rs80359152

Orientation

plus

Stabilized

plus

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

Make rs80359152(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32379800

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359152
dbSNP (classic)	rs80359152
ClinGen	rs80359152
ebi	rs80359152
HLI	rs80359152
Exac	rs80359152
Gnomad	rs80359152
Varsome	rs80359152
LitVar	rs80359152
Map	rs80359152
PheGenI	rs80359152
Biobank	rs80359152
1000 genomes	rs80359152
hgdp	rs80359152
ensembl	rs80359152
geneview	rs80359152
scholar	rs80359152
google	rs80359152
pharmgkb	rs80359152
gwascentral	rs80359152
openSNP	rs80359152
23andMe	rs80359152
SNPshot	rs80359152
SNPdbe	rs80359152
MSV3d	rs80359152
GWAS Ctlg	rs80359152

Max Magnitude

6

aka c.9004G>A (p.Glu3002Lys or E3002K)

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

ClinVar
Risk	rs80359152(A;A)
Alt	rs80359152(A;A)
Reference	Rs80359152(G;G)
Significance	Other
Disease	Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed	0
HGVS	NC_000013.10:g.32953937G>A
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000031784.6, RCV000045685.6, RCV000130642.3, RCV000195385.3,