rs80359447

plus

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

Make rs80359447(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32338778

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359447
dbSNP (classic)	rs80359447
ClinGen	rs80359447
ebi	rs80359447
HLI	rs80359447
Exac	rs80359447
Gnomad	rs80359447
Varsome	rs80359447
LitVar	rs80359447
Map	rs80359447
PheGenI	rs80359447
Biobank	rs80359447
1000 genomes	rs80359447
hgdp	rs80359447
ensembl	rs80359447
geneview	rs80359447
scholar	rs80359447
google	rs80359447
pharmgkb	rs80359447
gwascentral	rs80359447
openSNP	rs80359447
23andMe	rs80359447
SNPshot	rs80359447
SNPdbe	rs80359447
MSV3d	rs80359447
GWAS Ctlg	rs80359447

Max Magnitude

6

rs80359447, also known as 4651delA, c.4423_4423delA and p.Met1475Trpfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359447(-;-)
Alt	rs80359447(-;-)
Reference	Rs80359447(A;A)
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.32912915delA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044412.2, RCV000113302.2,