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rs63749831

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;AAT) 6 Lynch syndrome, pathogenic mutation
(AAT;AAT) 0 common in clinvar


Make rs63749831(-;-)
ReferenceGRCh38 38.1/141
Chromosome2
Position47475051
GeneMSH2
is asnp
is mentioned by
dbSNPrs63749831
ebirs63749831
HLIrs63749831
Exacrs63749831
Varsomers63749831
Maprs63749831
PheGenIrs63749831
hapmaprs63749831
1000 genomesrs63749831
hgdprs63749831
ensemblrs63749831
gopubmedrs63749831
geneviewrs63749831
scholarrs63749831
googlers63749831
pharmgkbrs63749831
gwascentralrs63749831
openSNPrs63749831
23andMers63749831
23andMe allrs63749831
SNP Nexus

SNPshotrs63749831
SNPdbers63749831
MSV3drs63749831
GWAS Ctlgrs63749831
Max Magnitude6

rs63749831, also known as c.1786_1788delAAT, p.Asn596del and N596del, is a very rare mutation in the MSH2 gene on chromosome 2.

Acting in an autosomal dominant manner, the rs63749831(-) allele is considered pathogenic by multiple sources in ClinVar for Lynch syndrome, a disorder characterized by increased risk for colon cancer and other cancers.

See also OMIM 609309.0005

Although present on the v3 chip under it's real (public) name, it appears that this mutation has been renamed by 23andMe to a private name, i5900861, on their v4 chip.

ClinVar
Risk rs63749831(;)
Alt rs63749831(;)
Reference rs63749831(AAT;AAT)
Significance Pathogenic
Disease Lynch syndrome I Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene MSH2
CLNDBN Lynch syndrome I Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000002.11:g.47702190_47702192delAAT
CLNSRC International Society for Gastrointestinal Hereditary Tumours OMIM Allelic Variant
CLNACC RCV000001827.3, RCV000076285.3, RCV000128908.3, RCV000202293.1,