rs397507411

Orientation

plus

Stabilized

plus

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

Make rs397507411(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32376732

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs397507411
ClinGen	rs397507411
ebi	rs397507411
HLI	rs397507411
Exac	rs397507411
Varsome	rs397507411
Map	rs397507411
PheGenI	rs397507411
hapmap	rs397507411
1000 genomes	rs397507411
hgdp	rs397507411
ensembl	rs397507411
gopubmed	rs397507411
geneview	rs397507411
scholar	rs397507411
google	rs397507411
pharmgkb	rs397507411
gwascentral	rs397507411
openSNP	rs397507411
23andMe	rs397507411
23andMe all	rs397507411
SNP Nexus
SNPshot	rs397507411
SNPdbe	rs397507411
MSV3d	rs397507411
GWAS Ctlg	rs397507411

Max Magnitude

6

rs397507411, also known as c.8695C>T or p.Gln2899Ter, represents a BRCA2 mutation.

It is considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs397507411(T;T)
Alt	rs397507411(T;T)
Reference	Rs397507411(C;C)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Familial cancer of breast
Reversed	0
HGVS	NC_000013.10:g.32950869C>T
CLNSRC	ClinVar
CLNACC	RCV000031762.6, RCV000045603.2,