rs80358550

plus

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

Make rs80358550(A;G)

Make rs80358550(G;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32337428

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358550
dbSNP (classic)	rs80358550
ClinGen	rs80358550
ebi	rs80358550
HLI	rs80358550
Exac	rs80358550
Gnomad	rs80358550
Varsome	rs80358550
LitVar	rs80358550
Map	rs80358550
PheGenI	rs80358550
Biobank	rs80358550
1000 genomes	rs80358550
hgdp	rs80358550
ensembl	rs80358550
geneview	rs80358550
scholar	rs80358550
google	rs80358550
pharmgkb	rs80358550
gwascentral	rs80358550
openSNP	rs80358550
23andMe	rs80358550
SNPshot	rs80358550
SNPdbe	rs80358550
MSV3d	rs80358550
GWAS Ctlg	rs80358550

Max Magnitude

6

aka c.3073A>T (p.Lys1025Ter) but note also presence of c.3073A>G (p.Lys1025Glu)

In ClinVar, c.3073A>T is pathogenic for breast cancer by expert consensus; however, c.3073A>G is annotated as either benign or of uncertain significance.

ClinVar
Risk	rs80358550(G;G) rs80358550(T;T)
Alt	rs80358550(G;G) rs80358550(T;T)
Reference	Rs80358550(A;A)
Significance	Other
Disease	not specified Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA2
CLNDBN	not specified Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed	0
HGVS	NC_000013.10:g.32911565A>G; NC_000013.10:g.32911565A>T
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000044112.6, RCV000077290.4, RCV000131460.3, RCV000195367.3, RCV000031399.4,