rs80359441

plus

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

Make rs80359441(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32338669

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359441
dbSNP (classic)	rs80359441
ClinGen	rs80359441
ebi	rs80359441
HLI	rs80359441
Exac	rs80359441
Gnomad	rs80359441
Varsome	rs80359441
LitVar	rs80359441
Map	rs80359441
PheGenI	rs80359441
Biobank	rs80359441
1000 genomes	rs80359441
hgdp	rs80359441
ensembl	rs80359441
geneview	rs80359441
scholar	rs80359441
google	rs80359441
pharmgkb	rs80359441
gwascentral	rs80359441
openSNP	rs80359441
23andMe	rs80359441
SNPshot	rs80359441
SNPdbe	rs80359441
MSV3d	rs80359441
GWAS Ctlg	rs80359441

Max Magnitude

6

rs80359441, also known as 4542delC, c.4314_4314delC and p.Val1438=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359441(-;-)
Alt	rs80359441(-;-)
Reference	Rs80359441(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32912806delC
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044390.2, RCV000113291.3,