rs80357885

minus

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

Make rs80357885(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093578

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357885
dbSNP (classic)	rs80357885
ClinGen	rs80357885
ebi	rs80357885
HLI	rs80357885
Exac	rs80357885
Gnomad	rs80357885
Varsome	rs80357885
LitVar	rs80357885
Map	rs80357885
PheGenI	rs80357885
Biobank	rs80357885
1000 genomes	rs80357885
hgdp	rs80357885
ensembl	rs80357885
geneview	rs80357885
scholar	rs80357885
google	rs80357885
pharmgkb	rs80357885
gwascentral	rs80357885
openSNP	rs80357885
23andMe	rs80357885
SNPshot	rs80357885
SNPdbe	rs80357885
MSV3d	rs80357885
GWAS Ctlg	rs80357885

Max Magnitude

6

rs80357885, also known as 2071insA, c.1952_1953insA and p.Lys651?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357885(A;A)
Alt	rs80357885(A;A)
Reference	Rs80357885(-;-)
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.41245596dupT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047652.2, RCV000111738.3,