rs397507333

Orientation

plus

Stabilized

plus

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

Make rs397507333(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32338770

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs397507333
dbSNP (classic)	rs397507333
ClinGen	rs397507333
ebi	rs397507333
HLI	rs397507333
Exac	rs397507333
Gnomad	rs397507333
Varsome	rs397507333
LitVar	rs397507333
Map	rs397507333
PheGenI	rs397507333
Biobank	rs397507333
1000 genomes	rs397507333
hgdp	rs397507333
ensembl	rs397507333
geneview	rs397507333
scholar	rs397507333
google	rs397507333
pharmgkb	rs397507333
gwascentral	rs397507333
openSNP	rs397507333
23andMe	rs397507333
SNPshot	rs397507333
SNPdbe	rs397507333
MSV3d	rs397507333
GWAS Ctlg	rs397507333

Max Magnitude

6

c.4415_4418delAGAA (p.Lys1472Thrfs)

Note: the 23andMe probe (i5009143) corresponding to this genotype is unreliable (prone to false results).

ClinVar
Risk	rs397507333(-;-) Rs397507333(AAGA;AAGA)
Alt	rs397507333(-;-) Rs397507333(AAGA;AAGA)
Reference	Rs397507333(AGAA;AGAA)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome not provided
Reversed	0
HGVS	NC_000013.10:g.32912907_32912910delAGAA
CLNSRC	ClinVar
CLNACC	RCV000031483.6, RCV000044410.4, RCV000213169.1,