rs397507692

Orientation

plus

Stabilized

plus

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

Make rs397507692(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32338204

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs397507692
dbSNP (classic)	rs397507692
ClinGen	rs397507692
ebi	rs397507692
HLI	rs397507692
Exac	rs397507692
Gnomad	rs397507692
Varsome	rs397507692
LitVar	rs397507692
Map	rs397507692
PheGenI	rs397507692
Biobank	rs397507692
1000 genomes	rs397507692
hgdp	rs397507692
ensembl	rs397507692
geneview	rs397507692
scholar	rs397507692
google	rs397507692
pharmgkb	rs397507692
gwascentral	rs397507692
openSNP	rs397507692
23andMe	rs397507692
SNPshot	rs397507692
SNPdbe	rs397507692
MSV3d	rs397507692
GWAS Ctlg	rs397507692

Max Magnitude

6

c.3849_3852delAAGT (p.Ser1284Lysfs)

23andMe name: i5009161

ClinVar
Risk	rs397507692(-;-)
Alt	rs397507692(-;-)
Reference	Rs397507692(GTAA;GTAA)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32912341_32912344delAAGT
CLNSRC	ClinVar
CLNACC	RCV000044283.2, RCV000256586.2,