rs193922372
A SNP in the MSH2 gene on chromosome 2. Its most notable genotype is -;CGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTT: Lynch syndrome mutation (reported)
- Gene
- MSH2
- Location
- Chr 247,429,673 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;-Baddouble deletion (mutation); Lynch syndrome? but see warning
- -;CGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTTMost notableBadLynch syndrome mutation (reported)
- ACGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGAT;ACGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGoodcommon in clinvar
On SNPedia: (-;-), (-;CGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTT), (ACGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGAT;ACGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGAT). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other MSH2 SNPs
- rs63750245T;TLynch syndrome; hereditary nonpolyposis colorectal cancer-1Very important
- rs63750875C;CLynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC1)Very 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
Notes
From SNPedia
Notes
rs193922372, also known as c.1077-69_1143del136, represents a rare deletion variant in the MSH2 gene on chromosome 2.
-;-
due to the unusual nature of this deletion mutation (being quite large for an entry in dbSNP), and since double mutations are so rare as to be ~unheard of, be extra cautious in any interpretation of this genotype
-;CGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTT
Listed in ClinVar as likely pathogenic for Lynch syndrome
Source and license
Adapted from rs193922372 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.