Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750875
rs63750875
C 0.760 CausalMutation CLINVAR Among Ashkenazi Jewish HNPCC cases, recurring mutations in the MSH2 (1906G>C; A636P) and MSH6 (c.3984_3987dupGTCA; c.3959_3962delCAAG) genes can be detected. 22219001

2012

dbSNP: rs63750875
rs63750875
C 0.760 CausalMutation CLINVAR The MSH2 A636P mutation is a founder mutation in Ashkenazi Jews that causes Lynch syndrome, with a prevalence of 0.4%-0.7%. 21419771

2011

dbSNP: rs63750875
rs63750875
0.760 GeneticVariation BEFREE The MSH2 A636P mutation is a founder mutation in Ashkenazi Jews that causes Lynch syndrome, with a prevalence of 0.4%-0.7%. 21419771

2011

dbSNP: rs63750875
rs63750875
C 0.760 CausalMutation CLINVAR The rate of the predominant Jewish mutations in the BRCA1, BRCA2, MSH2 and MSH6 genes in unselected Jewish endometrial cancer patients. 20850175

2010

dbSNP: rs63750875
rs63750875
0.760 GeneticVariation BEFREE Both mutations: c.3984_3987dup and c.1906G>C account for 61% of HNPCC Ashkenazi families in this cohort. 19851887

2010

dbSNP: rs63750875
rs63750875
C 0.760 CausalMutation CLINVAR Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics. 19267393

2009

dbSNP: rs63750875
rs63750875
C 0.760 CausalMutation CLINVAR A founder mutation A636P in the MSH2 gene was found to be related to hereditary nonpolyposis colorectal cancer in Ashkenazi Jews. 18674656

2008

dbSNP: rs63750875
rs63750875
0.760 GeneticVariation BEFREE A founder mutation A636P in the MSH2 gene was found to be related to hereditary nonpolyposis colorectal cancer in Ashkenazi Jews. 18674656

2008

dbSNP: rs63750875
rs63750875
C 0.760 CausalMutation CLINVAR Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes. 17594722

2007

dbSNP: rs63750875
rs63750875
0.760 GeneticVariation BEFREE Although rare in the general population, A636P mutations are found at increased frequency in Ashkenazim with a personal or family history of colorectal or other HNPCC-associated cancers. 17414604

2007

dbSNP: rs63750875
rs63750875
C 0.760 CausalMutation CLINVAR Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein. 17101317

2006

dbSNP: rs63750875
rs63750875
C 0.760 CausalMutation CLINVAR In addition, the rate of the I1307K APC missense mutation and the two predominant Jewish mutations in hMSH2, A636P, and 324delCA, associated with hereditary nonpolyposis colon cancer (HNPCC), were determined. 15929773

2005

dbSNP: rs63750875
rs63750875
C 0.760 CausalMutation CLINVAR Family history and molecular features of children, adolescents, and young adults with colorectal carcinoma. 15845562

2005

dbSNP: rs63750875
rs63750875
0.760 GeneticVariation BEFREE In addition, the rate of the I1307K APC missense mutation and the two predominant Jewish mutations in hMSH2, A636P, and 324delCA, associated with hereditary nonpolyposis colon cancer (HNPCC), were determined. 15929773

2005

dbSNP: rs63750875
rs63750875
0.760 GeneticVariation BEFREE Although rare in the general population, the A636P mutation is detected in up to 7% of Ashkenazi Jewish patients with early age-of-onset colorectal cancer, and may account for up to one third of HNPCC in the Ashkenazi Jewish population. 15516845

2004

dbSNP: rs63749993
rs63749993
G 0.730 CausalMutation CLINVAR The hMSH2(M688R) Lynch syndrome mutation may function as a dominant negative. 22739024

2012

dbSNP: rs63749993
rs63749993
G 0.730 CausalMutation CLINVAR Classification of mismatch repair gene missense variants with PON-MMR. 22290698

2012

dbSNP: rs63749993
rs63749993
0.730 GeneticVariation BEFREE The hMSH2(M688R) Lynch syndrome mutation may function as a dominant negative. 22739024

2012

dbSNP: rs63749993
rs63749993
G 0.730 CausalMutation CLINVAR Here we describe a patient from a Lynch syndrome family with a germline mutation c.2063T>G (p.M688R) in the MSH2 gene, who developed an adrenal cortical carcinoma, a tumor not usually associated with LS. 21225464

2011

dbSNP: rs63749993
rs63749993
G 0.730 CausalMutation CLINVAR Integrated analysis of unclassified variants in mismatch repair genes. 21239990

2011

dbSNP: rs63749993
rs63749993
0.730 GeneticVariation BEFREE Here we describe a patient from a Lynch syndrome family with a germline mutation c.2063T>G (p.M688R) in the MSH2 gene, who developed an adrenal cortical carcinoma, a tumor not usually associated with LS. 21225464

2011

dbSNP: rs63749993
rs63749993
G 0.730 CausalMutation CLINVAR We herein describe a nucleotide change, c.2063T>G in exon 13 of the MSH2 gene, present in families that fulfill the Amsterdam criteria for Lynch syndrome and originate from northern Tenerife (Canary Islands-Spain). 16500024

2006

dbSNP: rs63749993
rs63749993
0.730 GeneticVariation BEFREE We herein describe a nucleotide change, c.2063T>G in exon 13 of the MSH2 gene, present in families that fulfill the Amsterdam criteria for Lynch syndrome and originate from northern Tenerife (Canary Islands-Spain). 16500024

2006

dbSNP: rs63749993
rs63749993
G 0.730 CausalMutation CLINVAR Reduction in hMSH2 mRNA levels by premature translation termination: implications for mutation screening in hereditary nonpolyposis colorectal cancer. 10080150

1999

dbSNP: rs63751147
rs63751147
0.710 GeneticVariation BEFREE MSH2 c.1022T>C, p.Leu341Pro is a founder pathogenic variation and a major cause of Lynch syndrome in the North of France. 31433521

2020