rs80359778

plus

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

Make rs80359778(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32332472

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359778
dbSNP (classic)	rs80359778
ClinGen	rs80359778
ebi	rs80359778
HLI	rs80359778
Exac	rs80359778
Gnomad	rs80359778
Varsome	rs80359778
LitVar	rs80359778
Map	rs80359778
PheGenI	rs80359778
Biobank	rs80359778
1000 genomes	rs80359778
hgdp	rs80359778
ensembl	rs80359778
geneview	rs80359778
scholar	rs80359778
google	rs80359778
pharmgkb	rs80359778
gwascentral	rs80359778
openSNP	rs80359778
23andMe	rs80359778
SNPshot	rs80359778
SNPdbe	rs80359778
MSV3d	rs80359778
GWAS Ctlg	rs80359778

Max Magnitude

6

rs80359778, also known as 1222delA, c.994_994delA and p.Ile332Phefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359778(-;-)
Alt	rs80359778(-;-)
Reference	Rs80359778(A;A)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer not provided
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2 not provided
Reversed	0
HGVS	NC_000013.10:g.32906609delA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000045923.2, RCV000112872.3, RCV000254766.1,