rs80357912

minus

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

Make rs80357912(T;T)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43092914

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357912
dbSNP (classic)	rs80357912
ClinGen	rs80357912
ebi	rs80357912
HLI	rs80357912
Exac	rs80357912
Gnomad	rs80357912
Varsome	rs80357912
LitVar	rs80357912
Map	rs80357912
PheGenI	rs80357912
Biobank	rs80357912
1000 genomes	rs80357912
hgdp	rs80357912
ensembl	rs80357912
geneview	rs80357912
scholar	rs80357912
google	rs80357912
pharmgkb	rs80357912
gwascentral	rs80357912
openSNP	rs80357912
23andMe	rs80357912
SNPshot	rs80357912
SNPdbe	rs80357912
MSV3d	rs80357912
GWAS Ctlg	rs80357912

Merged from

Rs397508987

Max Magnitude

6

rs80357912, also known as 2735insT, c.2616_2617insT and p.Phe872_Ser873?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357912(T;T)
Alt	rs80357912(T;T)
Reference	Rs80357912(-;-)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41244932dupA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047903.2, RCV000111905.3,