rs80359469

plus

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

Make rs80359469(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32339200

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359469
dbSNP (classic)	rs80359469
ClinGen	rs80359469
ebi	rs80359469
HLI	rs80359469
Exac	rs80359469
Gnomad	rs80359469
Varsome	rs80359469
LitVar	rs80359469
Map	rs80359469
PheGenI	rs80359469
Biobank	rs80359469
1000 genomes	rs80359469
hgdp	rs80359469
ensembl	rs80359469
geneview	rs80359469
scholar	rs80359469
google	rs80359469
pharmgkb	rs80359469
gwascentral	rs80359469
openSNP	rs80359469
23andMe	rs80359469
SNPshot	rs80359469
SNPdbe	rs80359469
MSV3d	rs80359469
GWAS Ctlg	rs80359469

Max Magnitude

6

rs80359469, also known as 5073delCT, c.4845_4846delCT and p.Leu1615_Leu1616LeuLysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359469(-;-)
Alt	rs80359469(-;-)
Reference	Rs80359469(CT;CT)
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.32913337_32913338delCT
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044504.2, RCV000113350.2,