rs80359527

plus

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

Make rs80359527(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32340036

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359527
dbSNP (classic)	rs80359527
ClinGen	rs80359527
ebi	rs80359527
HLI	rs80359527
Exac	rs80359527
Gnomad	rs80359527
Varsome	rs80359527
LitVar	rs80359527
Map	rs80359527
PheGenI	rs80359527
Biobank	rs80359527
1000 genomes	rs80359527
hgdp	rs80359527
ensembl	rs80359527
geneview	rs80359527
scholar	rs80359527
google	rs80359527
pharmgkb	rs80359527
gwascentral	rs80359527
openSNP	rs80359527
23andMe	rs80359527
SNPshot	rs80359527
SNPdbe	rs80359527
MSV3d	rs80359527
GWAS Ctlg	rs80359527

Max Magnitude

6

rs80359527, also known as 5909insA, c.5681_5682insA and p.Tyr1894?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359527(A;A)
Alt	rs80359527(A;A)
Reference	Rs80359527(-;-)
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.32914173dupA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000031569.6, RCV000044718.4, RCV000129296.3, RCV000482761.1,