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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

2840 entries on 29 pages. Showing entries 1 - 100.
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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     
+/. 5i_6i c.(537+1_538-1)_(705+1_706-1) r.? p? Unknown - pathogenic g.(6037055_6038738)_(6038907_6042083)del - - - PMS2_000293 - - - - Germline - - - - - DNA MLPA - - cancer, endometrial - - - F - Spain - - - - - 1 José Luis Soto
-/- _1 c.-2559T>A r.(?) p.(=) Unknown - benign g.6051209A>T g.6011578A>T - - PMS2_000158 Insight class: 1 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-2559T>A r.(=) p.(=) Unknown - VUS g.6051209A>T g.6011578A>T - - PMS2_000158 -2472 from transcription start site PubMed: Jeske 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
-/- _1 c.-2146C>A r.(?) p.(=) Unknown - benign g.6050796G>T g.6011165G>T - - PMS2_000136 Insight class: 1 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-2146C>A r.(=) p.(=) Unknown - VUS g.6050796G>T g.6011165G>T - - PMS2_000136 -2059 from the transcription start site PubMed: Jeske 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/? _1 c.-963A>G r.(?) p.(=) Unknown - VUS g.6049613T>C g.6009982T>C - - PMS2_000199 Insight class: 3 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-963A>G r.(?) p.(=) Unknown - VUS g.6049613T>C g.6009982T>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 - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/? _1 c.-340G>T r.(?) p.(=) Unknown - VUS g.6048990C>A g.6009359C>A - - PMS2_000001 Insight class: 3 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-340G>T r.(?) p.(=) Unknown - VUS g.6048990C>A g.6009359C>A - - PMS2_000001 - PubMed: Hendriks 2006 - - Germline - - - - - DNA SEQ - - CRC - - - ? - - - - - - - 1 Juul Wijnen
-/- _1 c.-323G>T r.(?) p.(=) Unknown - benign g.6048973C>A g.6009342C>A - - PMS2_000002 Insight class: 1 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-323G>T r.(=) p.(=) Unknown - VUS g.6048973C>A g.6009342C>A - - PMS2_000002 - PubMed: Hendriks 2006 - - Germline - - - - - DNA SEQ - - CRC - - - ? - - - - - - - 1 Juul Wijnen
-/- _1 c.-195T>C r.(?) p.(=) Unknown - benign g.6048845A>G g.6009214A>G - - PMS2_000003 Insight class: 1 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-195T>C r.(=) p.(=) Unknown - VUS g.6048845A>G g.6009214A>G - - PMS2_000003 - PubMed: Hendriks 2006 - - Germline - - - - - DNA SEQ - - CRC - - - ? - - - - - - - 1 Juul Wijnen
?/. _1 c.-195T>C r.(=) p.(=) Unknown - VUS g.6048845A>G g.6009214A>G - - PMS2_000003 - PubMed: Thompson 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
-/- _1 c.-154C>G r.(?) p.(=) Unknown - benign g.6048804G>C g.6009173G>C - - PMS2_000004 Insight class: 1 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.-154C>G r.(?) p.(=) Parent #1 - benign g.6048804G>C g.6009173G>C - - PMS2_000004 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 1 c.-154C>G r.(?) p.(=) Parent #1 - benign g.6048804G>C g.6009173G>C - - PMS2_000004 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 1 c.-154C>G r.(?) p.(=) Parent #1 - benign g.6048804G>C g.6009173G>C - - PMS2_000004 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 1 c.-154C>G r.(?) p.(=) Parent #1 - benign g.6048804G>C g.6009173G>C - - PMS2_000004 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. _1 c.-154C>G r.(=) p.(=) Unknown - VUS g.6048804G>C g.6009173G>C - - PMS2_000004 - PubMed: Hendriks 2006 - - Germline - - - - - DNA SEQ - - CRC - - - ? - - - - - - - 1 Juul Wijnen
?/. _1 c.-154C>G r.(=) p.(=) Unknown - VUS g.6048804G>C g.6009173G>C - - PMS2_000004 - PubMed: Thompson 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
-/. - c.-154C>G r.(?) p.(=) Unknown - benign g.6048804G>C g.6009173G>C - - PMS2_000004 - - - - Germline - - - - - DNA SEQ-NG - - cancer, colon contributed by Dept. of Dr Vaccaro - - - - Argentina - - - - - 1 Carlos Vaccaro
-/. - c.-154C>G r.(?) p.(=) Unknown - benign g.6048804G>C g.6009173G>C - - PMS2_000004 - - - - Germline - - - - - DNA SEQ-NG - - cancer, colon contributed by Dept. of Dr Vaccaro - - - - Argentina - - - - - 1 Carlos Vaccaro
?/. _1 c.-120del r.(?) p.(=) Unknown - VUS g.6048773del g.6009142del - - PMS2_000052 - PubMed: Miyaki 1997 - - Somatic - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/? _1 c.-101A>G r.(?) p.(=) Unknown - VUS g.6048751T>C g.6009120T>C - - PMS2_000005 Insight class: 3 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-101A>G r.(?) p.(=) Unknown - VUS g.6048751T>C g.6009120T>C - - PMS2_000005 - PubMed: Hendriks 2006 - - Germline - - - - - DNA SEQ - - CRC - - - ? - - - - - - - 1 Juul Wijnen
-/- _1 c.-93G>A r.(?) p.(=) Unknown - benign g.6048743C>T g.6009112C>T - - PMS2_000241 Insight class: 1 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. _1 c.-93G>A r.(=) p.(=) Unknown - likely benign g.6048743C>T g.6009112C>T - - PMS2_000241 allele is trancsribed - - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CRC - - - M - - North African - - - - 1 Carli Tops
-/. 1 c.-93G>C r.(?) p.(=) Parent #1 - benign g.6048743C>G g.6009112C>G - - PMS2_000448 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. - c.-93G>C r.(?) p.(=) Unknown - benign g.6048743C>G - - - PMS2_000448 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-93G>T r.(?) p.(=) Unknown - benign g.6048743C>A - - - AIMP2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1i_2i c.(?_-87)_(23+1_24-1)del r.0? p.0? Unknown - pathogenic g.(6045663_6048627)_(6048737_?)del - - - PMS2_000044 Insight class: 5 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.(?_-87)_(23+1_24-1)del r.(?) p.? Unknown - pathogenic g.(6045663_6048627)_(6048737_?)del - Deletion of Exon 1 - PMS2_000044 - PubMed: Senter 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/+ _1_10i c.(?_-87)_(1144+1_1145-1)del r.0? p.0? Unknown - pathogenic g.(6027252_6029430)_(6048737_?)del - - - PMS2_000179 Insight class: 5 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_10i c.(?_-87)_(1144+1_1145-1)del r.(?) p.? Unknown - pathogenic g.(6027252_6029430)_(6048737_?)del - del ex01-10 - PMS2_000179 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. _1_10i c.(?_-87)_(1144+1_1145-1)del r.(?) p.? Parent #1 - pathogenic g.(6027252_6029430)_(6048737_?)del - ex01_ex10del - PMS2_000179 - - - - Germline - - - - - DNA SEQ - - HNPCC - - - ? - Germany - - - - - 1 Beate Dr. Betz
+/. _1_12i c.(?_-87)_(2174+1_2175-1)del r.? p.? Unknown - pathogenic g.(6018328_6022454)_(6048737_?)del - c.-87-?_2174+?del/Del exon 1-12 - PMS2_000366 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
+/. _1_14i c.(?_-87)_(2445+1_2446-1)del r.? p.? Unknown - pathogenic g.(6013174_6017218)_(6048737_?)del - c.-87-?_2445+?del /Deletion af exon 1-14 - PMS2_000367 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
+/+ _1_15_ c.(?_-87)_(*160_?)del r.0? p.0? Unknown - pathogenic g.(?_6012870)_(6048737_?)del - - - PMS2_000007 Insight class: 5 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_15_ c.(?_-87)_(*160_?)del r.(?) p.? Unknown - pathogenic g.(?_6012870)_(6048737_?)del - del ex1_15 - PMS2_000007 - PubMed: van der Klift 2005, PubMed: Hendriks 2006 - - Germline - - - - - DNA Southern - - CRC - - - ? - Netherlands - - - - - 1 Juul Wijnen
+/. _1_15_ c.(?_-87)_(*160_?)del r.(?) p.? Parent #1 - pathogenic g.(?_6012870)_(6048737_?)del - Deletion of Exon 1-15 - PMS2_000007 - PubMed: Senter 2008; PubMed: Tomsic 2012 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. _1_15_ c.(?_-87)_(*160_?)del r.(?) p.? Unknown - pathogenic g.(?_6012870)_(6048737_?)del - Deletion of Exon 1-15 - PMS2_000007 - PubMed: Senter 2008; PubMed: Tomsic 2012 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. _1_15_ c.(?_-87)_(*160_?)del r.(?) p.? Unknown - pathogenic g.(?_6012870)_(6048737_?)del - deletion of Exon1-15 and duplication of 3' related gene (c.1-?_2589?del). - PMS2_000007 - PubMed: Hendriks 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. _1_15_ c.(?_-87)_(*160_?)del r.(?) p.? Unknown - pathogenic g.(?_6012870)_(6048737_?)del - Deletion of PMS2 - PMS2_000007 - PubMed: Overbeek 2007; PubMed: Tomsic 2012 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. _1_15_ c.(?_-87)_(*160_?)del r.(?) p.? Unknown - pathogenic g.(?_6012870)_(6048737_?)del - del ex 1-15, dupPMS2CL - PMS2_000007 - PubMed: van der Klift 2010 - - Germline - - - - - DNA MLPA, Southern - - CRC - - - F - Netherlands - - - - - 1 Carli Tops
+/. _1_15_ c.(?_-87)_(*160_?)del r.(?) p.? Unknown - pathogenic g.(?_6012870)_(6048737_?)del - PMS2 exon 1-15 del - PMS2_000007 - PubMed: Thompson 2013; PubMed: Tomsic 2012; PubMed: Senter 2008 - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Mark Jenkins
+/. _1_15_ c.(?_-87)_(*160_?)del r.(?) p.? Unknown - pathogenic g.(?_6012870)_(6048737_?)del - MLH1:c.198C>T; PMS2:c.(?_-87)_(*160_?)del - PMS2_000007 - Mark Jenkins - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
+/. _1_15_ c.(?_-87)_(*160_?)del r.? p.? Unknown - pathogenic g.(?_6012870)_(6048737_?)del - c.1-?_2586+?del Whole gene deletion - PMS2_000007 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - DNA ? - - HNPCC - PubMed: Lagerstedt-Robinson 2016 - - - Sweden - - - - - 1 Kristina Lagerstedt Robinson
?/. 1 c.-77del r.(?) p.(=) Unknown - VUS g.6048727del g.6009096del - - PMS2_000374 - - - - Unknown - - - - - DNA SEQ-NG-I - - HNPCC - - - - - Brazil - - - - - 1 Courtney Forgeng
?/. 1 c.-53G>A r.(=) p.(=) Unknown - VUS g.6048703C>T g.6009072C>T c.-53G>A - PMS2_000375 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
-/. - c.-53G>A r.(?) p.(=) Unknown - benign g.6048703C>T - - - PMS2_000375 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-43A>G r.(?) p.(=) Unknown - likely benign g.6048693T>C g.6009062T>C - - AIMP2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 10i_15_ c.(1144+1_1145-1)_*160{0} r.? p.? Unknown ACMG likely pathogenic g.(?_5996249)_(6027252_6029430)del g.(?_5956618)_(5987621_5989799)del del ex11-15 - PMS2_000512 deletion PMS2 NG_008466.1(NM_000535.5):c.(1144+1_1145-1)_(*16781_?)del PubMed: Arnold 2020 - - Germline ? - - - - DNA MLPA, SEQ-NG-I germline - HNPCC 72394 PubMed: Arnold 2020 - F ? Germany Germany - - - - 1 Andreas Laner
+?/. _1_10i c.-87_(1144+1_1145-1){0} r.0? p.0? Unknown ACMG likely pathogenic g.(6027252_6029430)_(6078750_?)del g.(5987621_5989799)_(6039119_?)del del ex 1-10 c.(?_-30100)_(144+1_145-1)del - PMS2_001010 - PubMed: Arnold 2020 - - Germline ? - - - - DNA MLPA, SEQ-NG-I germline - HNPCC 49738 PubMed: Arnold 2020 - F ? Germany Germany - - - - 1 Andreas Laner
?/. 1 c.1A>G r.(?) p.(Met1?) Unknown - VUS g.6048650T>C g.6009019T>C - - PMS2_000256 - - - - Germline - - - - - 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 - - - - - 1 Arjen Mensenkamp
+?/. - c.1A>G r.(?) p.(Met1?) Unknown - likely pathogenic g.6048650T>C g.6009019T>C PMS2(NM_001322014.1):c.1A>G (p.M1?) - PMS2_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.1A>G r.(?) p.(Met1?) Parent #1 - likely pathogenic g.6048650T>C g.6009019T>C - - PMS2_000256 - PubMed: Senter 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+?/. 1 c.1A>G r.(?) p.(Met1?) Parent #1 - likely pathogenic g.6048650T>C g.6009019T>C - - PMS2_000256 - PubMed: Senter 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+?/. 1 c.1A>G r.(?) p.(Met1?) Parent #1 - likely pathogenic g.6048650T>C g.6009019T>C - - PMS2_000256 - PubMed: Senter 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+?/. 1 c.1A>G r.(?) p.(Met1?) Unknown - likely pathogenic g.6048650T>C g.6009019T>C - - PMS2_000256 - PubMed: Borras 2013 - - Germline - - - - - DNA SEQ - - cancer, endometrial - - - ? - - - - - - - 1 Gabriel Capella
+?/. 1 c.1A>G r.(?) p.(Met1?) Unknown - likely pathogenic g.6048650T>C g.6009019T>C c.1A>G - PMS2_000256 - Mark Jenkins; John Hopper - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+?/. 1 c.1A>G r.(?) p.(Met1?) Unknown - likely pathogenic g.6048650T>C g.6009019T>C c.1A>G - PMS2_000256 - Mark Jenkins; John Hopper - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
+/. 1 c.1A>G r.(?) p.(Met1?) Maternal (confirmed) - pathogenic g.6048650T>C g.6009019T>C - - PMS2_000256 - Ian Berry, Leeds Genetics Laboratory - - Germline - - - - - 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 - - pedigree - 1 Ian Berry
+?/. 1 c.1A>G r.(?) p.Met1Val Unknown - likely pathogenic g.6048650T>C g.6009019T>C c.1A>G - PMS2_000256 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
+/. 1 c.1A>G r.(?) p.0? Unknown - pathogenic g.6048650T>C g.6009019T>C - - PMS2_000256 ICCON data, Westmead, NSW - - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/+? - c.1A>G r.(?) p.(Met1?) Paternal (inferred) - likely pathogenic g.6048650T>C g.6009019T>C - - PMS2_000256 Insight class: 4 - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - HNPCC - - - F - Russian Federation Russian - - - - 1 Grigorij Yanus
?/. - c.1A>G r.(?) p.(Met1?) Unknown - VUS g.6048650T>C - PMS2(NM_001322014.1):c.1A>G (p.M1?) - PMS2_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1A>G r.? p.? Parent #1 - NA g.6048650T>C - chr7_6048650_T_C - PMS2_000256 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 6/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 6 BRIDGES consortium
?/. - c.1A>G r.? p.? Parent #1 - NA g.6048650T>C - chr7_6048650_T_C - PMS2_000256 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 3 BRIDGES consortium
+?/+? 1 c.2T>A r.(?) p.(Met1?) Unknown ACMG likely pathogenic g.6048649A>T g.6009018A>T - - PMS2_000017 ACMG grading: PVS1, PM2, PM3, PP4, PP5 class 5 (Literature:PMID 27476653; PMID 26681312; PMID 28466842) - - rs587780059 Germline ? - - - - DNA SEQ-NG-I - - CRC 129643 - Adeno-Ca at age 40y (pT3, N0, M0), isolated loss of PMS2 in tumor M ? Germany - - - - - 1 Andreas Laner
?/. 1 c.2T>A r.(?) p.0? Unknown - VUS g.6048649A>T g.6009018A>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 - - - - - 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 - - - - - 1 Sigurdis Haraldsdottir
?/. 1 c.2T>A r.(?) p.Met1? Unknown - VUS g.6048649A>T g.6009018A>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 - - - - - 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 - - - - - 1 Sigurdis Haraldsdottir
?/. 1 c.2T>A r.(?) p.Met1? Unknown - VUS g.6048649A>T g.6009018A>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 - - - - - 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 - - - - - 1 Sigurdis Haraldsdottir
+?/. - c.2T>A r.(?) p.(Met1?) Unknown - likely pathogenic g.6048649A>T g.6009018A>T PMS2(NM_000535.7):c.2T>A (p.M1?) - PMS2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2T>A r.? p.? Parent #1 - NA g.6048649A>T - chr7_6048649_A_T - PMS2_000017 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
+/. - c.2T>A r.(?) p.(Met1?) Unknown - pathogenic g.6048649A>T - PMS2(NM_000535.7):c.2T>A (p.M1?) - PMS2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2T>C r.? p.? Parent #1 - NA g.6048649A>G - chr7_6048649_A_G - PMS2_000995 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.2T>C r.? p.? Parent #1 - NA g.6048649A>G - chr7_6048649_A_G - PMS2_000995 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
+/. 1 c.3G>A r.0? p.0? Parent #1 - pathogenic g.6048648C>T g.6009017C>T - - PMS2_000388 - - - - Germline - - - - - DNA SEQ - - HNPCC - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.4dup r.(?) p.(Glu2Glyfs*4) Parent #1 - NA g.6048648dup - chr7_6048646_T_TC - PMS2_000994 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.4G>A r.(?) p.(Glu2Lys) Parent #1 - NA g.6048647C>T - chr7_6048647_C_T - PMS2_000993 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.4G>C r.(?) p.(Glu2Gln) Parent #1 - NA g.6048647C>G - chr7_6048647_C_G - PMS2_000992 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.8G>A r.(?) p.(Arg3Gln) Parent #1 - NA g.6048643C>T - chr7_6048643_C_T - PMS2_000991 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. 1 c.11C>G r.(?) p.(Ala4Gly) Unknown - VUS g.6048640G>C g.6009009G>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 - - - 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
?/. - c.11C>G r.(?) p.(Ala4Gly) Parent #1 - NA g.6048640G>C - chr7_6048640_G_C - PMS2_000018 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.11C>G r.(?) p.(Ala4Gly) Parent #1 - NA g.6048640G>C - chr7_6048640_G_C - PMS2_000018 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.20C>G r.(?) p.(Ser7Trp) Parent #1 - NA g.6048631G>C - chr7_6048631_G_C - PMS2_000990 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.20C>G r.(?) p.(Ser7Trp) Parent #1 - NA g.6048631G>C - chr7_6048631_G_C - PMS2_000990 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.20C>T r.(?) p.(Ser7Leu) Parent #1 - NA g.6048631G>A - chr7_6048631_G_A - PMS2_000989 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
-?/. - c.21G>C r.(?) p.(Ser7=) Unknown - likely benign g.6048630C>G g.6008999C>G PMS2(NM_000535.7):c.21G>C (p.S7=) - PMS2_000424 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.22A>C r.(?) p.(Ser8Arg) Unknown - VUS g.6048629T>G - - - AIMP2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.22A>G r.(?) p.(Ser8Gly) Parent #1 - NA g.6048629T>C - chr7_6048629_T_C - PMS2_000988 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
+?/. - c.23+1G>C r.spl? p.? Unknown - likely pathogenic g.6048627C>G - PMS2(NM_000535.5):c.23+1G>C (p.?) - AIMP2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.23+2T>G r.spl? p.? Parent #1 - NA g.6048626A>C - chr7_6048626_A_C - PMS2_000987 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
-/. - c.23+10G>C r.(=) p.(=) Unknown - benign g.6048618C>G g.6008987C>G PMS2(NM_000535.5):c.23+10G>C (p.(=), ), PMS2(NM_000535.7):c.23+10G>C - PMS2_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.23+10G>C r.(=) p.(=) Unknown - likely benign g.6048618C>G g.6008987C>G PMS2(NM_000535.5):c.23+10G>C (p.(=), ), PMS2(NM_000535.7):c.23+10G>C - PMS2_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.23+10G>C r.(=) p.(=) Unknown - likely benign g.6048618C>G g.6008987C>G PMS2(NM_000535.5):c.23+10G>C (p.(=), ), PMS2(NM_000535.7):c.23+10G>C - PMS2_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.23+10G>C r.(=) p.(=) Unknown - likely benign g.6048618C>G g.6008987C>G PMS2(NM_000535.5):c.23+10G>C (p.(=), ), PMS2(NM_000535.7):c.23+10G>C - PMS2_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.23+10G>C r.(=) p.(=) Unknown - benign g.6048618C>G g.6008987C>G PMS2(NM_000535.5):c.23+10G>C (p.(=), ), PMS2(NM_000535.7):c.23+10G>C - PMS2_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1i c.23+10G>C r.(=) p.(=) Unknown - likely benign g.6048618C>G g.6008987C>G c.23+10G>C - PMS2_000340 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
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