rs80359455

plus

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

Make rs80359455(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32338833

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359455
dbSNP (classic)	rs80359455
ClinGen	rs80359455
ebi	rs80359455
HLI	rs80359455
Exac	rs80359455
Gnomad	rs80359455
Varsome	rs80359455
LitVar	rs80359455
Map	rs80359455
PheGenI	rs80359455
Biobank	rs80359455
1000 genomes	rs80359455
hgdp	rs80359455
ensembl	rs80359455
geneview	rs80359455
scholar	rs80359455
google	rs80359455
pharmgkb	rs80359455
gwascentral	rs80359455
openSNP	rs80359455
23andMe	rs80359455
SNPshot	rs80359455
SNPdbe	rs80359455
MSV3d	rs80359455
GWAS Ctlg	rs80359455

Status

Merged into rs80359454

Max Magnitude

6

rs80359455, also known as 4706delAAAG, c.4478_4481delAAAG and p.Glu1493_Ser1494?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk
Alt
Reference	Rs80359455(GAAA;GAAA)
Significance	Pathogenic
Disease	not provided Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA2
CLNDBN	not provided Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed	0
HGVS	NC_000013.10:g.32912970_32912973delAAAG
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044421.6, RCV000077327.8, RCV000131081.2, RCV000195401.2,