rs80359316

plus

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

Make rs80359316(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32336284

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359316
dbSNP (classic)	rs80359316
ClinGen	rs80359316
ebi	rs80359316
HLI	rs80359316
Exac	rs80359316
Gnomad	rs80359316
Varsome	rs80359316
LitVar	rs80359316
Map	rs80359316
PheGenI	rs80359316
Biobank	rs80359316
1000 genomes	rs80359316
hgdp	rs80359316
ensembl	rs80359316
geneview	rs80359316
scholar	rs80359316
google	rs80359316
pharmgkb	rs80359316
gwascentral	rs80359316
openSNP	rs80359316
23andMe	rs80359316
SNPshot	rs80359316
SNPdbe	rs80359316
MSV3d	rs80359316
GWAS Ctlg	rs80359316

Max Magnitude

6

rs80359316, also known as 2157delG, c.1929_1929delG and p.Val643=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

23andMe name: i5009207

ClinVar
Risk	rs80359316(-;-)
Alt	rs80359316(-;-)
Reference	Rs80359316(G;G)
Significance	Pathogenic
Disease	Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed	0
HGVS	NC_000013.10:g.32910421delG
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000031350.6, RCV000043926.7, RCV000131475.3, RCV000195352.5,