c.-154C>G benign r.(?) p.(=) Parent #1 g.6048804G>C - - - PMS2_000004 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 1 c.-154C>G benign r.(?) p.(=) Parent #1 g.6048804G>C - - - PMS2_000004 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 1 c.-154C>G benign r.(?) p.(=) Parent #1 g.6048804G>C - - - PMS2_000004 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
?/. _1 c.-154C>G VUS r.(=) p.(=) Unknown g.6048804G>C - - - PMS2_000004 - PubMed: Hendriks 2006 - - Germline - - - 0 - DNA SEQ - - CRC - - - ? - - - - 0 - - 1 Juul Wijnen
?/. _1 c.-154C>G VUS r.(=) p.(=) Unknown g.6048804G>C - - - PMS2_000004 - PubMed: Thompson 2004 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. _1 c.-120del VUS r.(?) p.(=) Unknown g.6048770del - - - PMS2_000052 - PubMed: Miyaki 1997 - - Somatic - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/? _1 c.-101A>G VUS r.(?) p.(=) Unknown g.6048751T>C g.6009120T>C - - PMS2_000005 Insight class: 3 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-101A>G VUS r.(?) p.(=) Unknown g.6048751T>C - - - PMS2_000005 - PubMed: Hendriks 2006 - - Germline - - - 0 - DNA SEQ - - CRC - - - ? - - - - 0 - - 1 Juul Wijnen
-/- _1 c.-93G>A benign r.(?) p.(=) Unknown g.6048743C>T g.6009112C>T - - PMS2_000241 Insight class: 1 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. _1 c.-93G>A likely benign r.(=) p.(=) Unknown g.6048743C>T - - - PMS2_000241 allele is trancsribed - - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - CRC - - - M - - North African - 0 - - 1 Carli Tops
-/. 1 c.-93G>C benign r.(?) p.(=) Parent #1 g.6048743C>G - - - PMS2_000448 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
+/+ 1i_2i c.(?_-87)_(23+1_24-1)del pathogenic r.0? p.0? Unknown g.(6045663_6048627)_(6048737_?)del - - - PMS2_000044 Insight class: 5 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.(?_-87)_(23+1_24-1)del pathogenic r.(?) p.? Unknown g.(6045663_6048627)_(6048737_?)del - Deletion of Exon 1 - PMS2_000044 - PubMed: Senter 2008 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/+ _1_10i c.(?_-87)_(1144+1_1145-1)del pathogenic r.0? p.0? Unknown g.(6027252_6029430)_(6048737_?)del - - - PMS2_000179 Insight class: 5 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. _1_10i c.(?_-87)_(1144+1_1145-1)del pathogenic r.(?) p.? Unknown g.(6027252_6029430)_(6048737_?)del - del ex01-10 - PMS2_000179 - - - - Germline - - - 0 - DNA PCR, SEQ - - CRC - - - ? - Germany - - 0 - - 1 Peter Propping, Prof. Dr. med.
+/. _1_10i c.(?_-87)_(1144+1_1145-1)del pathogenic r.(?) p.? Parent #1 g.(6027252_6029430)_(6048737_?)del - ex01_ex10del - PMS2_000179 - - - - Germline - - - 0 - DNA SEQ - - HNPCC - - - ? - Germany - - 0 - - 1 Beate Dr. Betz
+/. _1_12i c.(?_-87)_(2174+1_2175-1)del pathogenic r.? p.? Unknown g.(6018328_6022454)_(6048737_?)del - c.-87-?_2174+?del/Del exon 1-12 - PMS2_000366 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
+/. _1_14i c.(?_-87)_(2445+1_2446-1)del pathogenic r.? p.? Unknown g.(6013174_6017218)_(6048737_?)del - c.-87-?_2445+?del /Deletion af exon 1-14 - PMS2_000367 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
+/+ _1_15_ c.(?_-87)_(*160_?)del pathogenic r.0? p.0? Unknown g.(?_6012870)_(6048737_?)del - - - PMS2_000007 Insight class: 5 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. _1_15_ c.(?_-87)_(*160_?)del pathogenic r.(?) p.? Unknown g.(?_6012870)_(6048737_?)del - del ex1_15 - PMS2_000007 - PubMed: van der Klift 2005, PubMed: Hendriks 2006 - - Germline - - - 0 - DNA Southern - - CRC - - - ? - Netherlands - - 0 - - 1 Juul Wijnen
+/. _1_15_ c.(?_-87)_(*160_?)del pathogenic r.(?) p.? Parent #1 g.(?_6012870)_(6048737_?)del - Deletion of Exon 1-15 - PMS2_000007 - PubMed: Senter 2008; PubMed: Tomsic 2012 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_15_ c.(?_-87)_(*160_?)del pathogenic r.(?) p.? Unknown g.(?_6012870)_(6048737_?)del - Deletion of Exon 1-15 - PMS2_000007 - PubMed: Senter 2008; PubMed: Tomsic 2012 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_15_ c.(?_-87)_(*160_?)del pathogenic r.(?) p.? Unknown g.(?_6012870)_(6048737_?)del - deletion of Exon1-15 and duplication of 3' related gene (c.1-?_2589?del). - PMS2_000007 - PubMed: Hendriks 2006 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_15_ c.(?_-87)_(*160_?)del pathogenic r.(?) p.? Unknown g.(?_6012870)_(6048737_?)del - Deletion of PMS2 - PMS2_000007 - PubMed: Overbeek 2007; PubMed: Tomsic 2012 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_15_ c.(?_-87)_(*160_?)del pathogenic r.(?) p.? Unknown g.(?_6012870)_(6048737_?)del - del ex 1-15, dupPMS2CL - PMS2_000007 - PubMed: van der Klift 2010 - - Germline - - - 0 - DNA MLPA, Southern - - CRC - - - F - Netherlands - - 0 - - 1 Carli Tops
+/. _1_15_ c.(?_-87)_(*160_?)del pathogenic r.(?) p.? Unknown g.(?_6012870)_(6048737_?)del - PMS2 exon 1-15 del - PMS2_000007 - PubMed: Thompson 2013; PubMed: Tomsic 2012; PubMed: Senter 2008 - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Mark Jenkins
+/. _1_15_ c.(?_-87)_(*160_?)del pathogenic r.(?) p.? Unknown g.(?_6012870)_(6048737_?)del - MLH1:c.198C>T; PMS2:c.(?_-87)_(*160_?)del - PMS2_000007 - Mark Jenkins - - Germline - - - 0 - DNA ? - - ? - - - - - - - - 0 - - 1 INSiGHT group
+/. _1_15_ c.(?_-87)_(*160_?)del pathogenic r.? p.? Unknown g.(?_6012870)_(6048737_?)del - c.1-?_2586+?del Whole gene deletion - PMS2_000007 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - DNA ? - - HNPCC - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
?/. 1 c.-77del VUS r.? p.? Unknown g.6048727del - - - PMS2_000374 - - - - Unknown - - - 0 - DNA SEQ-NG-I - - HNPCC - - - - - Brazil - - 0 - - 1 Courtney Forgeng
?/. 1 c.-53G>A VUS r.(=) p.(=) Unknown g.6048703C>T - c.-53G>A - PMS2_000375 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
-?/. - c.-7T>C likely benign r.(?) p.(=) Unknown g.6048657A>G - PMS2(NM_000535.5):c.-7T>C (p.(=)) - PMS2_000425 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.1A>G VUS r.? p.? Unknown g.6048650T>C g.6009019T>C - - PMS2_000256 - - - - Germline - - - 0 - DNA SEQ - - CRC - - adenocarcinoma colon and caecum 4x CRC in family (incl 2 in index), 3 confirmed PMS2-def (incl 2 in index), MSI-high M - Netherlands - - 0 - - 1 Arjen Mensenkamp
+?/. - c.1A>G likely pathogenic r.(?) p.? Unknown g.6048650T>C - PMS2(NM_000535.5):c.1A>G (p.Met1Val) - PMS2_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 1 c.1A>G likely pathogenic r.(?) p.? Parent #1 g.6048650T>C - - - PMS2_000256 - PubMed: Senter 2008 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+?/. 1 c.1A>G likely pathogenic r.(?) p.? Parent #1 g.6048650T>C - - - PMS2_000256 - PubMed: Senter 2008 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+?/. 1 c.1A>G likely pathogenic r.(?) p.? Parent #1 g.6048650T>C - - - PMS2_000256 - PubMed: Senter 2008 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+?/. 1 c.1A>G likely pathogenic r.(?) p.? Unknown g.6048650T>C - - - PMS2_000256 - PubMed: Borras 2013 - - Germline - - - 0 - DNA SEQ - - cancer, endometrial - - - ? - - - - 0 - - 1 Gabriel Capella
+?/. 1 c.1A>G likely pathogenic r.(?) p.? Unknown g.6048650T>C - c.1A>G - PMS2_000256 - Mark Jenkins; John Hopper - - Germline - - - 0 - DNA SEQ - - ? - - - ? - - - - 0 - - 1 INSiGHT group
+?/. 1 c.1A>G likely pathogenic r.(?) p.? Unknown g.6048650T>C - c.1A>G - PMS2_000256 - Mark Jenkins; John Hopper - - Germline - - - 0 - DNA SEQ - - ? - - - ? - - - - 0 - - 1 INSiGHT group
+/. 1 c.1A>G pathogenic r.(?) p.? Maternal (confirmed) g.6048650T>C - - - PMS2_000256 - Ian Berry, Leeds Genetics Laboratory - - Germline - - - 0 - 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 - 0 pedigree - 1 Ian Berry
+?/. 1 c.1A>G likely pathogenic r.? p.Met1Val Unknown g.6048650T>C - c.1A>G - PMS2_000256 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
+/. 1 c.1A>G pathogenic r.? p.0? Unknown g.6048650T>C - - - PMS2_000256 ICCON data, Westmead, NSW - - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? - c.1A>G 4 r.? p.? Paternal (inferred) g.6048650T>C - - - PMS2_000256 Insight class: 4 - - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG-I - - HNPCC - - - F - Russian Federation Russian - 0 - - 1 Grigorij Yanus
+?/+? 1 c.2T>A ACMG: 4 r.? p.? Unknown g.6048649A>T - - - PMS2_000017 ACMG grading: PVS1, PM2, PM3, PP4, PP5 class 5 (Literature:PMID 27476653; PMID 26681312; PMID 28466842) - - rs587780059 Germline ? - - 0 - DNA SEQ-NG-I - - CRC 129643 - Adeno-Ca at age 40y (pT3, N0, M0), isolated loss of PMS2 in tumor M ? Germany - - 0 - - 1 Andreas Laner
?/. 1 c.2T>A VUS r.(?) p.0? Unknown g.6048649A>T - - - PMS2_000017 Founder mutation; Carrier frequency in Iceland: 0.092% - odds ratio for colorectal cancer 2.2 (0.94-5.3); endometrial cancer 7.5 (2.4-23.5); ovarian cancer 6.6 (1.8-24.3) PubMed: Haraldsdottir 2018 - - Germline - - - 0 - DNA SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders, screen date 2015-01-01 CRC - PubMed: Haraldsdottir 2018 - - - Iceland - - 0 - - 1 Sigurdis Haraldsdottir
?/. 1 c.2T>A VUS r.(?) p.Met1? Unknown g.6048649A>T - - - PMS2_000017 Founder mutation; Carrier frequency in Iceland: 0.092% - odds ratio for colorectal cancer 2.2 (0.94-5.3); endometrial cancer 7.5 (2.4-23.5); ovarian cancer 6.6 (1.8-24.3) PubMed: Haraldsdottir 2018 - - Germline - - - 0 - DNA SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders, screen date 2015-01-01 CRC - PubMed: Haraldsdottir 2018 - - - Iceland - - 0 - - 1 Sigurdis Haraldsdottir
?/. 1 c.2T>A VUS r.(?) p.Met1? Unknown g.6048649A>T - - - PMS2_000017 Founder mutation; Carrier frequency in Iceland: 0.092% - odds ratio for colorectal cancer 2.2 (0.94-5.3); endometrial cancer 7.5 (2.4-23.5); ovarian cancer 6.6 (1.8-24.3) PubMed: Haraldsdottir 2018 - - Germline - - - 0 - DNA SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders, screen date 2015-01-01 CRC - PubMed: Haraldsdottir 2018 - - - Iceland - - 0 - - 1 Sigurdis Haraldsdottir
+?/. - c.2T>A likely pathogenic r.(?) p.? Unknown g.6048649A>T - PMS2(NM_000535.5):c.2T>A (p.M1?) - PMS2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.3G>A pathogenic r.0? p.0? Parent #1 g.6048648C>T g.6009017C>T - - PMS2_000388 - - - - Germline - - - 0 - DNA SEQ - - HNPCC - - - - - Germany - - 0 - - 1 Andreas Laner
?/. 1 c.11C>G VUS r.(?) p.(Ala4Gly) Unknown g.6048640G>C - - - PMS2_000018 Carrier frequency in Iceland (%): 0.04; Odds ratio for CRC (95%CI): 2.64 (0.62-11.2) PubMed: Haraldsdottir 2018 - - Germline - 0.04 - 0 - 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 - - 0 - - 1 Sigurdis Haraldsdottir
-?/. - c.21G>C likely benign r.(?) p.(=) Unknown g.6048630C>G - PMS2(NM_000535.5):c.21G>C (p.=) - PMS2_000424 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.23+10G>C benign r.(=) p.(=) Unknown g.6048618C>G - PMS2(NM_000535.5):c.23+10G>C (p.(=)) - PMS2_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.23+10G>C likely benign r.(=) p.(=) Unknown g.6048618C>G - PMS2(NM_000535.5):c.23+10G>C (p.(=)) - PMS2_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.23+10G>C likely benign r.(=) p.(=) Unknown g.6048618C>G - PMS2(NM_000535.5):c.23+10G>C (p.(=)) - PMS2_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.23+10G>C likely benign r.(=) p.(=) Unknown g.6048618C>G - PMS2(NM_000535.5):c.23+10G>C (p.(=)) - PMS2_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.23+10G>C benign r.(=) p.(=) Unknown g.6048618C>G - PMS2(NM_000535.5):c.23+10G>C (p.(=)) - PMS2_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 1i c.23+10G>C likely benign r.(=) p.(=) Unknown g.6048618C>G - c.23+10G>C - PMS2_000340 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
-?/. - c.23+10G>C likely benign r.(=) p.(=) Unknown g.6048618C>G - PMS2(NM_000535.5):c.23+10G>C (p.(=)) - PMS2_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1i c.23+12T>C benign r.(=) p.(=) Parent #1 g.6048616A>G g.6008985A>G - - PMS2_000387 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.23+72C>T benign r.(=) p.(=) Unknown g.6048556G>A - PMS2(NM_000535.5):c.23+72C>T - PMS2_000423 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1i c.23+72C>T VUS r.(?) p.(=) Parent #1 g.6048556G>A - - - PMS2_000423 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
?/. 1i c.23+72C>T VUS r.(?) p.(=) Parent #1 g.6048556G>A - - - PMS2_000423 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
?/. 1i c.23+72C>T VUS r.(?) p.(=) Both (homozygous) g.6048556G>A - - - PMS2_000423 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
?/. 1i c.23+72C>T VUS r.(?) p.(=) Parent #1 g.6048556G>A - - - PMS2_000423 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
?/. 1i c.23+72C>T VUS r.(?) p.(=) Parent #1 g.6048556G>A - - - PMS2_000423 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
?/. 1i c.23+72C>T VUS r.(?) p.(=) Parent #1 g.6048556G>A - - - PMS2_000423 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
?/. 1i c.23+72C>T VUS r.(?) p.(=) Parent #1 g.6048556G>A - - - PMS2_000423 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
?/. 1i c.23+72C>T VUS r.(?) p.(=) Parent #1 g.6048556G>A - - - PMS2_000423 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
?/. 1i c.23+72C>T VUS r.(?) p.(=) Parent #1 g.6048556G>A - - - PMS2_000423 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
?/. 1i c.23+72C>T VUS r.(?) p.? Unknown g.6048556G>A - c.23+72C>T - PMS2_000423 WT MaxEntScan score: 8.7; Variant MaxEntScan score: 8.7; Difference in MaxEntScan score between variant and WT (%): 0 InSiGHT, PubMed: Rossi 2017 - - Germline - - - 0 - DNA ? - - ? - InSiGHT, PubMed: Rossi 2017 A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America - - Argentina - - 0 - - 5 Mev Dominguez Valentin
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.24_163del p.Ser8Argfs*5 Unknown g.6045579_6045674delinsATTT - - - PMS2_000205 96bp deletion across intron1-exon2 border PubMed: van der Klift 2010 - - Germline - - - 0 - DNA, RNA MLPA, RT-PCR, SEQ - - cancer, endometrial - - - F - Netherlands - - 0 - - 1 Carli Tops
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.24_163del p.Ser8Argfs*5 Unknown g.6045579_6045674delinsATTT - - - PMS2_000205 96bp deletion across intron1-exon2 border PubMed: van der Klift 2010 - - Germline - - - 0 - DNA MLPA, PCR, SEQ - - ? - - healthy parent, no material son (C33, ihc pms2-) available.;InSiGHT LOVDv2 ID:1011008; F - Netherlands - - 0 - - 1 Carli Tops
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.(?) p.?/(p.Ser8ArgfsX5) Unknown g.6045579_6045674delinsATTT - c.24-12_107delinsAAAT - PMS2_000205 96bp deletion acros intron1-exon2 border Carli Tops - - Germline - - - 0 - DNA SEQ - - ? - - - ? - - - - 0 - - 1 INSiGHT group
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.(?) p.?/(p.Ser8ArgfsX5) Unknown g.6045579_6045674delinsATTT - c.24-12_107delinsAAAT - PMS2_000205 96bp deletion acros intron1-exon2 border Carli Tops - - Germline - - - 0 - DNA SEQ - - ? - - - ? - - - - 0 - - 1 INSiGHT group
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.(?) p.?/(p.Ser8ArgfsX5) Unknown g.6045579_6045674delinsATTT - c.24-12_107delinsAAAT - PMS2_000205 - Carli Tops - - Germline - - - 0 - DNA SEQ - - ? - - - ? - - - - 0 - - 1 INSiGHT group
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.(?) p.?/(p.Ser8ArgfsX5) Unknown g.6045579_6045674delinsATTT - c.24-12_107delinsAAAT - PMS2_000205 - Carli Tops - - Germline - - - 0 - DNA SEQ - - ? - - - ? - - - - 0 - - 1 INSiGHT group
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.(?) p.?/(p.Ser8ArgfsX5) Unknown g.6045579_6045674delinsATTT - c.24-12_107delinsAAAT - PMS2_000205 - Carli Tops - - Germline - - - 0 - DNA SEQ - - ? - - - ? - - - - 0 - - 1 INSiGHT group
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.(?) p.? Unknown g.6045579_6045674delinsATTT - PMS2:c.24-12_107delinsAAAT - PMS2_000205 - Fiona Lalloo - - Germline - - - 0 - DNA SEQ - - ? - - - ? - - - - 0 - - 1 INSiGHT group
+/. 1i_2 c.24-12_107delinsAAAT pathogenic r.? p.? Unknown g.6045579_6045674delinsATTT - - - PMS2_000205 ICCON data, Westmead, NSW - - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.24-?_988+?del pathogenic r.(?) p.? Unknown g.6031604_6045662del - Deletion exons 2–9 - PMS2_000457 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - DNA ? - - HNPCC - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - 0 - - 1 Kristina Lagerstedt Robinson
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