rs80359343

plus

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

Make rs80359343(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32316486

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359343
ClinGen	rs80359343
ebi	rs80359343
HLI	rs80359343
Exac	rs80359343
Varsome	rs80359343
Map	rs80359343
PheGenI	rs80359343
hapmap	rs80359343
1000 genomes	rs80359343
hgdp	rs80359343
ensembl	rs80359343
gopubmed	rs80359343
geneview	rs80359343
scholar	rs80359343
google	rs80359343
pharmgkb	rs80359343
gwascentral	rs80359343
openSNP	rs80359343
23andMe	rs80359343
23andMe all	rs80359343
SNP Nexus
SNPshot	rs80359343
SNPdbe	rs80359343
MSV3d	rs80359343
GWAS Ctlg	rs80359343

Max Magnitude

6

rs80359343, also known as 254delC, c.26_26delC and p.Pro9Glnfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359343(-;-)
Alt	rs80359343(-;-)
Reference	Rs80359343(C;C)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000013.10:g.32890623delC
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044041.5, RCV000077284.7, RCV000132408.3, RCV000215325.1,