rs80359454

plus

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

Make rs80359454(-;-)

Reference

GRCh38 38.1/142

Chromosome

13

Position

32338832

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359454
dbSNP (classic)	rs80359454
ClinGen	rs80359454
ebi	rs80359454
HLI	rs80359454
Exac	rs80359454
Gnomad	rs80359454
Varsome	rs80359454
LitVar	rs80359454
Map	rs80359454
PheGenI	rs80359454
Biobank	rs80359454
1000 genomes	rs80359454
hgdp	rs80359454
ensembl	rs80359454
geneview	rs80359454
scholar	rs80359454
google	rs80359454
pharmgkb	rs80359454
gwascentral	rs80359454
openSNP	rs80359454
23andMe	rs80359454
SNPshot	rs80359454
SNPdbe	rs80359454
MSV3d	rs80359454
GWAS Ctlg	rs80359454

Merged from

Rs80359455

Max Magnitude

6

rs80359454, also known as 4705del4, c.4477_4480delGAAA and p.Glu1493_Ser1494?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359454(-;-) rs80359454(AAAG;AAAG)
Alt	rs80359454(-;-) rs80359454(AAAG;AAAG)
Reference	Rs80359454(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, RCV000077327.9, RCV000131081.2, RCV000195401.3,