rs80359717

plus

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

Make rs80359717(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32371028

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359717
dbSNP (classic)	rs80359717
ClinGen	rs80359717
ebi	rs80359717
HLI	rs80359717
Exac	rs80359717
Gnomad	rs80359717
Varsome	rs80359717
LitVar	rs80359717
Map	rs80359717
PheGenI	rs80359717
Biobank	rs80359717
1000 genomes	rs80359717
hgdp	rs80359717
ensembl	rs80359717
geneview	rs80359717
scholar	rs80359717
google	rs80359717
pharmgkb	rs80359717
gwascentral	rs80359717
openSNP	rs80359717
23andMe	rs80359717
SNPshot	rs80359717
SNPdbe	rs80359717
MSV3d	rs80359717
GWAS Ctlg	rs80359717

Max Magnitude

6

rs80359717, also known as 8788delT, c.8560_8560delT and p.Tyr2854Metfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359717(-;-)
Alt	rs80359717(-;-)
Reference	Rs80359717(T;T)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32945165delT
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000045556.3, RCV000113960.3,