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rs165631

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 1 Perhaps slightly lower risk for breast cancer in BRCA1/2 mutation carriers?
Make rs165631(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position19964293
GeneCOMT, MIR4761
is asnp
is mentioned by
dbSNPrs165631
dbSNP (classic)rs165631
ClinGenrs165631
ebirs165631
HLIrs165631
Exacrs165631
Gnomadrs165631
Varsomers165631
LitVarrs165631
Maprs165631
PheGenIrs165631
Biobankrs165631
1000 genomesrs165631
hgdprs165631
ensemblrs165631
geneviewrs165631
scholarrs165631
googlers165631
pharmgkbrs165631
gwascentralrs165631
openSNPrs165631
23andMers165631
23andMe allrs165631
SNPshotrs165631
SNPdbers165631
MSV3drs165631
GWAS Ctlgrs165631
Max Magnitude1

rs165631, also known as p.L203, represents a synonymous variant in the COMT gene; the minor rs165631(T) allele has a population allele frequency of 1% (based on exome sequencing of 60,000 individuals).

Admittedly based on only a handful of cases, a preliminary report hunting for variants that might delay or prevent breast cancer in women carrying either disease-causing BRCA1 or BRCA2 mutations observed that the rs165631(T) allele was present in 5 of 15 women with BRCA1/2 mutations (but not breast cancer), while it was not present in any of 25 women with breast cancer (in a different group of women). The authors believe their study "suggests an intriguing genetic correlation", i.e. that rs165631(T) carriers who harbor BRCA1 or BRCA2 mutations might be at lower risk for breast cancer than non-carriers (of this COMT allele).[PMID 28538113OA-icon.png]