rs80359012

Orientation

plus

Stabilized

plus

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

Make rs80359012(G;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32362585

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359012
dbSNP (classic)	rs80359012
ClinGen	rs80359012
ebi	rs80359012
HLI	rs80359012
Exac	rs80359012
Gnomad	rs80359012
Varsome	rs80359012
LitVar	rs80359012
Map	rs80359012
PheGenI	rs80359012
Biobank	rs80359012
1000 genomes	rs80359012
hgdp	rs80359012
ensembl	rs80359012
geneview	rs80359012
scholar	rs80359012
google	rs80359012
pharmgkb	rs80359012
gwascentral	rs80359012
openSNP	rs80359012
23andMe	rs80359012
SNPshot	rs80359012
SNPdbe	rs80359012
MSV3d	rs80359012
GWAS Ctlg	rs80359012

Max Magnitude

6

c.7868A>G (p.His2623Arg)

Classified as a BRCA2 gene pathogenic mutation for breast cancer based on likelihood cited in ClinVar and in [PMID 29394989]

ClinVar
Risk	rs80359012(G;G)
Alt	rs80359012(G;G)
Reference	Rs80359012(A;A)
Significance	Other
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified
Reversed	0
HGVS	NC_000013.10:g.32936722A>G
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000031705.5, RCV000045333.4, RCV000131271.3, RCV000480661.1,