rs80359514

plus

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

Make rs80359514(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32339821

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359514
dbSNP (classic)	rs80359514
ClinGen	rs80359514
ebi	rs80359514
HLI	rs80359514
Exac	rs80359514
Gnomad	rs80359514
Varsome	rs80359514
LitVar	rs80359514
Map	rs80359514
PheGenI	rs80359514
Biobank	rs80359514
1000 genomes	rs80359514
hgdp	rs80359514
ensembl	rs80359514
geneview	rs80359514
scholar	rs80359514
google	rs80359514
pharmgkb	rs80359514
gwascentral	rs80359514
openSNP	rs80359514
23andMe	rs80359514
SNPshot	rs80359514
SNPdbe	rs80359514
MSV3d	rs80359514
GWAS Ctlg	rs80359514

Max Magnitude

6

rs80359514, also known as 5694insT, c.5466_5467insT and p.Asn1822_Lys1823?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359514(T;T)
Alt	rs80359514(T;T)
Reference	Rs80359514(-;-)
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.32913958dupT
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044664.2, RCV000113433.2,