rs80359375

plus

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

Make rs80359375(-;-)

Reference

GRCh38 38.1/142

Chromosome

13

Position

32337547

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359375
dbSNP (old)	rs80359375
ClinGen	rs80359375
ebi	rs80359375
HLI	rs80359375
Exac	rs80359375
Gnomad	rs80359375
Varsome	rs80359375
Map	rs80359375
PheGenI	rs80359375
Biobank	rs80359375
1000 genomes	rs80359375
hgdp	rs80359375
ensembl	rs80359375
gopubmed	rs80359375
geneview	rs80359375
scholar	rs80359375
google	rs80359375
pharmgkb	rs80359375
gwascentral	rs80359375
openSNP	rs80359375
23andMe	rs80359375
23andMe all	rs80359375
SNP Nexus
SNPshot	rs80359375
SNPdbe	rs80359375
MSV3d	rs80359375
GWAS Ctlg	rs80359375

Merged from

Rs80359376

Max Magnitude

6

rs80359375, also known as 3420del4, c.3192_3195delAATT and p.Ser1064_Ile1065?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359375(-;-) rs80359375(TAAT;TAAT)
Alt	rs80359375(-;-) rs80359375(TAAT;TAAT)
Reference	Rs80359375(AATT;AATT)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome
Reversed	0
HGVS	NC_000013.10:g.32911687_32911690delTAAT
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044143.3, RCV000113145.5, RCV000456127.1,