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rs587779344

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;C) 7 Lynch Syndrome (possible); high colorectal cancer risk
(C;C) 0 common in clinvar


Make rs587779344(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position5997349
GenePMS2
is asnp
is mentioned by
dbSNPrs587779344
dbSNP (old)rs587779344
ClinGenrs587779344
ebirs587779344
HLIrs587779344
Exacrs587779344
Gnomadrs587779344
Varsomers587779344
Maprs587779344
PheGenIrs587779344
Biobankrs587779344
1000 genomesrs587779344
hgdprs587779344
ensemblrs587779344
gopubmedrs587779344
geneviewrs587779344
scholarrs587779344
googlers587779344
pharmgkbrs587779344
gwascentralrs587779344
openSNPrs587779344
23andMers587779344
23andMe allrs587779344
SNP Nexus

SNPshotrs587779344
SNPdbers587779344
MSV3drs587779344
GWAS Ctlgrs587779344
Max Magnitude7

rs587779344, also known as c.780delC or p.Asp261Metfs, represents a very rare mutation in the PMS2 gene on chromosome 7.

The minor (deletion) allele is considered in Clinvar as pathogenic, as an autosomal dominant, for a form of Lynch syndrome, more specifically, colorectal cancer, hereditary nonpolyposis, type 4. This is based on information submitted by the International Society for Gastrointestinal Hereditary Tumours (InSiGHT), located here.


ClinVar
Risk rs587779344(-;-)
Alt rs587779344(-;-)
Reference Rs587779344(C;C)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene PMS2
CLNDBN Lynch syndrome
Reversed 1
HGVS NC_000007.13:g.6036980delG
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076886.2,