rs80359283

plus

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

Make rs80359283(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32332867

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359283
dbSNP (classic)	rs80359283
ClinGen	rs80359283
ebi	rs80359283
HLI	rs80359283
Exac	rs80359283
Gnomad	rs80359283
Varsome	rs80359283
LitVar	rs80359283
Map	rs80359283
PheGenI	rs80359283
Biobank	rs80359283
1000 genomes	rs80359283
hgdp	rs80359283
ensembl	rs80359283
geneview	rs80359283
scholar	rs80359283
google	rs80359283
pharmgkb	rs80359283
gwascentral	rs80359283
openSNP	rs80359283
23andMe	rs80359283
SNPshot	rs80359283
SNPdbe	rs80359283
MSV3d	rs80359283
GWAS Ctlg	rs80359283

Max Magnitude

6

rs80359283, also known as 1617delAG, c.1389_1390delAG and p.Thr463_Val464ThrGlyfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359283(-;-)
Alt	rs80359283(-;-)
Reference	Rs80359283(AG;AG)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000013.10:g.32907004_32907005delAG
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000043794.5, RCV000077255.6, RCV000160277.2, RCV000214525.1,