rs80358754

Orientation

plus

Stabilized

plus

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

Make rs80358754(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32339641

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358754
dbSNP (classic)	rs80358754
ClinGen	rs80358754
ebi	rs80358754
HLI	rs80358754
Exac	rs80358754
Gnomad	rs80358754
Varsome	rs80358754
LitVar	rs80358754
Map	rs80358754
PheGenI	rs80358754
Biobank	rs80358754
1000 genomes	rs80358754
hgdp	rs80358754
ensembl	rs80358754
geneview	rs80358754
scholar	rs80358754
google	rs80358754
pharmgkb	rs80358754
gwascentral	rs80358754
openSNP	rs80358754
23andMe	rs80358754
SNPshot	rs80358754
SNPdbe	rs80358754
MSV3d	rs80358754
GWAS Ctlg	rs80358754

Max Magnitude

6

rs80358754, also known as Y1762X, c.5286T>A and p.Tyr1762Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358754(A;A)
Alt	rs80358754(A;A)
Reference	Rs80358754(T;T)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32913778T>A
CLNSRC	ClinVar
CLNACC	RCV000044628.2, RCV000113417.3,