rs80358547

Orientation

plus

Stabilized

plus

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

Make rs80358547(G;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32316462

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358547
dbSNP (classic)	rs80358547
ClinGen	rs80358547
ebi	rs80358547
HLI	rs80358547
Exac	rs80358547
Gnomad	rs80358547
Varsome	rs80358547
LitVar	rs80358547
Map	rs80358547
PheGenI	rs80358547
Biobank	rs80358547
1000 genomes	rs80358547
hgdp	rs80358547
ensembl	rs80358547
geneview	rs80358547
scholar	rs80358547
google	rs80358547
pharmgkb	rs80358547
gwascentral	rs80358547
openSNP	rs80358547
23andMe	rs80358547
SNPshot	rs80358547
SNPdbe	rs80358547
MSV3d	rs80358547
GWAS Ctlg	rs80358547

Max Magnitude

6

rs80358547 represents either a c.2T>G (p.Met1Arg) or a c.2T>C (p.Met1Thr) mutation in the BRCA2 gene.

Both are considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358547(C;C) rs80358547(G;G)
Alt	rs80358547(C;C) rs80358547(G;G)
Reference	Rs80358547(T;T)
Significance	Pathogenic
Disease	Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32890599T>C; NC_000013.10:g.32890599T>G
CLNSRC	ClinVar Ambry Genetics
CLNACC	RCV000044101.2, RCV000165930.1, RCV000044102.3, RCV000113010.1, RCV000131870.2,