rs63750875
A SNP in the MSH2 gene on chromosome 2. Its most notable genotype is C;C: Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC1)
- Gene
- MSH2
- Location
- Chr 247,475,171 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CMost notableBadLynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC1)
- C;GBadLynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC1)
- G;GGoodcommon in clinvar
On SNPedia: (C;C), (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other MSH2 SNPs
- rs63750245T;TLynch syndrome; hereditary nonpolyposis colorectal cancer-1Very important
- rs63751449-;-Lynch syndrome; hereditary nonpolyposis colorectal cancer-1Very important
- rs12476364A;GLynch syndrome, pathogenic mutationVery important
- rs28929483C;TLynch syndrome, pathogenic mutationVery important
- rs28929484C;TLynch syndrome, pathogenic mutationVery important
- rs34986638G;TLynch syndrome, pathogenic mutationVery important
- rs63749802G;TLynch syndrome, pathogenic mutationVery important
- rs63749814-;GLynch syndrome, pathogenic mutationVery important
Notes
From SNPedia
Show notes, about 230 words
Also known as c.1906G>C, A636P and Ala636Pro, rs63750875 is a SNP in the MSH2 gene on chromosome 2, associated with Lynch syndrome (HNPCC). The origin of this mutation appears to be in a population of Ashkenazi Jews. This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about. See also OMIM 609309.0012 Characterization of chicken liver dihydrofolate reductase after purification by affinity chromatography and isoelectric focusing. Single-amplicon MSH2 A636P mutation testing in Ashkenazi Jewish patients with colorectal cancer: role in presurgical management. Homozygosity of MSH2 c.1906G-->C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I. Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics. The rate of the predominant Jewish mutations in the BRCA1, BRCA2, MSH2 and MSH6 genes in unselected Jewish endometrial cancer patients. High risk of colorectal and endometrial cancer in Ashkenazi families with the MSH2 A636P founder mutation.
C;C
Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC1). Be aware of the possibility that this is an artefact caused by an orientation ambiguous flip.
Source and license
Adapted from rs63750875 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.