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rs63750871

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 predisposition for mismatch repair cancer syndrome?
(T;T) 3.5 predisposition for mismatch repair cancer syndrome?
ReferenceGRCh38 38.1/141
Chromosome7
Position6002590
GenePMS2
is asnp
is mentioned by
dbSNPrs63750871
ebirs63750871
HLIrs63750871
Exacrs63750871
Varsomers63750871
Maprs63750871
PheGenIrs63750871
hapmaprs63750871
1000 genomesrs63750871
hgdprs63750871
ensemblrs63750871
gopubmedrs63750871
geneviewrs63750871
scholarrs63750871
googlers63750871
pharmgkbrs63750871
gwascentralrs63750871
openSNPrs63750871
23andMers63750871
23andMe allrs63750871
SNP Nexus

SNPshotrs63750871
SNPdbers63750871
MSV3drs63750871
GWAS Ctlgrs63750871
Max Magnitude3.5

rs63750871 is a SNP in the PMS2 gene on chromosome 7, associated with mismatch repair cancer syndrome.[PMID 7661930]

Subsequent findings [PMID 15077197OA-icon.png] were consistent with autosomal recessive inheritance for the cancers associated with this SNP, however another study suggested the possibility that a heterozygous genotype for this SNP could act in a dominant-negative manner.{PMID|9488480|OA=1}}

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.[PMID 23788249OA-icon.png]

See also OMIM 600259.0001

OMIM600259
Desc
Variant0001
Relatedalso


ClinVar
Risk rs63750871(T;T)
Alt rs63750871(T;T)
Reference rs63750871(C;C)
Significance Pathogenic
Disease Turcot syndrome Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene PMS2
CLNDBN Turcot syndrome Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000007.13:g.6042221G>A
CLNSRC International Society for Gastrointestinal Hereditary Tumours OMIM Allelic Variant
CLNACC RCV000009815.5, RCV000076872.3, RCV000115695.5, RCV000212842.1,