rs80358785

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;C)	6	BRCA2 variant considered pathogenic for breast cancer
(C;C)	0	common in complete genomics
(C;G)	6	BRCA2 variant considered pathogenic for breast cancer

Make rs80358785(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32340000

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358785
dbSNP (classic)	rs80358785
ClinGen	rs80358785
ebi	rs80358785
HLI	rs80358785
Exac	rs80358785
Gnomad	rs80358785
Varsome	rs80358785
LitVar	rs80358785
Map	rs80358785
PheGenI	rs80358785
Biobank	rs80358785
1000 genomes	rs80358785
hgdp	rs80358785
ensembl	rs80358785
geneview	rs80358785
scholar	rs80358785
google	rs80358785
pharmgkb	rs80358785
gwascentral	rs80358785
openSNP	rs80358785
23andMe	rs80358785
SNPshot	rs80358785
SNPdbe	rs80358785
MSV3d	rs80358785
GWAS Ctlg	rs80358785

Max Magnitude

6

rs80358785, also known as S1882X, c.5645C>A and p.Ser1882Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

OMIM	600185
Desc
Variant	0031
Related	also

ClinVar
Risk	rs80358785(A;A) rs80358785(G;G)
Alt	rs80358785(A;A) rs80358785(G;G)
Reference	Rs80358785(C;C)
Significance	Other
Disease	Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Neoplasm of breast Wilms tumor 1 Glioma susceptibility 3 Medulloblastoma Familial cancer of breast
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Neoplasm of breast Wilms tumor 1 Glioma susceptibility 3 Medulloblastoma Familial cancer of breast
Reversed	0
HGVS	NC_000013.10:g.32914137C>A; NC_000013.10:g.32914137C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000031565.8, RCV000044705.6, RCV000131114.3, RCV000167830.3, RCV000240722.1, RCV000009937.5, RCV000009938.5, RCV000009939.5, RCV000044706.2, RCV000113452.3,