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rs373885654

From SNPedia

Likely Pathogenic Variant
Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5 suspected Hereditary Non-Polyposis Colorectal Cancer (HNPCC)/Lynch syndrome
(T;T) 5 suspected Constitutional Mismatch Repair Deficiency (CMMR-D) syndrome
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position5989799
GenePMS2
is asnp
is mentioned by
dbSNPrs373885654
ebirs373885654
HLIrs373885654
Exacrs373885654
Varsomers373885654
Maprs373885654
PheGenIrs373885654
hapmaprs373885654
1000 genomesrs373885654
hgdprs373885654
ensemblrs373885654
gopubmedrs373885654
geneviewrs373885654
scholarrs373885654
googlers373885654
pharmgkbrs373885654
gwascentralrs373885654
openSNPrs373885654
23andMers373885654
23andMe allrs373885654
SNP Nexus

SNPshotrs373885654
SNPdbers373885654
MSV3drs373885654
GWAS Ctlgrs373885654
Max Magnitude5
ClinVar
Risk rs373885654(T;T)
Alt rs373885654(T;T)
Reference rs373885654(C;C)
Significance Pathogenic
Disease Lynch syndrome not provided
Variation info
Gene PMS2
CLNDBN Lynch syndrome not provided
Reversed 0
HGVS NC_000007.13:g.6029430C>T
CLNSRC
CLNACC RCV000149895.1, RCV000213090.1,



Splice site alteration.

Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native donor splice site; however, direct evidence is unavailable. Alterations that disrupt the canonical splice donor site are typically deleterious in nature [PMID 25741868].