rs80359460

plus

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

Make rs80359460(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32338986

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359460
dbSNP (classic)	rs80359460
ClinGen	rs80359460
ebi	rs80359460
HLI	rs80359460
Exac	rs80359460
Gnomad	rs80359460
Varsome	rs80359460
LitVar	rs80359460
Map	rs80359460
PheGenI	rs80359460
Biobank	rs80359460
1000 genomes	rs80359460
hgdp	rs80359460
ensembl	rs80359460
geneview	rs80359460
scholar	rs80359460
google	rs80359460
pharmgkb	rs80359460
gwascentral	rs80359460
openSNP	rs80359460
23andMe	rs80359460
SNPshot	rs80359460
SNPdbe	rs80359460
MSV3d	rs80359460
GWAS Ctlg	rs80359460

Max Magnitude

6

rs80359460, also known as 4859insA, c.4631_4632insA and p.Asn1544?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359460(A;A)
Alt	rs80359460(A;A)
Reference	Rs80359460(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000013.10:g.32913123dupA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000031493.6, RCV000044456.3, RCV000132322.3, RCV000388617.1,