rs786204273

Orientation

plus

Stabilized

plus

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(-;-)

Reference

GRCh38.p2 38.2/146

Chromosome

13

Position

32331011

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs786204273
dbSNP (classic)	rs786204273
ClinGen	rs786204273
ebi	rs786204273
HLI	rs786204273
Exac	rs786204273
Gnomad	rs786204273
Varsome	rs786204273
LitVar	rs786204273
Map	rs786204273
PheGenI	rs786204273
Biobank	rs786204273
1000 genomes	rs786204273
hgdp	rs786204273
ensembl	rs786204273
geneview	rs786204273
scholar	rs786204273
google	rs786204273
pharmgkb	rs786204273
gwascentral	rs786204273
openSNP	rs786204273
23andMe	rs786204273
SNPshot	rs786204273
SNPdbe	rs786204273
MSV3d	rs786204273
GWAS Ctlg	rs786204273

Max Magnitude

6

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,