rs276174914

plus

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

Make rs276174914(GATACTTCAG;GATACTTCAG)

Reference

GRCh38 38.1/142

Chromosome

13

Position

32332369

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs276174914
dbSNP (classic)	rs276174914
ClinGen	rs276174914
ebi	rs276174914
HLI	rs276174914
Exac	rs276174914
Gnomad	rs276174914
Varsome	rs276174914
LitVar	rs276174914
Map	rs276174914
PheGenI	rs276174914
Biobank	rs276174914
1000 genomes	rs276174914
hgdp	rs276174914
ensembl	rs276174914
geneview	rs276174914
scholar	rs276174914
google	rs276174914
pharmgkb	rs276174914
gwascentral	rs276174914
openSNP	rs276174914
23andMe	rs276174914
SNPshot	rs276174914
SNPdbe	rs276174914
MSV3d	rs276174914
GWAS Ctlg	rs276174914

Max Magnitude

6

rs276174914, also known as 1119del9ins10, c.891_899delinsGATACTTCAG and p.Glu297_Val300?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs276174914(GATACTTCAG;GATACTTCAG)
Alt	rs276174914(GATACTTCAG;GATACTTCAG)
Reference	Rs276174914(AACAGTTGT;AACAGTTGT)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed	0
HGVS	NC_000013.10:g.32906506_32906514delAACAGTTGTinsGATACTTCAG
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000112859.1, RCV000160265.1, RCV000218535.1, RCV000461715.1,