rs276174867

plus

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

Make rs276174867(AA;AA)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32340575

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs276174867
dbSNP (classic)	rs276174867
ClinGen	rs276174867
ebi	rs276174867
HLI	rs276174867
Exac	rs276174867
Gnomad	rs276174867
Varsome	rs276174867
LitVar	rs276174867
Map	rs276174867
PheGenI	rs276174867
Biobank	rs276174867
1000 genomes	rs276174867
hgdp	rs276174867
ensembl	rs276174867
geneview	rs276174867
scholar	rs276174867
google	rs276174867
pharmgkb	rs276174867
gwascentral	rs276174867
openSNP	rs276174867
23andMe	rs276174867
SNPshot	rs276174867
SNPdbe	rs276174867
MSV3d	rs276174867
GWAS Ctlg	rs276174867

Max Magnitude

6

rs276174867, also known as 6448delCACinsAA, c.6220_6222delCACinsAA and p.His2074Lysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs276174867(AA;AA)
Alt	rs276174867(AA;AA)
Reference	Rs276174867(CAC;CAC)
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.32914712_32914714delCACinsAA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044875.2, RCV000113551.2,