rs80357761

minus

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

Make rs80357761(-;-)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43070972

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357761
dbSNP (classic)	rs80357761
ClinGen	rs80357761
ebi	rs80357761
HLI	rs80357761
Exac	rs80357761
Gnomad	rs80357761
Varsome	rs80357761
LitVar	rs80357761
Map	rs80357761
PheGenI	rs80357761
Biobank	rs80357761
1000 genomes	rs80357761
hgdp	rs80357761
ensembl	rs80357761
geneview	rs80357761
scholar	rs80357761
google	rs80357761
pharmgkb	rs80357761
gwascentral	rs80357761
openSNP	rs80357761
23andMe	rs80357761
SNPshot	rs80357761
SNPdbe	rs80357761
MSV3d	rs80357761
GWAS Ctlg	rs80357761

Merged from

Rs397509208

Max Magnitude

6

rs80357761, also known as 5061delA, c.4942_4942delA and p.Lys1648=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357761(-;-)
Alt	rs80357761(-;-)
Reference	Rs80357761(A;A)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer not specified
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 not specified
Reversed	1
HGVS	NC_000017.10:g.41222986delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048705.2, RCV000112431.3, RCV000239002.1,