rs80359475

Orientation

plus

Stabilized

plus

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

Make rs80359475(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32339320

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359475
dbSNP (classic)	rs80359475
ClinGen	rs80359475
ebi	rs80359475
HLI	rs80359475
Exac	rs80359475
Gnomad	rs80359475
Varsome	rs80359475
LitVar	rs80359475
Map	rs80359475
PheGenI	rs80359475
Biobank	rs80359475
1000 genomes	rs80359475
hgdp	rs80359475
ensembl	rs80359475
geneview	rs80359475
scholar	rs80359475
google	rs80359475
pharmgkb	rs80359475
gwascentral	rs80359475
openSNP	rs80359475
23andMe	rs80359475
SNPshot	rs80359475
SNPdbe	rs80359475
MSV3d	rs80359475
GWAS Ctlg	rs80359475

Max Magnitude

6

rs80359475, also known as 5193delC, c.4965_4965delC and p.Tyr1655Terfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359475(-;-)
Alt	rs80359475(-;-)
Reference	Rs80359475(C;C)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32913457delC
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044534.3, RCV000077343.5,