rs80359154

Orientation

plus

Stabilized

plus

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

Make rs80359154(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32379814

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359154
dbSNP (classic)	rs80359154
ClinGen	rs80359154
ebi	rs80359154
HLI	rs80359154
Exac	rs80359154
Gnomad	rs80359154
Varsome	rs80359154
LitVar	rs80359154
Map	rs80359154
PheGenI	rs80359154
Biobank	rs80359154
1000 genomes	rs80359154
hgdp	rs80359154
ensembl	rs80359154
geneview	rs80359154
scholar	rs80359154
google	rs80359154
pharmgkb	rs80359154
gwascentral	rs80359154
openSNP	rs80359154
23andMe	rs80359154
SNPshot	rs80359154
SNPdbe	rs80359154
MSV3d	rs80359154
GWAS Ctlg	rs80359154

Max Magnitude

6

rs80359154, also known as Y3006X, c.9018C>A and p.Tyr3006Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359154(A;A)
Alt	rs80359154(A;A)
Reference	Rs80359154(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000013.10:g.32953951C>A
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000045689.2, RCV000114031.3, RCV000131053.2,