rs80359411

plus

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

Make rs80359411(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32338215

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359411
dbSNP (classic)	rs80359411
ClinGen	rs80359411
ebi	rs80359411
HLI	rs80359411
Exac	rs80359411
Gnomad	rs80359411
Varsome	rs80359411
LitVar	rs80359411
Map	rs80359411
PheGenI	rs80359411
Biobank	rs80359411
1000 genomes	rs80359411
hgdp	rs80359411
ensembl	rs80359411
geneview	rs80359411
scholar	rs80359411
google	rs80359411
pharmgkb	rs80359411
gwascentral	rs80359411
openSNP	rs80359411
23andMe	rs80359411
SNPshot	rs80359411
SNPdbe	rs80359411
MSV3d	rs80359411
GWAS Ctlg	rs80359411

Status

Merged into rs80359406

Max Magnitude

6

rs80359411, also known as 4088delA, c.3860_3860delA and p.Asn1287Ilefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	Rs80359411(G;G) rs80359411(GAAA;GAAA)
Alt	Rs80359411(G;G) rs80359411(GAAA;GAAA)
Reference	Rs80359411(A;A)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided Tumor susceptibility linked to germline BAP1 mutations
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided Tumor susceptibility linked to germline BAP1 mutations
Reversed	0
HGVS	NC_000013.10:g.32912352delA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044288.4, RCV000077316.6, RCV000131539.1, RCV000212232.2, RCV000214509.1,