rs80359516

plus

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

Make rs80359516(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32339837

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359516
dbSNP (classic)	rs80359516
ClinGen	rs80359516
ebi	rs80359516
HLI	rs80359516
Exac	rs80359516
Gnomad	rs80359516
Varsome	rs80359516
LitVar	rs80359516
Map	rs80359516
PheGenI	rs80359516
Biobank	rs80359516
1000 genomes	rs80359516
hgdp	rs80359516
ensembl	rs80359516
geneview	rs80359516
scholar	rs80359516
google	rs80359516
pharmgkb	rs80359516
gwascentral	rs80359516
openSNP	rs80359516
23andMe	rs80359516
SNPshot	rs80359516
SNPdbe	rs80359516
MSV3d	rs80359516
GWAS Ctlg	rs80359516

Max Magnitude

6

rs80359516, also known as 5710del5, c.5482_5486delAAATT and p.Lys1828_Leu1829?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359516(-;-)
Alt	rs80359516(-;-)
Reference	Rs80359516(ATTAA;ATTAA)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000013.10:g.32913974_32913978delAAATT
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000034446.1, RCV000044670.2, RCV000083118.5, RCV000162924.1,