rs80359187

Orientation

plus

Stabilized

plus

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

Make rs80359187(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32380116

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359187
dbSNP (classic)	rs80359187
ClinGen	rs80359187
ebi	rs80359187
HLI	rs80359187
Exac	rs80359187
Gnomad	rs80359187
Varsome	rs80359187
LitVar	rs80359187
Map	rs80359187
PheGenI	rs80359187
Biobank	rs80359187
1000 genomes	rs80359187
hgdp	rs80359187
ensembl	rs80359187
geneview	rs80359187
scholar	rs80359187
google	rs80359187
pharmgkb	rs80359187
gwascentral	rs80359187
openSNP	rs80359187
23andMe	rs80359187
SNPshot	rs80359187
SNPdbe	rs80359187
MSV3d	rs80359187
GWAS Ctlg	rs80359187

Max Magnitude

6

aka c.9227G>A (p.Gly3076Glu) and also c.9227G>T (p.Gly3076Val)

Both are classified as a BRCA2 gene pathogenic mutations for breast cancer based on likelihood cited in ClinVar and in [PMID 29394989]

ClinVar
Risk	rs80359187(A;A) rs80359187(T;T)
Alt	rs80359187(A;A) rs80359187(T;T)
Reference	Rs80359187(G;G)
Significance	Probable-Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome
Reversed	0
HGVS	NC_000013.10:g.32954253G>A; NC_000013.10:g.32954253G>T
CLNSRC	ClinVar Ambry Genetics
CLNACC	RCV000045751.2, RCV000114069.1, RCV000216816.1, RCV000221088.2, RCV000114070.2, RCV000130070.2, RCV000472340.1,