rs80359885

minus

Geno	Mag	Summary
(-;AGAAAAGTAGTGAATAC)	6	BRCA1 variant considered pathogenic for breast cancer
(-;CAGAAAAGTAGTGAATA)	6	BRCA1 variant considered pathogenic for breast cancer
(AGAAAAGTAGTGAATAC;AGAAAAGTAGTGAATAC)	0	common in clinvar
(CAGAAAAGTAGTGAATA;CAGAAAAGTAGTGAATA)	0	common/normal

Make rs80359885(-;-)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43076584

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80359885
dbSNP (classic)	rs80359885
ClinGen	rs80359885
ebi	rs80359885
HLI	rs80359885
Exac	rs80359885
Gnomad	rs80359885
Varsome	rs80359885
LitVar	rs80359885
Map	rs80359885
PheGenI	rs80359885
Biobank	rs80359885
1000 genomes	rs80359885
hgdp	rs80359885
ensembl	rs80359885
geneview	rs80359885
scholar	rs80359885
google	rs80359885
pharmgkb	rs80359885
gwascentral	rs80359885
openSNP	rs80359885
23andMe	rs80359885
SNPshot	rs80359885
SNPdbe	rs80359885
MSV3d	rs80359885
GWAS Ctlg	rs80359885

Merged from

Rs397509166

Max Magnitude

6

rs80359885, also known as 4491del17, c.4372_4388del and p.Gln1458_Tyr1463?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	Rs80359885(CAGAAAAGTAGTGAATA;CAGAAAAGTAGTGAATA) rs80359885(-;-)
Alt	Rs80359885(CAGAAAAGTAGTGAATA;CAGAAAAGTAGTGAATA) rs80359885(-;-)
Reference	Rs80359885(AGAAAAGTAGTGAATAC;AGAAAAGTAGTGAATAC)
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.41228600_41228616del17
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048541.2, RCV000112329.2,