rs80359013

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	6	BRCA2 variant considered pathogenic for breast cancer
(C;G)	6	BRCA2 variant considered pathogenic for breast cancer
(G;G)	0	common in clinvar

Make rs80359013(C;C)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32362595

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359013
dbSNP (classic)	rs80359013
ClinGen	rs80359013
ebi	rs80359013
HLI	rs80359013
Exac	rs80359013
Gnomad	rs80359013
Varsome	rs80359013
LitVar	rs80359013
Map	rs80359013
PheGenI	rs80359013
Biobank	rs80359013
1000 genomes	rs80359013
hgdp	rs80359013
ensembl	rs80359013
geneview	rs80359013
scholar	rs80359013
google	rs80359013
pharmgkb	rs80359013
gwascentral	rs80359013
openSNP	rs80359013
23andMe	rs80359013
23andMe all	rs80359013
SNPshot	rs80359013
SNPdbe	rs80359013
MSV3d	rs80359013
GWAS Ctlg	rs80359013

Max Magnitude

6

aka c.7878G>C (p.Trp2626Cys) and also c.7878G>A (p.Trp2626Ter), both pathogenic for breast cancer

23andMe name for c.7878G>C: i5009321

ClinVar
Risk	rs80359013(A;A) rs80359013(C;C)
Alt	rs80359013(A;A) rs80359013(C;C)
Reference	Rs80359013(G;G)
Significance	Other
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000013.10:g.32936732G>A; NC_000013.10:g.32936732G>C
CLNSRC	ClinVar
CLNACC	RCV000031706.7, RCV000045335.3, RCV000217125.1, RCV000237084.1, RCV000031707.7, RCV000045336.4, RCV000163025.2, RCV000482471.1,