rs80358516

Orientation

plus

Stabilized

plus

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

Make rs80358516(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32336872

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358516
dbSNP (classic)	rs80358516
ClinGen	rs80358516
ebi	rs80358516
HLI	rs80358516
Exac	rs80358516
Gnomad	rs80358516
Varsome	rs80358516
LitVar	rs80358516
Map	rs80358516
PheGenI	rs80358516
Biobank	rs80358516
1000 genomes	rs80358516
hgdp	rs80358516
ensembl	rs80358516
geneview	rs80358516
scholar	rs80358516
google	rs80358516
pharmgkb	rs80358516
gwascentral	rs80358516
openSNP	rs80358516
23andMe	rs80358516
SNPshot	rs80358516
SNPdbe	rs80358516
MSV3d	rs80358516
GWAS Ctlg	rs80358516

Max Magnitude

6

rs80358516, also known as Y839X, c.2517C>A and p.Tyr839Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358516(A;A)
Alt	rs80358516(A;A)
Reference	Rs80358516(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000013.10:g.32911009C>A
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000044008.2, RCV000113053.3, RCV000131057.2, RCV000223462.2,