Have questions? Visit https://www.reddit.com/r/SNPedia

rs397515635

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common/normal
(-;CAAC) 6 BRCA2 variant considered pathogenic for breast cancer
(-;TTAT) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs397515635(-;TTAG)
Make rs397515635(TTAG;TTAG)
ReferenceGRCh38.p2 38.2/147
Chromosome13
Position32332667
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397515635
dbSNP (classic)rs397515635
ClinGenrs397515635
ebirs397515635
HLIrs397515635
Exacrs397515635
Gnomadrs397515635
Varsomers397515635
LitVarrs397515635
Maprs397515635
PheGenIrs397515635
Biobankrs397515635
1000 genomesrs397515635
hgdprs397515635
ensemblrs397515635
geneviewrs397515635
scholarrs397515635
googlers397515635
pharmgkbrs397515635
gwascentralrs397515635
openSNPrs397515635
23andMers397515635
SNPshotrs397515635
SNPdbers397515635
MSV3drs397515635
GWAS Ctlgrs397515635
Max Magnitude6

aka c.1188_1189insTTAG (p.Gln397fs), c.1189_1190insTTAT (p.Gln397fs) and also c.1189_1190insTTAG (p.Gln397fs), all of which are considered pathogenic for breast cancer in ClinVar

Mentioned as a pathogenic/likely pathogenic mutation associated with cancer predisposition in [PMID 26681312OA-icon.png]