rs273897659

minus

Geno	Mag	Summary
(-;AA)	6	BRCA1 variant considered pathogenic for breast cancer
(AA;AA)	0	common in clinvar
(AA;G)	6	BRCA1 variant considered pathogenic for breast cancer
(G;AA)	6	BRCA1 variant considered pathogenic for breast cancer

Make rs273897659(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094141

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs273897659
dbSNP (classic)	rs273897659
ClinGen	rs273897659
ebi	rs273897659
HLI	rs273897659
Exac	rs273897659
Gnomad	rs273897659
Varsome	rs273897659
LitVar	rs273897659
Map	rs273897659
PheGenI	rs273897659
Biobank	rs273897659
1000 genomes	rs273897659
hgdp	rs273897659
ensembl	rs273897659
geneview	rs273897659
scholar	rs273897659
google	rs273897659
pharmgkb	rs273897659
gwascentral	rs273897659
openSNP	rs273897659
23andMe	rs273897659
SNPshot	rs273897659
SNPdbe	rs273897659
MSV3d	rs273897659
GWAS Ctlg	rs273897659

Max Magnitude

6

rs273897659, also known as 1508delAAinsG, c.1389_1390delAAinsG and p.Lys463_Thr464LysProfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs273897659(G;G)
Alt	rs273897659(G;G)
Reference	Rs273897659(AA;AA)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41246158_41246159delTTinsC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000030990.5, RCV000213424.1, RCV000462415.1, RCV000487351.1,