rs80357741

minus

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

Make rs80357741(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092597

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357741
dbSNP (classic)	rs80357741
ClinGen	rs80357741
ebi	rs80357741
HLI	rs80357741
Exac	rs80357741
Gnomad	rs80357741
Varsome	rs80357741
LitVar	rs80357741
Map	rs80357741
PheGenI	rs80357741
Biobank	rs80357741
1000 genomes	rs80357741
hgdp	rs80357741
ensembl	rs80357741
geneview	rs80357741
scholar	rs80357741
google	rs80357741
pharmgkb	rs80357741
gwascentral	rs80357741
openSNP	rs80357741
23andMe	rs80357741
SNPshot	rs80357741
SNPdbe	rs80357741
MSV3d	rs80357741
GWAS Ctlg	rs80357741

Max Magnitude

6

rs80357741, also known as 3053delT, c.2934_2934delT and p.Tyr978=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357741(-;-)
Alt	rs80357741(-;-)
Reference	Rs80357741(T;T)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41244614delA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048018.2, RCV000111969.2, RCV000214786.1,