Full data view for gene MSH6


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 We encourage submission of relevant unpublished information to assist in the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_000179.2 transcript reference sequence.

3746 entries on 38 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     
?/. - c.1094ˆ1095G>A VUS r.(?) p.(Trp365*) Unknown g.48026216ˆ48026217G>A - p.Trp365X - MSH6_000934 identified in a glioblastoma multiforme tumour sample PubMed: Maxwell 2008 - - Somatic - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/? 1 c.-13022_-1711del VUS r.? p.? Unknown g.47997351_48008662del - - - MSH6_000012 Insight class: 3 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.-13022_-1711del VUS r.? p.? Unknown g.47997351_48008662del - - - MSH6_000012 - PubMed: van der Klift 2005 - - Germline - - - 0 - DNA Southern, PCR - - ? - PubMed: van der Klift, H.2005 - ? - Netherlands - - 0 - - 1 Carli Tops
+/+ 1_2i c.-11863_457+1921del pathogenic r.? p.? Unknown g.47998510_48020183del - - - MSH6_000002 Insight class: 5 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1_2i c.-11863_457+1921del pathogenic r.? p.? Parent #1 g.47998510_48020183del - - - MSH6_000002 21.6 Kb deletion exon 1-2 PubMed: van der Klift 2005 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: van der,Klift H. 2005 - ? - Netherlands - - 0 - - 1 Carli Tops
+/+ 1_2i c.-3097_457+2010del pathogenic r.? p.? Unknown g.48007276_48020272del - - - MSH6_000003 Insight class: 5 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1_2i c.-3097_457+2010del pathogenic r.? p.? Unknown g.48007276_48020272del - - - MSH6_000003 13.0 Kb deletion promoter to exon 2 PubMed: Plaschke 2003 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. 1_2i c.-3097_457+2010del pathogenic r.? p.? Unknown g.48007276_48020272del - - - MSH6_000003 13.0 Kb deletion promoter to exon 2 PubMed: Plaschke 2004 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
-/- 1 c.-557T>G benign r.(=) p.(=) Unknown g.48009816T>G - - - MSH6_000597 Insight class: 1 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.-557T>G VUS r.(=) p.(=) Parent #2 g.48009816T>G - -556G>T (rs3136228) - MSH6_000597 - PubMed: Tulupova 2008 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 1 c.-557T>G VUS r.(=) p.(=) Parent #1 g.48009816T>G - -556G>T (rs3136228) - MSH6_000597 - PubMed: Tulupova 2008 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 1 c.-557T>G VUS r.(=) p.(=) Unknown g.48009816T>G - -556G>T - MSH6_000597 - PubMed: Gazzoli 2003 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 1 c.-557T>G VUS r.(=) p.(=) Unknown g.48009816T>G - -556G>T (rs3136228) - MSH6_000597 - PubMed: Tulupova 2008 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
-/. - c.-448G>A benign r.(=) p.(=) Parent #1 g.48009925G>A g.47782786G>A - - MSH6_000591 found homozygeous; c.-159C>T und c.-448G>A - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/- 1 c.-448G>A benign r.(=) p.(=) Unknown g.48009925G>A - - - MSH6_000591 Insight class: 1 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.-448G>A VUS r.(=) p.(=) Unknown g.48009925G>A - - - MSH6_000591 Functional studies indicate Inactivation of two splice1 sites; Authors describe this as a polymorphism PubMed: Gazzoli 2003 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
-/- 1 c.-210C>T benign r.(=) p.(=) Unknown g.48010163C>T - - - MSH6_000429 Insight class: 1 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.-210C>T VUS r.(=) p.(=) Unknown g.48010163C>T - - - MSH6_000429 Functional studies indicate Inactivation of splice1 site PubMed: Gazzoli 2003 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
-/- 1 c.-159C>T benign r.(=) p.(=) Unknown g.48010214C>T - - - MSH6_000401 Insight class: 1 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.-159C>T VUS r.(=) p.(=) Parent #2 g.48010214C>T - - - MSH6_000401 - PubMed: Mrkonjic 2007 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 1 c.-159C>T VUS r.(=) p.(=) Parent #1 g.48010214C>T - - - MSH6_000401 - PubMed: Mrkonjic 2007 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 1 c.-159C>T VUS r.(=) p.(=) Unknown g.48010214C>T - - - MSH6_000401 - PubMed: Peterlongo 2003 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 1 c.-159C>T VUS r.(=) p.(=) Unknown g.48010214C>T - - - MSH6_000401 - PubMed: Mrkonjic 2007 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. _1_1i c.(?_-152)_(260+1_261-1)del VUS r.? p.? Unknown g.(?_48010221)_(48010633_48018065)del - - - MSH6_000174 Not classified DUPLICATE – to be removed - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. _1_1i c.(?_-152)_(260+1_261-1)del pathogenic r.? p.? Unknown g.(?_48010221)_(48010633_48018065)del - (?_-152)_260+?del/Del exon 1 - MSH6_000174 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
+/+ _1_2i c.(?_-152)_(457+1_458-1)del pathogenic r.? p.? Unknown g.(?_48010221)_(48018263_48023032)del - - - MSH6_000001 Insight class: 5 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. _1_2i c.(?_-152)_(457+1_458-1)del pathogenic r.? p.? Unknown g.(?_48010221)_(48018263_48023032)del - 1-?_475+?del - MSH6_000001 deletion of exon 1-2 PubMed: Kets 2006 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_2i c.(?_-152)_(457+1_458-1)del pathogenic r.? p.? Unknown g.(?_48010221)_(48018263_48023032)del - - - MSH6_000001 - PubMed: Overbeek 2007 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+/. _1_2i c.(?_-152)_(457+1_458-1)del pathogenic r.? p.? Unknown g.(?_48010221)_(48018263_48023032)del - 1-?_457+?del - MSH6_000001 deletion of 21.6 kb around exon 1+2, in cis with c.2008G>A,p.Gly670Arg Carli Tops - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 INSiGHT group
+/. _1_2i c.(?_-152)_(457+1_458-1)del pathogenic r.? p.? Unknown g.(?_48010221)_(48018263_48023032)del - MSH6:(?_-152)_457+?del breakpoint not tested - MSH6_000001 - Daniela Barana - - Germline - - - 0 - DNA SEQ - - CRC - - - M - - - - 0 - - 1 INSiGHT group
+/+ _1_10_ c.(?_-152)_(*93_?)del pathogenic r.? p.? Unknown g.(?_48010221)_(48034092_?)del - - - MSH6_000911 Insight class: 5 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. _1_10_ c.(?_-152)_(*93_?)del pathogenic r.? p.? Unknown g.(?_48010221)_(48034092_?)del - - - MSH6_000911 deletion entire gene PubMed: Nilbert 2008 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+?/. _1_10_ c.(?_-152)_(*93_?)del likely pathogenic r.? p.? Unknown g.(?_48010221)_(48034092_?)del - - - MSH6_000911 - - - - Germline - - - 0 - DNA IHC, MLPA - - cancer, endometrial - - - F - - - - 0 - - 1 Amanda Spurdle
+/. _1_10_ c.(?_-152)_(*93_?)del pathogenic r.? p.? Unknown g.(?_48010221)_(48034092_?)del - del MSH2 ex1_16, delTACSTD1-15,-27, del MSH6 - MSH6_000911 - - - - Germline - - - 0 - DNA MLPA, MAPH - - ? - - child, mental retardation;InSiGHT LOVDv2 ID:10396; ? - Netherlands - - 0 - - 1 Carli Tops
+/. _1_10_ c.(?_-152)_(*93_?)del pathogenic r.? p.? Unknown g.(?_48010221)_(48034092_?)del - (?_-152)_(*93_?)del/Del exon 1-10 - MSH6_000911 - {PMID:Nilbert Fam Cancer. 2009;8(1):75-83.:18566915} - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
?/. 1 c.-118G>A VUS r.(=) p.(=) Unknown g.48010255G>A - - - MSH6_000121 Not classified DUPLICATE – to be removed - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.-118G>A VUS r.(=) p.(=) Unknown g.48010255G>A - -118G>A - MSH6_000121 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
?/. 1 c.-118G>A VUS r.(=) p.(=) Unknown g.48010255G>A - -118G>A - MSH6_000121 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
-?/-? 1 c.-88G>A likely benign r.(=) p.(=) Unknown g.48010285G>A - - - MSH6_000792 Insight class: 2 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.-88G>A VUS r.(=) p.(=) Unknown g.48010285G>A - - - MSH6_000792 - - - - Germline - - - 0 - DNA SEQ - - CRC - - - F - Estonia - - 0 - - 1 Hanno Roomere
?/? 1 c.-18G>T VUS r.(=) p.(=) Unknown g.48010355G>T - - - MSH6_000006 Insight class: 3 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.-18G>T VUS r.(=) p.(=) Unknown g.48010355G>T - - - MSH6_000006 - - - - Germline - - - 0 - DNA SEQ - - ? - - - ? - Netherlands - - 0 - - 1 Carli Tops
?/. 1 c.-18G>T VUS r.(=) p.(=) Unknown g.48010355G>T - - - MSH6_000006 - PubMed: Lamberti 2006 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/? 1 c.-8C>T VUS r.(=) p.(=) Unknown g.48010365C>T - - - MSH6_000770 Insight class: 3 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.-8C>T VUS r.(=) p.(=) Unknown g.48010365C>T - - - MSH6_000770 - - - - Germline - - - 0 - DNA DHPLC, SEQ - - CRC - - - - - Netherlands - - 0 - - 1 Bert Redeker
+/. _1_3i c.(?_-1)_(645+1_646-1)del pathogenic r.? p.0? Unknown g.? - 1?_645+?del - MSH6_000893 Submitter has reported the nomenclature for deletion of MSH2 exon 1 to 3 not MSH6 - - - Germline - - - 0 - DNA MLPA - - cancer, endometrial - - - F - Spain - - 0 - - 1 José Luis Soto
?/. _1_6i c.(?_-1)_(3556+1_3557-1)del VUS r.? p.? Unknown g.(?_48010373)_(48032167_48032756)del - - - MSH6_000084 - DUPLICATE – to be removed - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. _1_6i c.(?_-1)_(3556+1_3557-1)del pathogenic r.? p.? Unknown g.(?_48010373)_(48032167_48032756)del - - - MSH6_000084 Submitted by ICCon – South Australia - - - Germline - - - 0 - DNA SEQ - - ? - - Submitted by ICCON South Australia - - Australia - - 0 - - 1 ICCon
+/. - c.(?_-152)_ (260+1_261-1)del pathogenic r.? p.? Unknown g.(?_48010221)_(48010633_48018065)del - 1-?_ 260 +?del - MSH6_000174 - PubMed: Ziada-Bouchaar 2016 - - Germline - - - 0 - DNA ? - - CRC - PubMed: Ziada-Bouchaar 2016 - F - Algeria Algerian - 0 - - 1 Ziada-Bouchaar Hadia
?/. _1_2i c.(?_1)_(457+1_458-1)del VUS r.? p.? Unknown g.(?_48010373)_(48018263_48023032)del - - - MSH6_000042 - DUPLICATE – to be removed - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. _1_2i c.(?_1)_(457+1_458-1)del pathogenic r.? p.? Unknown g.(?_48010373)_(48018263_48023032)del - - - MSH6_000042 ICCON data, Westmead, NSW - - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 1 c.3G>T likely pathogenic r.? p.? Unknown g.48010375G>T - - - MSH6_000056 Insight class: 4 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.3G>T pathogenic r.? p.? Unknown g.48010375G>T - - - MSH6_000056 Proband also carries the MSH6 VLP p.R1242H in trans with p.M1? and the MSH6 VLB p.N21K in cis with p.M1? - - - Germline - - - 0 - DNA ? - - ?, CRC - - mat great uncle stomach ca at 50, mother colon polyps (carries p.M1? and p.N21K VLB). Proband also carries the MSH6 VLP p.R1242H in trans with p.M1? and the MSH6 VLB p.N21K in cis with p.M1?. M - United States white - 0 - - 1 InSiGHT - John-Paul Plazzer
+/. 1 c.3G>T pathogenic r.? p.? Unknown g.48010375G>T - - - MSH6_000056 Proband also carries the MSH6 VLB p.N21K - - - Germline - - - 0 - DNA ? - - cancer, endometrial - - mother endometrial ca in 40s and CRC at 73 and pancreatic ca at 77, mat aunt CRC at 70, mat uncle prostate at 70, MGM endometrial ca at 70; MGF CRC at 70. F - United States white - 0 - - 1 InSiGHT - John-Paul Plazzer
+/. 1 c.3G>T pathogenic r.? p.? Unknown g.48010375G>T - - - MSH6_000056 - - - - Germline - - - 0 - DNA ? - - ?, cancer, endometrial - - mat aunt contralateral breast ca at 59 and 66, father might have had CRC but this was never formally dx (he just had symptoms), sister endometrial ca at 63 F - United States white - 0 - - 1 InSiGHT - John-Paul Plazzer
+/. 1 c.3G>T pathogenic r.? p.? Unknown g.48010375G>T - - - MSH6_000056 co-occurrence with MSH2 c.408DELT mutation - - - Germline - - - 0 - DNA ? - - cancer, rectal - - Brother- prostate @ 50s, lymphoma @ 50s; Father- renal @ 55, CRC @ 59; Pat aunt- PSU @ 20s; Pat aunt- PSU @ 70s; Pat uncle- PSU @ 70; Pat 1st cousin- breast @ 28; PGF- CRC @ 60s, bladder @ 60s M - United States white - 0 - - 1 InSiGHT - John-Paul Plazzer
+/. 1 c.23_26del pathogenic r.(?) p.Tyr8SerfsTer8 Unknown g.48010395_48010398del - 23_26delACAG - MSH6_000913 WT MaxEntScan score: 7.38; Variant MaxEntScan score: 7.38; Difference in MaxEntScan score between variant and WT (%): 0 PubMed: Rossi 2017 - - Germline - - - 0 - DNA ? - - ? - PubMed: Rossi 2017 A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America - - Brazil - - 0 - - 1 Mev Dominguez Valentin
?/? 1 c.38A>C VUS r.(?) p.(Lys13Thr) Unknown g.48010410A>C - - - MSH6_000033 Insight class: 3 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.38A>C VUS r.(?) p.(Lys13Thr) Unknown g.48010410A>C - K13T - MSH6_000033 0/1104 controls PubMed: Barnetson 2008 - - Germline - - - 0 - DNA ? - - HNPCC - - - ? - - - - 0 - - 1 Michael Woods
?/. 1 c.38A>C VUS r.(?) p.(Lys13Thr) Unknown g.48010410A>C - K13T - MSH6_000033 ClustalW AA not conserved PubMed: Barnetson 2008 - - In silico - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.38A>C VUS r.(?) p.(Lys13Thr) Unknown g.48010410A>C - K13T - MSH6_000033 PolyPhen possibly damaging PubMed: Barnetson 2008 - - In silico - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.38A>C VUS r.(?) p.(Lys13Thr) Unknown g.48010410A>C - K13T - MSH6_000033 SIFT score intolerant PubMed: Barnetson 2008 - - In silico - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.44C>T VUS r.(?) p.Pro15Leu Unknown g.48010416C>T - 44C>T - MSH6_000914 WT MaxEntScan score: 7.38; Variant MaxEntScan score: 7.38; Difference in MaxEntScan score between variant and WT (%): 0 ClinVar, PubMed: Rossi 2017 - - Germline - - - 0 - DNA ? - - ? - ClinVar, PubMed: Rossi 2017 A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America - - Uruguay - - 0 - - 1 Mev Dominguez Valentin
-/. - c.59C>T benign r.(?) p.(Ala20Val) Parent #1 g.48010431C>T g.47783292C>T - - MSH6_000591 - - - - Germline - - - 0 - DNA SEQ - - HNPCC - - - - - Germany - - 0 - - 1 Andreas Laner
-?/. - c.59C>T likely benign r.(?) p.(Ala20Val) Unknown g.48010431C>T - MSH6(NM_000179.2):c.59C>T (p.A20V) - MSH6_000591 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/-? 1 c.59C>T likely benign r.(?) p.(Ala20Val) Unknown g.48010431C>T - - - MSH6_000591 Insight class: 2 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.59C>T VUS r.(?) p.(Ala20Val) Unknown g.48010431C>T - - - MSH6_000591 - PubMed: Charames 2000 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 1 c.59C>T VUS r.(?) p.(Ala20Val) Unknown g.48010431C>T - - - MSH6_000591 - PubMed: Nilbert 2008 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 1 c.59C>T VUS r.(?) p.(Ala20Val) Unknown g.48010431C>T - 59C>T - MSH6_000591 - {PMID:Nilbert Fam Cancer. 2009;8(1):75-83.:18566915} - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
?/. 1 c.59C>T VUS r.(?) p.(Ala20Val) Unknown g.48010431C>T - 59C>T - MSH6_000591 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
?/. 1 c.59C>T VUS r.(?) p.(Ala20Val) Unknown g.48010431C>T - 59C>T - MSH6_000591 MMR activity Drost Hum Mutat 2012 33: 488-494. - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.59C>T likely benign r.(?) p.(Ala20Val) Unknown g.48010431C>T - MSH6(NM_000179.2):c.59C>T (p.A20V) - MSH6_000591 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.62A>G VUS r.(?) p.(Asn21Ser) Unknown g.48010434A>G - - - MSH6_000606 Insight class: 3 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.62A>G VUS r.(?) p.(Asn21Ser) Unknown g.48010434A>G - - - MSH6_000606 - PubMed: Nilbert 2008,PubMed: Okkels 2012 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 1 c.63C>G VUS r.(?) p.(Asn21Lys) Unknown g.48010435C>G - - - MSH6_000058 - DUPLICATE – to be removed - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 1 c.63C>G likely benign r.(?) p.(Asn21Lys) Unknown g.48010435C>G - - - MSH6_000058 Proband also carries the MSH6 VLP p.R1242H in trans with p.M1? and the MSH6 VLB p.N21K in cis with p.M1? - - - Germline - - - 0 - DNA ? - - ?, CRC - - mat great uncle stomach ca at 50, mother colon polyps (carries p.M1? and p.N21K VLB). Proband also carries the MSH6 VLP p.R1242H in trans with p.M1? and the MSH6 VLB p.N21K in cis with p.M1?. M - United States white - 0 - - 1 InSiGHT - John-Paul Plazzer
-?/. 1 c.63C>G likely benign r.(?) p.(Asn21Lys) Unknown g.48010435C>G - - - MSH6_000058 - - - - Germline - - - 0 - DNA ? - - cancer, endometrial - - mother endometrial ca in 40s and CRC at 73 and pancreatic ca at 77, mat aunt CRC at 70, mat uncle prostate at 70, MGM endometrial ca at 70; MGF CRC at 70. F - United States white - 0 - - 1 InSiGHT - John-Paul Plazzer
+/. 1 c.71C>A pathogenic r.(?) p.(Ser24*) Unknown g.48010443C>A - - - MSH6_001168 MSH6 with c.71C>A was found in patient with endometrioid endometrial cancer related Lynch syndrome. - - - Germline - - - 0 - DNA SEQ-NG - - - PKU-pat2 - MSH6 with c.71C>A was found in petient with endometrioid endometrial cancer related Lynch syndrome. F - China Chinese >58y 0 - - 1 Caixia Ren
-/. - c.73G>T benign r.(?) p.(Ala25Ser) Parent #1 g.48010445G>T g.47783306G>T - - MSH6_000615 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-?/. - c.73G>T likely benign r.(?) p.(Ala25Ser) Unknown g.48010445G>T - MSH6(NM_000179.2):c.73G>T (p.A25S) - MSH6_000615 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.73G>T VUS r.(?) p.(Ala25Ser) Unknown g.48010445G>T - MSH6(NM_000179.2):c.73G>T (p.A25S) - MSH6_000615 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.73G>T VUS r.(?) p.(Ala25Ser) Unknown g.48010445G>T - MSH6(NM_000179.2):c.73G>T (p.A25S) - MSH6_000615 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.73G>T VUS r.(?) p.(Ala25Ser) Unknown g.48010445G>T - MSH6(NM_000179.2):c.73G>T (p.A25S) - MSH6_000615 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.73G>T likely benign r.(?) p.(Ala25Ser) Unknown g.48010445G>T - MSH6(NM_000179.2):c.73G>T (p.A25S) - MSH6_000615 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 1 c.73G>T VUS r.(?) p.(Ala25Ser) Unknown g.48010445G>T - - - MSH6_000615 Insight class: 3 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.73G>T VUS r.(?) p.(Ala25Ser) Unknown g.48010445G>T - - - MSH6_000615 - PubMed: Nilbert 2008 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 1 c.73G>T VUS r.(?) p.(Ala25Ser) Unknown g.48010445G>T - - - MSH6_000615 - - - - Germline - - - 0 - DNA SEQ - - CRC - - - - - Netherlands - - 0 - - 1 Ans M.W. van den Ouweland
?/. 1 c.73G>T VUS r.(?) p.(Ala25Ser) Unknown g.48010445G>T - - - MSH6_000615 - - - - Germline - - - 0 - DNA SEQ - - CRC - - - - - Netherlands - - 0 - - 1 Ans M.W. van den Ouweland
?/. 1 c.73G>T VUS r.(?) p.(Ala25Ser) Unknown g.48010445G>T - - - MSH6_000615 - - - - Germline - - - 0 - DNA DHPLC, SEQ - - CRC - - - - - Netherlands - - 0 - - 1 Hans Gille
?/. 1 c.73G>T VUS r.(?) p.(Ala25Ser) Unknown g.48010445G>T - - - MSH6_000615 Carrier frequency in Iceland (%): 0.51; Odds ratio for CRC (95%CI): 1.04 (0.61-1.76) PubMed: Haraldsdottir 2018 - - Germline - 0.51 - 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
?/. 1 c.73G>T VUS r.(?) p.(Ala25Ser) Unknown g.48010445G>T - 73G>T - MSH6_000615 - {PMID:Nilbert Fam Cancer. 2009;8(1):75-83.:18566915} - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
?/. 1 c.73G>T VUS r.(?) p.(Ala25Ser) Unknown g.48010445G>T - 73G>T - MSH6_000615 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
?/. 1 c.73G>T VUS r.(?) p.(Ala25Ser) Unknown g.48010445G>T - 73G>T - MSH6_000615 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
?/. 1 c.73G>T VUS r.(?) p.(Ala25Ser) Unknown g.48010445G>T - 73G>T - MSH6_000615 MMR activity Drost Hum Mutat 2012 33: 488-494. - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.73G>T likely benign r.(?) p.(Ala25Ser) Unknown g.48010445G>T - MSH6(NM_000179.2):c.73G>T (p.A25S) - MSH6_000615 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.94G>T likely benign r.(?) p.(Gly32Cys) Unknown g.48010466G>T - MSH6(NM_000179.2):c.94G>T (p.G32C) - MSH6_001181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.102del pathogenic r.(?) p.(Ala35Profs*46) Unknown g.48010474del - - - MSH6_001182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.103G>C likely benign r.(?) p.(Ala35Pro) Unknown g.48010475G>C - MSH6(NM_000179.2):c.103G>C (p.A35P) - MSH6_001255 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.107C>T ACMG: 2 r.(?) p.(Ala36Val) Unknown g.48010479C>T - - - MSH6_001166 ACMG grading: BS1, BP2, BP4 (co-occurrence with truncating variant MSH6 c.3202C>T (p.Arg1068*) in a patient; with CRC and no signs of CMMR-D) - - rs61756469 Germline ? - - 0 - DNA SEQ-NG-I - - cancer, rectal, cancer, endometrial 111046 - - F ? Finland - - 0 - - 1 Andreas Laner
-?/. - c.107C>T ACMG: 2 r.(?) p.Ala36Val Unknown g.48010479C>T - - - MSH6_001166 ACMG grading: BP2,BP4,BS1; co-occurrence with truncating variant MSH6 c.3202C>T (p.Arg1068*) in patient with CRC and no signs of CMMR-D - - rs61756469 Germline - - - 0 - DNA SEQ-NG - - - - - - F - - - - 0 - - 1 Andreas Laner
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