rs80359464

plus

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

Make rs80359464(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32339063

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359464
dbSNP (classic)	rs80359464
ClinGen	rs80359464
ebi	rs80359464
HLI	rs80359464
Exac	rs80359464
Gnomad	rs80359464
Varsome	rs80359464
LitVar	rs80359464
Map	rs80359464
PheGenI	rs80359464
Biobank	rs80359464
1000 genomes	rs80359464
hgdp	rs80359464
ensembl	rs80359464
geneview	rs80359464
scholar	rs80359464
google	rs80359464
pharmgkb	rs80359464
gwascentral	rs80359464
openSNP	rs80359464
23andMe	rs80359464
SNPshot	rs80359464
SNPdbe	rs80359464
MSV3d	rs80359464
GWAS Ctlg	rs80359464

Merged from

Rs397507339

Max Magnitude

6

rs80359464, also known as 4936delAG, c.4708_4709delAG and p.Arg1570=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359464(-;-)
Alt	rs80359464(-;-)
Reference	Rs80359464(AG;AG)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome
Reversed	0
HGVS	NC_000013.10:g.32913204_32913205delAG
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000031500.8, RCV000044474.2, RCV000164613.2, RCV000213951.1, RCV000257921.2,