rs81002798

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 rs81002798(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32370558

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs81002798
dbSNP (classic)	rs81002798
ClinGen	rs81002798
ebi	rs81002798
HLI	rs81002798
Exac	rs81002798
Gnomad	rs81002798
Varsome	rs81002798
LitVar	rs81002798
Map	rs81002798
PheGenI	rs81002798
Biobank	rs81002798
1000 genomes	rs81002798
hgdp	rs81002798
ensembl	rs81002798
geneview	rs81002798
scholar	rs81002798
google	rs81002798
pharmgkb	rs81002798
gwascentral	rs81002798
openSNP	rs81002798
23andMe	rs81002798
SNPshot	rs81002798
SNPdbe	rs81002798
MSV3d	rs81002798
GWAS Ctlg	rs81002798

Max Magnitude

6

rs81002798, also known as c.8487+1G>A, represents a rare mutation in the BRCA2 gene.

The minor/rare allele is considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs81002798(A;A) rs81002798(T;T)
Alt	rs81002798(A;A) rs81002798(T;T)
Reference	Rs81002798(G;G)
Significance	Pathogenic
Disease	Breast-ovarian cancer not specified Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 not specified Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome
Reversed	0
HGVS	NC_000013.10:g.32944695G>A; NC_000013.10:g.32944695G>T
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000077441.5, RCV000122367.1, RCV000131086.3, RCV000212276.2, RCV000220501.3, RCV000031745.3,