rs80359397

plus

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

Make rs80359397(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32338040

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359397
dbSNP (classic)	rs80359397
ClinGen	rs80359397
ebi	rs80359397
HLI	rs80359397
Exac	rs80359397
Gnomad	rs80359397
Varsome	rs80359397
LitVar	rs80359397
Map	rs80359397
PheGenI	rs80359397
Biobank	rs80359397
1000 genomes	rs80359397
hgdp	rs80359397
ensembl	rs80359397
geneview	rs80359397
scholar	rs80359397
google	rs80359397
pharmgkb	rs80359397
gwascentral	rs80359397
openSNP	rs80359397
23andMe	rs80359397
SNPshot	rs80359397
SNPdbe	rs80359397
MSV3d	rs80359397
GWAS Ctlg	rs80359397

Max Magnitude

6

rs80359397, also known as 3913delG, c.3685_3685delG and p.Val1229Phefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359397(-;-)
Alt	rs80359397(-;-)
Reference	Rs80359397(G;G)
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.32912177delG
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044244.2, RCV000113207.2,