rs80359512

plus

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

Make rs80359512(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32339765

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359512
dbSNP (classic)	rs80359512
ClinGen	rs80359512
ebi	rs80359512
HLI	rs80359512
Exac	rs80359512
Gnomad	rs80359512
Varsome	rs80359512
LitVar	rs80359512
Map	rs80359512
PheGenI	rs80359512
Biobank	rs80359512
1000 genomes	rs80359512
hgdp	rs80359512
ensembl	rs80359512
geneview	rs80359512
scholar	rs80359512
google	rs80359512
pharmgkb	rs80359512
gwascentral	rs80359512
openSNP	rs80359512
23andMe	rs80359512
SNPshot	rs80359512
SNPdbe	rs80359512
MSV3d	rs80359512
GWAS Ctlg	rs80359512

Max Magnitude

6

rs80359512, also known as 5638delGT, c.5410_5411delGT and p.Val1804Lysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359512(-;-)
Alt	rs80359512(-;-)
Reference	Rs80359512(TG;TG)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000013.10:g.32913902_32913903delGT
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000031544.6, RCV000044655.3, RCV000131109.2, RCV000219181.3,