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rs786204273

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
(-;AA) 6 BRCA2 variant considered pathogenic for breast cancer
(A;A) 0 common/normal
(AA;AA) 0 common in clinvar
(I;I) 0 common genotype


Make rs786204273(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position32331011
GeneBRCA2
is asnp
is mentioned by
dbSNPrs786204273
dbSNP (classic)rs786204273
ClinGenrs786204273
ebirs786204273
HLIrs786204273
Exacrs786204273
Gnomadrs786204273
Varsomers786204273
LitVarrs786204273
Maprs786204273
PheGenIrs786204273
Biobankrs786204273
1000 genomesrs786204273
hgdprs786204273
ensemblrs786204273
geneviewrs786204273
scholarrs786204273
googlers786204273
pharmgkbrs786204273
gwascentralrs786204273
openSNPrs786204273
23andMers786204273
SNPshotrs786204273
SNPdbers786204273
MSV3drs786204273
GWAS Ctlgrs786204273
Max Magnitude6

aka c.774_775delAA (p.Glu260fs) and also c.775delA (p.Arg259fs); both are considered pathogenic for breast cancer in ClinVar


ClinVar
Risk rs786204273(-;-)
Alt rs786204273(-;-)
Reference Rs786204273(AA;AA)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32905148_32905149delAA
CLNSRC
CLNACC RCV000168541.4, RCV000200084.2,