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rs120074205

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs120074205(-;-)
Make rs120074205(G;G)
ReferenceGRCh38 38.1/142
Chromosome13
Position32326255
GeneBRCA2
is asnp
is mentioned by
dbSNPrs120074205
ebirs120074205
HLIrs120074205
Exacrs120074205
Varsomers120074205
Maprs120074205
PheGenIrs120074205
hapmaprs120074205
1000 genomesrs120074205
hgdprs120074205
ensemblrs120074205
gopubmedrs120074205
geneviewrs120074205
scholarrs120074205
googlers120074205
pharmgkbrs120074205
gwascentralrs120074205
openSNPrs120074205
23andMers120074205
23andMe allrs120074205
SNP Nexus

SNPshotrs120074205
SNPdbers120074205
MSV3drs120074205
GWAS Ctlgrs120074205
Max Magnitude6
rs120074205, also known as 717insG, c.489_490insG and p.Ser163_Leu164?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs120074205(G;G)
Alt rs120074205(G;G)
Reference rs120074205(;)
Significance Pathogenic
Disease Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32900392_32900393insG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113677.1, RCV000219354.1, RCV000227690.1,