rs80358650

Orientation

plus

Stabilized

plus

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

Make rs80358650(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32316463

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358650
dbSNP (classic)	rs80358650
ClinGen	rs80358650
ebi	rs80358650
HLI	rs80358650
Exac	rs80358650
Gnomad	rs80358650
Varsome	rs80358650
LitVar	rs80358650
Map	rs80358650
PheGenI	rs80358650
Biobank	rs80358650
1000 genomes	rs80358650
hgdp	rs80358650
ensembl	rs80358650
geneview	rs80358650
scholar	rs80358650
google	rs80358650
pharmgkb	rs80358650
gwascentral	rs80358650
openSNP	rs80358650
23andMe	rs80358650
SNPshot	rs80358650
SNPdbe	rs80358650
MSV3d	rs80358650
GWAS Ctlg	rs80358650

Max Magnitude

6

rs80358650, also known as M1I, c.3G>A and p.Met1Ile, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358650(A;A) rs80358650(T;T)
Alt	rs80358650(A;A) rs80358650(T;T)
Reference	Rs80358650(G;G)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000013.10:g.32890600G>A; NC_000013.10:g.32890600G>T
CLNSRC	ClinVar
CLNACC	RCV000044328.3, RCV000083102.4, RCV000162893.1, RCV000031452.4,