rs80357555

minus

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

Make rs80357555(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094578

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357555
dbSNP (classic)	rs80357555
ClinGen	rs80357555
ebi	rs80357555
HLI	rs80357555
Exac	rs80357555
Gnomad	rs80357555
Varsome	rs80357555
LitVar	rs80357555
Map	rs80357555
PheGenI	rs80357555
Biobank	rs80357555
1000 genomes	rs80357555
hgdp	rs80357555
ensembl	rs80357555
geneview	rs80357555
scholar	rs80357555
google	rs80357555
pharmgkb	rs80357555
gwascentral	rs80357555
openSNP	rs80357555
23andMe	rs80357555
SNPshot	rs80357555
SNPdbe	rs80357555
MSV3d	rs80357555
GWAS Ctlg	rs80357555

Max Magnitude

6

rs80357555, also known as 1068del5, c.949_953delCAACA and p.Gln317_His318?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357555(-;-)
Alt	rs80357555(-;-)
Reference	Rs80357555(CAACA;CAACA)
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.41246595_41246599delTGTTG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000049200.2, RCV000111515.2,