rs80359321

plus

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

Make rs80359321(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32336439

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359321
dbSNP (classic)	rs80359321
ClinGen	rs80359321
ebi	rs80359321
HLI	rs80359321
Exac	rs80359321
Gnomad	rs80359321
Varsome	rs80359321
LitVar	rs80359321
Map	rs80359321
PheGenI	rs80359321
Biobank	rs80359321
1000 genomes	rs80359321
hgdp	rs80359321
ensembl	rs80359321
geneview	rs80359321
scholar	rs80359321
google	rs80359321
pharmgkb	rs80359321
gwascentral	rs80359321
openSNP	rs80359321
23andMe	rs80359321
SNPshot	rs80359321
SNPdbe	rs80359321
MSV3d	rs80359321
GWAS Ctlg	rs80359321

Merged from

Rs886038069

Max Magnitude

6

rs80359321, also known as 2312del5, c.2084_2088delAGGAA and p.Lys695_Glu696?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359321(-;-) rs80359321(GGAAA;GGAAA)
Alt	rs80359321(-;-) rs80359321(GGAAA;GGAAA)
Reference	Rs80359321(AGGAA;AGGAA)
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.32910577_32910581delGGAAA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000043941.2, RCV000241255.2,