rs273899699

minus

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

Make rs273899699(T;T)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43092426

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs273899699
dbSNP (classic)	rs273899699
ClinGen	rs273899699
ebi	rs273899699
HLI	rs273899699
Exac	rs273899699
Gnomad	rs273899699
Varsome	rs273899699
LitVar	rs273899699
Map	rs273899699
PheGenI	rs273899699
Biobank	rs273899699
1000 genomes	rs273899699
hgdp	rs273899699
ensembl	rs273899699
geneview	rs273899699
scholar	rs273899699
google	rs273899699
pharmgkb	rs273899699
gwascentral	rs273899699
openSNP	rs273899699
23andMe	rs273899699
SNPshot	rs273899699
SNPdbe	rs273899699
MSV3d	rs273899699
GWAS Ctlg	rs273899699

Merged from

Rs397507209, Rs606231391

Max Magnitude

6

rs273899699, also known as 3223insT, c.3104_3105insT and p.Val1035?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs273899699(T;T)
Alt	rs273899699(T;T)
Reference	Rs273899699(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41244440dupA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031089.6, RCV000048072.2, RCV000130035.2,