rs80359431

plus

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

Make rs80359431(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32338492

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359431
dbSNP (classic)	rs80359431
ClinGen	rs80359431
ebi	rs80359431
HLI	rs80359431
Exac	rs80359431
Gnomad	rs80359431
Varsome	rs80359431
LitVar	rs80359431
Map	rs80359431
PheGenI	rs80359431
Biobank	rs80359431
1000 genomes	rs80359431
hgdp	rs80359431
ensembl	rs80359431
geneview	rs80359431
scholar	rs80359431
google	rs80359431
pharmgkb	rs80359431
gwascentral	rs80359431
openSNP	rs80359431
23andMe	rs80359431
SNPshot	rs80359431
SNPdbe	rs80359431
MSV3d	rs80359431
GWAS Ctlg	rs80359431

Max Magnitude

6

rs80359431, also known as 4365del5, c.4137_4141delGATTA and p.Gln1379_Lys1381?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359431(-;-)
Alt	rs80359431(-;-)
Reference	Rs80359431(AGATT;AGATT)
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.32912629_32912633delGATTA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044358.2, RCV000113278.3,