All transcript variants in 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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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_000535.5 transcript reference sequence.

1978 entries on 20 pages. Showing entries 1 - 100.
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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     
+/. 5i_6i c.(537+1_538-1)_(705+1_706-1) r.? p? - pathogenic g.(6037055_6038738)_(6038907_6042083)del - - - PMS2_000293 - - - - Germline - - - 0 - José Luis Soto
?/. 11 c.1875A>Y r.(?) p.(Leu625Phe) - VUS g.6026521T>R - Leu625Phe - PMS2_000227 Idenitified in MCF-10F breast epithelial transform cells. Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Balogh 2003 - - Somatic - - - 0 - Michael Woods
+/. 11 g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] r.? p.? - pathogenic g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] - - - PMS2_000326 - - - - Unknown - - - 0 - Julia Vogt
+/. 11 g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] r.? p.? - pathogenic g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] - - - PMS2_000326 - - - - Unknown - - - 0 - Julia Vogt
+?/. 1-10 c.(?_-30100)_(144+1_145-1)del r.(?) p.(?) ACMG likely pathogenic g.(?) - - - EZH2_000001 Deletion PMS2 E1-E10; NG_008466.1(NM_000535.5):c.(?_-30100)_(144+1_145-1)del - - - Germline ? - - 0 - Andreas Laner
-/- _1 c.-2559T>A r.(?) p.(=) - benign g.6051209A>T g.6011578A>T - - PMS2_000158 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1 c.-2559T>A r.(=) p.(=) - VUS g.6051209A>T g.6011578A>T - - PMS2_000158 -2472 from transcription start site PubMed: Jeske 2008 - - Germline - - - 0 - Michael Woods
-/- _1 c.-2146C>A r.(?) p.(=) - benign g.6050796G>T g.6011165G>T - - PMS2_000136 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1 c.-2146C>A r.(=) p.(=) - VUS g.6050796G>T g.6011165G>T - - PMS2_000136 -2059 from the transcription start site PubMed: Jeske 2008 - - Germline - - - 0 - Michael Woods
?/? _1 c.-963A>G r.(?) p.(=) - VUS g.6049613T>C g.6009982T>C - - PMS2_000199 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1 c.-963A>G r.(?) p.(=) - 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 - - - 0 - Michael Woods
?/? _1 c.-340G>T r.(?) p.(=) - VUS g.6048990C>A g.6009359C>A - - PMS2_000001 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1 c.-340G>T r.(?) p.(=) - VUS g.6048990C>A g.6009359C>A - - PMS2_000001 - PubMed: Hendriks 2006 - - Germline - - - 0 - Juul Wijnen
-/- _1 c.-323G>T r.(?) p.(=) - benign g.6048973C>A g.6009342C>A - - PMS2_000002 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1 c.-323G>T r.(=) p.(=) - VUS g.6048973C>A g.6009342C>A - - PMS2_000002 - PubMed: Hendriks 2006 - - Germline - - - 0 - Juul Wijnen
-/- _1 c.-195T>C r.(?) p.(=) - benign g.6048845A>G g.6009214A>G - - PMS2_000003 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1 c.-195T>C r.(=) p.(=) - VUS g.6048845A>G g.6009214A>G - - PMS2_000003 - PubMed: Hendriks 2006 - - Germline - - - 0 - Juul Wijnen
?/. _1 c.-195T>C r.(=) p.(=) - VUS g.6048845A>G g.6009214A>G - - PMS2_000003 - PubMed: Thompson 2004 - - Germline - - - 0 - Michael Woods
-/- _1 c.-154C>G r.(?) p.(=) - benign g.6048804G>C g.6009173G>C - - PMS2_000004 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-/. 1 c.-154C>G r.(?) p.(=) - benign g.6048804G>C g.6009173G>C - - PMS2_000004 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1 c.-154C>G r.(?) p.(=) - benign g.6048804G>C g.6009173G>C - - PMS2_000004 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1 c.-154C>G r.(?) p.(=) - benign g.6048804G>C g.6009173G>C - - PMS2_000004 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
-/. 1 c.-154C>G r.(?) p.(=) - benign g.6048804G>C g.6009173G>C - - PMS2_000004 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
?/. _1 c.-154C>G r.(=) p.(=) - VUS g.6048804G>C g.6009173G>C - - PMS2_000004 - PubMed: Hendriks 2006 - - Germline - - - 0 - Juul Wijnen
?/. _1 c.-154C>G r.(=) p.(=) - VUS g.6048804G>C g.6009173G>C - - PMS2_000004 - PubMed: Thompson 2004 - - Germline - - - 0 - Michael Woods
-/. - c.-154C>G r.(?) p.(=) - benign g.6048804G>C g.6009173G>C - - PMS2_000004 - - - - Germline - - - 0 - Carlos Vaccaro
-/. - c.-154C>G r.(?) p.(=) - benign g.6048804G>C g.6009173G>C - - PMS2_000004 - - - - Germline - - - 0 - Carlos Vaccaro
?/. _1 c.-120del r.(?) p.(=) - VUS g.6048773del g.6009142del - - PMS2_000052 - PubMed: Miyaki 1997 - - Somatic - - - 0 - Michael Woods
?/? _1 c.-101A>G r.(?) p.(=) - VUS g.6048751T>C g.6009120T>C - - PMS2_000005 Insight class: 3 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1 c.-101A>G r.(?) p.(=) - VUS g.6048751T>C g.6009120T>C - - PMS2_000005 - PubMed: Hendriks 2006 - - Germline - - - 0 - Juul Wijnen
-/- _1 c.-93G>A r.(?) p.(=) - benign g.6048743C>T g.6009112C>T - - PMS2_000241 Insight class: 1 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
-?/. _1 c.-93G>A r.(=) p.(=) - likely benign g.6048743C>T g.6009112C>T - - PMS2_000241 allele is trancsribed - - - Germline - - - 0 - Carli Tops
-/. 1 c.-93G>C r.(?) p.(=) - benign g.6048743C>G g.6009112C>G - - PMS2_000448 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
+/+ 1i_2i c.(?_-87)_(23+1_24-1)del r.0? p.0? - pathogenic g.(6045663_6048627)_(6048737_?)del - - - PMS2_000044 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. 1 c.(?_-87)_(23+1_24-1)del r.(?) p.? - pathogenic g.(6045663_6048627)_(6048737_?)del - Deletion of Exon 1 - PMS2_000044 - PubMed: Senter 2008 - - Germline - - - 0 - Michael Woods
+/+ _1_10i c.(?_-87)_(1144+1_1145-1)del r.0? p.0? - pathogenic g.(6027252_6029430)_(6048737_?)del - - - PMS2_000179 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. _1_10i c.(?_-87)_(1144+1_1145-1)del r.(?) p.? - pathogenic g.(6027252_6029430)_(6048737_?)del - del ex01-10 - PMS2_000179 - - - - Germline - - - 0 - Peter Propping, Prof. Dr. med.
+/. _1_10i c.(?_-87)_(1144+1_1145-1)del r.(?) p.? - pathogenic g.(6027252_6029430)_(6048737_?)del - ex01_ex10del - PMS2_000179 - - - - Germline - - - 0 - Beate Dr. Betz
+/. _1_12i c.(?_-87)_(2174+1_2175-1)del r.? p.? - pathogenic g.(6018328_6022454)_(6048737_?)del - c.-87-?_2174+?del/Del exon 1-12 - PMS2_000366 - - - - Germline - - - 0 - Thomas Hansen
+/. _1_14i c.(?_-87)_(2445+1_2446-1)del r.? p.? - pathogenic g.(6013174_6017218)_(6048737_?)del - c.-87-?_2445+?del /Deletion af exon 1-14 - PMS2_000367 - - - - Germline - - - 0 - Thomas Hansen
+/+ _1_15_ c.(?_-87)_(*160_?)del r.0? p.0? - pathogenic g.(?_6012870)_(6048737_?)del - - - PMS2_000007 Insight class: 5 - - - SUMMARY record - - - 0 - InSiGHT - John-Paul Plazzer
+/. _1_15_ c.(?_-87)_(*160_?)del r.(?) p.? - pathogenic g.(?_6012870)_(6048737_?)del - del ex1_15 - PMS2_000007 - PubMed: van der Klift 2005, PubMed: Hendriks 2006 - - Germline - - - 0 - Juul Wijnen
+/. _1_15_ c.(?_-87)_(*160_?)del r.(?) p.? - pathogenic g.(?_6012870)_(6048737_?)del - Deletion of Exon 1-15 - PMS2_000007 - PubMed: Senter 2008; PubMed: Tomsic 2012 - - Germline - - - 0 - Michael Woods
+/. _1_15_ c.(?_-87)_(*160_?)del r.(?) p.? - pathogenic g.(?_6012870)_(6048737_?)del - Deletion of Exon 1-15 - PMS2_000007 - PubMed: Senter 2008; PubMed: Tomsic 2012 - - Germline - - - 0 - Michael Woods
+/. _1_15_ c.(?_-87)_(*160_?)del r.(?) p.? - 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 - - - 0 - Michael Woods
+/. _1_15_ c.(?_-87)_(*160_?)del r.(?) p.? - pathogenic g.(?_6012870)_(6048737_?)del - Deletion of PMS2 - PMS2_000007 - PubMed: Overbeek 2007; PubMed: Tomsic 2012 - - Germline - - - 0 - Michael Woods
+/. _1_15_ c.(?_-87)_(*160_?)del r.(?) p.? - pathogenic g.(?_6012870)_(6048737_?)del - del ex 1-15, dupPMS2CL - PMS2_000007 - PubMed: van der Klift 2010 - - Germline - - - 0 - Carli Tops
+/. _1_15_ c.(?_-87)_(*160_?)del r.(?) p.? - pathogenic g.(?_6012870)_(6048737_?)del - PMS2 exon 1-15 del - PMS2_000007 - PubMed: Thompson 2013; PubMed: Tomsic 2012; PubMed: Senter 2008 - - Germline - - - 0 - Mark Jenkins
+/. _1_15_ c.(?_-87)_(*160_?)del r.(?) p.? - pathogenic g.(?_6012870)_(6048737_?)del - MLH1:c.198C>T; PMS2:c.(?_-87)_(*160_?)del - PMS2_000007 - Mark Jenkins - - Germline - - - 0 - INSiGHT group
+/. _1_15_ c.(?_-87)_(*160_?)del r.? p.? - pathogenic g.(?_6012870)_(6048737_?)del - c.1-?_2586+?del Whole gene deletion - PMS2_000007 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
?/. 1 c.-77del r.(?) p.(=) - VUS g.6048727del g.6009096del - - PMS2_000374 - - - - Unknown - - - 0 - Barbara Luisa Soares
?/. 1 c.-53G>A r.(=) p.(=) - VUS g.6048703C>T g.6009072C>T c.-53G>A - PMS2_000375 - - - - Germline - - - 0 - Thomas Hansen
-?/. - c.-43A>G r.(?) p.(=) - likely benign g.6048693T>C g.6009062T>C - - AIMP2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 c.1A>G r.(?) p.(Met1?) - VUS g.6048650T>C g.6009019T>C - - PMS2_000256 - - - - Germline - - - 0 - Arjen Mensenkamp
+?/. - c.1A>G r.(?) p.(Met1?) - likely pathogenic g.6048650T>C g.6009019T>C - - PMS2_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. 1 c.1A>G r.(?) p.(Met1?) - likely pathogenic g.6048650T>C g.6009019T>C - - PMS2_000256 - PubMed: Senter 2008 - - Germline - - - 0 - Michael Woods
+?/. 1 c.1A>G r.(?) p.(Met1?) - likely pathogenic g.6048650T>C g.6009019T>C - - PMS2_000256 - PubMed: Senter 2008 - - Germline - - - 0 - Michael Woods
+?/. 1 c.1A>G r.(?) p.(Met1?) - likely pathogenic g.6048650T>C g.6009019T>C - - PMS2_000256 - PubMed: Senter 2008 - - Germline - - - 0 - Michael Woods
+?/. 1 c.1A>G r.(?) p.(Met1?) - likely pathogenic g.6048650T>C g.6009019T>C - - PMS2_000256 - PubMed: Borras 2013 - - Germline - - - 0 - Gabriel Capella
+?/. 1 c.1A>G r.(?) p.(Met1?) - likely pathogenic g.6048650T>C g.6009019T>C c.1A>G - PMS2_000256 - Mark Jenkins; John Hopper - - Germline - - - 0 - INSiGHT group
+?/. 1 c.1A>G r.(?) p.(Met1?) - likely pathogenic g.6048650T>C g.6009019T>C c.1A>G - PMS2_000256 - Mark Jenkins; John Hopper - - Germline - - - 0 - INSiGHT group
+/. 1 c.1A>G r.(?) p.(Met1?) - pathogenic g.6048650T>C g.6009019T>C - - PMS2_000256 - Ian Berry, Leeds Genetics Laboratory - - Germline - - - 0 - Ian Berry
+?/. 1 c.1A>G r.(?) p.Met1Val - likely pathogenic g.6048650T>C g.6009019T>C c.1A>G - PMS2_000256 - - - - Germline - - - 0 - Thomas Hansen
+/. 1 c.1A>G r.(?) p.0? - pathogenic g.6048650T>C g.6009019T>C - - PMS2_000256 ICCON data, Westmead, NSW - - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
+/+? - c.1A>G r.(?) p.(Met1?) - likely pathogenic g.6048650T>C g.6009019T>C - - PMS2_000256 Insight class: 4 - - - Germline/De novo (untested) - - - 0 - Grigorij Yanus
+?/+? 1 c.2T>A r.(?) p.(Met1?) 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 ? - - 0 - Andreas Laner
?/. 1 c.2T>A r.(?) p.0? - 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 - - - 0 - Sigurdis Haraldsdottir
?/. 1 c.2T>A r.(?) p.Met1? - 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 - - - 0 - Sigurdis Haraldsdottir
?/. 1 c.2T>A r.(?) p.Met1? - 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 - - - 0 - Sigurdis Haraldsdottir
+?/. - c.2T>A r.(?) p.(Met1?) - likely pathogenic g.6048649A>T g.6009018A>T PMS2(NM_000535.5):c.2T>A (p.M1?) - PMS2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 c.3G>A r.0? p.0? - pathogenic g.6048648C>T g.6009017C>T - - PMS2_000388 - - - - Germline - - - 0 - Andreas Laner
?/. 1 c.11C>G r.(?) p.(Ala4Gly) - 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 - 0 - Sigurdis Haraldsdottir
-?/. - c.21G>C r.(?) p.(Ser7=) - likely benign g.6048630C>G g.6008999C>G PMS2(NM_000535.5):c.21G>C (p.S7=) - PMS2_000424 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.23+10G>C r.(=) p.(=) - benign g.6048618C>G g.6008987C>G PMS2(NM_000535.5):c.23+10G>C - PMS2_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.23+10G>C r.(=) p.(=) - likely benign g.6048618C>G g.6008987C>G PMS2(NM_000535.5):c.23+10G>C - PMS2_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.23+10G>C r.(=) p.(=) - likely benign g.6048618C>G g.6008987C>G PMS2(NM_000535.5):c.23+10G>C - PMS2_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.23+10G>C r.(=) p.(=) - likely benign g.6048618C>G g.6008987C>G PMS2(NM_000535.5):c.23+10G>C - PMS2_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. 1i c.23+10G>C r.(=) p.(=) - likely benign g.6048618C>G g.6008987C>G c.23+10G>C - PMS2_000340 - - - - Germline - - - 0 - Thomas Hansen
-?/. - c.23+10G>C r.(=) p.(=) - likely benign g.6048618C>G g.6008987C>G PMS2(NM_000535.5):c.23+10G>C - PMS2_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
-?/. - c.23+10G>C r.(=) p.(=) - likely benign g.6048618C>G - PMS2(NM_000535.5):c.23+10G>C - PMS2_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1i c.23+12T>C r.(=) p.(=) - benign g.6048616A>G g.6008985A>G - - PMS2_000387 - - - - Germline - - - 0 - Andreas Laner
-?/. - c.23+46C>T r.(=) p.(=) - likely benign g.6048582G>A g.6008951G>A PMS2(NM_000535.5):c.23+46C>T - AIMP2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
-/. - c.23+72C>T r.(=) p.(=) - benign g.6048556G>A g.6008925G>A PMS2(NM_000535.5):c.23+72C>T - PMS2_000423 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_NKI
?/. 1i c.23+72C>T r.(?) p.(=) - VUS g.6048556G>A g.6008925G>A - - PMS2_000423 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
?/. 1i c.23+72C>T r.(?) p.(=) - VUS g.6048556G>A g.6008925G>A - - PMS2_000423 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
?/. 1i c.23+72C>T r.(?) p.(=) - VUS g.6048556G>A g.6008925G>A - - PMS2_000423 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
?/. 1i c.23+72C>T r.(?) p.(=) - VUS g.6048556G>A g.6008925G>A - - PMS2_000423 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
?/. 1i c.23+72C>T r.(?) p.(=) - VUS g.6048556G>A g.6008925G>A - - PMS2_000423 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
?/. 1i c.23+72C>T r.(?) p.(=) - VUS g.6048556G>A g.6008925G>A - - PMS2_000423 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
?/. 1i c.23+72C>T r.(?) p.(=) - VUS g.6048556G>A g.6008925G>A - - PMS2_000423 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
?/. 1i c.23+72C>T r.(?) p.(=) - VUS g.6048556G>A g.6008925G>A - - PMS2_000423 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
?/. 1i c.23+72C>T r.(?) p.(=) - VUS g.6048556G>A g.6008925G>A - - PMS2_000423 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
?/. 1i c.23+72C>T r.(?) p.(=) - VUS g.6048556G>A g.6008925G>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 - Mev Dominguez Valentin
-/. - c.23+72C>T r.(?) p.(=) - benign g.6048556G>A g.6008925G>A - - PMS2_000423 - - - - Germline - - - 0 - Carlos Vaccaro
-/. - c.23+72C>T r.(?) p.(=) - benign g.6048556G>A g.6008925G>A - - PMS2_000423 - - - - Germline - - - 0 - Carlos Vaccaro
+/. 1i_2 c.24-12_107delinsAAAT r.24_163del p.Ser8Argfs*5 - pathogenic g.6045579_6045674delinsATTT g.6005948_6006043delinsATTT - - PMS2_000205 96bp deletion across intron1-exon2 border PubMed: van der Klift 2010 - - Germline - - - 0 - Carli Tops
+/. 1i_2 c.24-12_107delinsAAAT r.24_163del p.Ser8Argfs*5 - pathogenic g.6045579_6045674delinsATTT g.6005948_6006043delinsATTT - - PMS2_000205 96bp deletion across intron1-exon2 border PubMed: van der Klift 2010 - - Germline - - - 0 - Carli Tops
+/. 1i_2 c.24-12_107delinsAAAT r.(?) p.?/(p.Ser8ArgfsX5) - pathogenic g.6045579_6045674delinsATTT g.6005948_6006043delinsATTT c.24-12_107delinsAAAT - PMS2_000205 96bp deletion acros intron1-exon2 border Carli Tops - - Germline - - - 0 - INSiGHT group
+/. 1i_2 c.24-12_107delinsAAAT r.(?) p.?/(p.Ser8ArgfsX5) - pathogenic g.6045579_6045674delinsATTT g.6005948_6006043delinsATTT c.24-12_107delinsAAAT - PMS2_000205 96bp deletion acros intron1-exon2 border Carli Tops - - Germline - - - 0 - INSiGHT group
+/. 1i_2 c.24-12_107delinsAAAT r.(?) p.?/(p.Ser8ArgfsX5) - pathogenic g.6045579_6045674delinsATTT g.6005948_6006043delinsATTT c.24-12_107delinsAAAT - PMS2_000205 - Carli Tops - - Germline - - - 0 - INSiGHT group
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