rs80359434

plus

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

Make rs80359434(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32338543

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359434
dbSNP (classic)	rs80359434
ClinGen	rs80359434
ebi	rs80359434
HLI	rs80359434
Exac	rs80359434
Gnomad	rs80359434
Varsome	rs80359434
LitVar	rs80359434
Map	rs80359434
PheGenI	rs80359434
Biobank	rs80359434
1000 genomes	rs80359434
hgdp	rs80359434
ensembl	rs80359434
geneview	rs80359434
scholar	rs80359434
google	rs80359434
pharmgkb	rs80359434
gwascentral	rs80359434
openSNP	rs80359434
23andMe	rs80359434
SNPshot	rs80359434
SNPdbe	rs80359434
MSV3d	rs80359434
GWAS Ctlg	rs80359434

Max Magnitude

6

rs80359434, also known as 4416delA, c.4188_4188delA and p.Gln1396=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359434(-;-)
Alt	rs80359434(-;-)
Reference	Rs80359434(A;A)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000013.10:g.32912680delA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044369.2, RCV000077321.5, RCV000132340.2,